Flyer

Translational Biomedicine

  • ISSN: 2172-0479
  • Journal h-index: 12
  • Journal CiteScore: 8.06
  • Journal Impact Factor: 1.0
  • Average acceptance to publication time (5-7 days)
  • Average article processing time (30-45 days) Less than 5 volumes 30 days
    8 - 9 volumes 40 days
    10 and more volumes 45 days
20+ Million Readerbase
Indexed In
  • Open J Gate
  • Genamics JournalSeek
  • JournalTOCs
  • ResearchBible
  • The Global Impact Factor (GIF)
  • China National Knowledge Infrastructure (CNKI)
  • CiteFactor
  • Scimago
  • Electronic Journals Library
  • Directory of Research Journal Indexing (DRJI)
  • OCLC- WorldCat
  • Proquest Summons
  • Publons
  • MIAR
  • University Grants Commission
  • Geneva Foundation for Medical Education and Research
  • Google Scholar
  • Secret Search Engine Labs
  • ResearchGate
Share This Page

Review Article - (2015) Volume 6, Issue 3

Diagnosis and Treatment of Prenatal Urogenital Anomalies: Review of Current Literature

Gautam Dagur1, Kelly Warren1, Reese Imhof1, Robert Wasnick2 and Sardar A Khan1,2*

1Department of Physiology and Biophysics, SUNY at Stony Brook, New York 11794, USA

2Department of Urology, SUNY at Stony Brook, New York 11794, USA

*Corresponding Author:
Sardar Ali Khan
Professor of Urology and Physiology
HSC Level 9 Room 040 SUNY at Stony Brook
Stony Brook, NY 11794-8093,USA
Tel: 1-631-987-0132
Fax: 1-631-444-7620
Email: [email protected]

Received Date: September 12, 2015 Accepted Date: October 24, 2015 Published Date: October 26, 2015

Citation: Dagur G, Warren K, Imhof R, et al. Diagnosis and Treatment of Prenatal Urogenital Anomalies: Review of Current Literature. Transl Biomed. 2015, 6:3.

Visit for more related articles at Translational Biomedicine

Abstract

With current advances in antenatal medicine it is feasible to diagnose prenatal anomalies earlier and potentially treat these anomalies before they become a significant postnatal problem. We discuss different methods and signs of urogenital anomalies and emphasize the use of telemedicine to assist patients and healthcare providers in remote healthcare facilities, in real time. We discuss prenatal urogenital anomalies that can be detected by antenatal ultrasound and fetal magnetic resonance imaging. Ultimately, we address the natural history of urogenital anomalies, which need surgical intervention, and emphasize ex-utero intrapartum treatment procedures and other common surgical techniques, which alter the natural history of urogenital anomalies.

Keywords

Prenatal anomalies; Hydronephrosis; Kidney; Ureter; Bladder; Urethra; Oligohydraminos; Genitourinary

Abbreviations

US: Ultrasound; GU: Genitourinary; MRI: Magnetic Resonance Imaging; CAH: Congenital Adrenal Hyperplasia; BRA: Bilateral Renal Agenesis; URA: Unilateral Renal Agenesis; VUR: Vesicoureteral Reflux; ARPKD: Autosomal Recessive Polycystic Kidney Disease; ADPKD: Autosomal Dominant Polycystic Kidney Disease; MDK: Multicystic Dysplastic Kidney; MCKD: Medullary Cystic Kidney Disease; UPJO: Ureteropelvic Junction Obstruction; BD: Bladder Diverticulum; MMIHS: Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; HPGA: Hypothalamic-Pituitary- Gonadal Axis; Posterior Urethral Valves; PST: Penoscrotal Transposition; BFS: Bifid Scrotum; PBS: Prune-Belly Syndrome; CH: Congenital Hydrocele; EXIT Procedure: Ex-utero Intrapartum Treatment procedure

Introduction

Advancements in medicine have made it possible to diagnose and treat antenatal anomalies. Many imaging techniques have provided methods of evaluating pregnancy, in both obstetric and fetal points of view. Detection of urological anomalies was common in the past, however the exact nature was difficult to isolate [1]. For the sake of brevity, we address antenatal anomalies diagnosed by ultrasound and fetal magnetic resonance imaging

Diagnostic Methods

Ultrasound

Ultrasound (US) uses high frequency sound waves that are used to detect objects and measure distances. Implementation of US as a routine prenatal screening was established in the late 1970s. Studies identified that in two percent of all fetuses, lethal anomalies were present. Among the anomalies, genitourinary (GU) abnormalities were the most common [2]. The purpose of US of the GU tract is to confirm and evaluate the progression of prenatal findings. US is used as a first-line method for GU tract imaging because of its combination of excellent anatomical delineation, lack of radiation, high availability, dynamic evaluation capabilities, decreased need for sedation, and low cost [3].

Diagnostic amniocentesis

Amniocentesis is a technique using a transabdominal approach to remove amniotic fluid from the uterine cavity. The fluid is tested to determine fetal health because it contains fetal substances. Commonly the amniotic fluid is used for prenatal genetic studies and fetal lung capacity. However, it is also useful for identifying neural tube defects [4-7].

Oligohydramnios

Oligohydramnios is characterized by three factors: amniotic fluid volume less than 500 milliliters at the third trimester, single deepest pocket of less than two centimeters, and amniotic fluid index of less than five centimeters [8-10]. Oligohydramnios is a good indicator of renal dysfunction and can be identified using US [11-17].

Fetal magnetic resonance imaging

Fetal magnetic resonance imaging (MRI) has been used for identifying prenatal anomalies, beginning in the mid-1990s [3,18,19]. For diagnosing congenital anomalies both US and fetal MRI are used. However, US remains the predominant method for evaluation of disorders in the fetus, because it is relatively inexpensive and has widespread availability for real-time imaging [3,20-22]. Due to some limitations of US, fetal MRI is used. Fetal MRI has a larger field-of-view and is not hindered by soft tissues and bone [18,21,23]. Though MRI can be used to diagnose anomalies in the fetus, it is limited [24,25].

Telemedicine

Telemedicine has improved the face of medicine, by increasing the distance at which health care can be provided. It is being used to diagnose fetal urologic disorders primarily using tele-US and maternal-fetal medicine consultations [26]. This method of diagnosis empowers patients, increases administrative efficiency, and ensures expertise is available in places where it is needed the most [26-29]. Telemedicine is used in hospitals to overcome physician [30] and nursing staff shortage [31]. This also provides improved patient safety by standardizing practice by real-time collaboration [29,32]. This technique is being used in medicine and will assist physicians when diagnosing antenatal anomalies.

Prenatal Anomalies

Adrenal

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) combines a set of autosomal recessive disorders. These disorders are related to a deficiency in the enzyme necessary for the synthesis of cortisol, and may or may not include secondary effects in the deficiency of aldosterone and excess of androgens [33]. CAH is characterized by the degree of cortisol deficiency [34]. The phenotype of CAH depends on the deletion or mutation of a gene corresponding to the enzymatic function. The most common form of CAH is due to 21-hydroxylase deficiency, due to mutations of CYP21A2 [35]. Another form of CAH is defined by the loss of 11-beta hydroxylase, due to a mutation or deletion of CYP11B1 [36]. In the United States, CAH is prevalent in 1 case per 12,000, related to CYP21A2 mutations, the classic form of the disorder [37]. CAH due to CYP11B1 mutations account for 1 in 100,000, 5 to 8% of cases overall [38]. Diagnosis of CAH is dependent on the level of production of cortisol, aldosterone, and/or androgen. Deficiency of 21-hydroxylase can be identified by measuring serum concentration of 17-hydroxyprogesterone and urinary pregnanetriol; high concentrations of these are suggestive of the disease [39,40]. Deficiency of 11-beta hydroxylase can be identified by high concentrations of 11-deoxycortisol and deoxycorticosterone [41]. CAH can also be diagnosed using amniocentesis [42]. Management of CAH can be done using glucocorticoid replacement therapy [43]. A prenatal treatment option for female fetuses diagnosed with CAH, can be done using dexamethasone [42,44]. The last line of treatment for CAH, only utilized in the most serve cases, involves bilateral adrenalectomy [45,46].

Adrenal Cystic Neuroblastoma

Neuroblastoma is the most common intra-abdominal tumor in children [47]. It is derived from the neural crest ectoderm, when cells fail to respond to normal signaling. Incidence of adrenal cystic neuroblastoma is 1 in 10,000 cases [48]. Adrenal cystic neuroblastoma increases the production of catecholamines [49]. These cases can be diagnosed using US [50] or fetal MRI, both of which can clearly identify the disorder [23,51]. To treat and manage neuroblastoma, surgery is the ideal option [52,53].

Adrenal Hemorrhage

Adrenal hemorrhage frequency is increasing in both prenatal and neonatal infants. This anomaly was localized by US. Ruminska et al. reported 13 neonates with adrenal hemorrhage. They were able to identify birth trauma, infection, and perinatal asphyxia as some of the risk factors in majority of the cases that resulted in adrenal hemorrhage. However, this anomaly rarely led to adrenal insufficiency. If the neonate had bilateral adrenal hemorrhage, an extended hormonal diagnosis was necessary. All patient were required to have an US follow-up [54]. Gyurkovits et al. identified vaginal delivery, macrosomia, and fetal acidaemia were the most important risk factors of adrenal hemorrhage. Also, they found adrenal glands on both sides were similarly involved [55].

Renal

Bilateral Renal Agenesis

Bilateral renal agenesis (BRA) is a congenital absence of both kidneys. This is also known as Potter's syndrome, Potter's sequence or Oligohydramnios sequence, coined by pathologist Edith Potter. She was also able to distinguish the sequence of events that leads to BRA [56-59]. Using US, it is possible to identify BRA after 16 weeks of gestation because the amount of amniotic fluid is no longer dependent on transmembrane flow, but rather due to fetal urine production [60]. If a fetus has BRA, you will be able to see a condition of oligohydramnios because the volume of amniotic fluid is less than normal in the amniotic cavity [61]. Genetic aspects of BRA are not fully understood. BRA is estimated to occur in 0.1 per 1000 births [62]. Maternal factors associated with BRA include a body mass index of greater than 30 kg/m2 prior to pregnancy, smoking during the periconceptional period, and binge drinking during the second month of pregnancy [63]. Survival rate of fetuses with BRA is extremely low, as BRA is a lethal congenital anomaly [64]. Recent research has shown success for the in utero intervention for bilateral renal agenesis using serial amnioinfusion [65].

Unilateral Renal Agenesis

Unilateral renal agenesis (URA) is a congenital absence of one kidney. This condition is not fatal, unlike BRA, and patients can have a normal life expectancy. However, urological anomalies often accompany URA and patients should be monitored to decrease the risk of renal failure. Urological anomalies found in patients with URA included ureterovesical junction obstruction, bladder dysfunction, vesicoureteral reflux (VUR), ureteropelvic junction obstruction, ureterovesical and ureteropelvic junction obstruction, duplicated collecting system plus grade IV VUR, ectopic kidney plus grade V VUR, ectopic kidney, and development of chronic renal insufficiency [66]. URA is more common than BRA and the general incidence is 1 in 2000 [67]. Patients with URA have an increased risk of hypertension [68]. US can be used to identify a fetus with URA [69-72].

Polycystic Kidney Disease

Polycystic kidney disease is a disorder that can be found in both adult and pediatric patients. It involves the development of bilateral renal cysts with dysplasia. Polycystic kidney disease is characterized into two forms: autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Both involve the presence of renal cysts. This disease can lead to chronic kidney disease and endstage renal disease, respectively. Patients experiencing ARPKD or ADPKD should be monitored carefully because once they develop end-stage renal disease, they would need to undergo dialysis [73]. For prenatal evaluations, the first line method to identify these disorders should be US. When US findings are suboptimal, fetal MRI serves as a useful tool in prenatal diagnosis [70,71,74].

ARPKD is characterized by cystic dilation of the collecting ducts [75]. It was first recognized in 1902, however the histology was not reported until much later. Osathanondh et al. and Potter et al. classified this disease first [76-80]. In 1994, the ARPKD gene was identified on chromosome six [81]. PKDHD1 is a gene that is expressed on the cilia of the renal and bile ducts. It is believed to be crucial in maintaining normal tubular architecture of the ducts. It is not yet completely understood but this finding strengthens the theory that ARPKD is linked to ciliary dysfunction [82]. ARPKD is reported as one case per 20,000 live births [83]. US of a fetus shows enlarged kidneys, small bladder with absence of urine, renal masses, and oligohydramnios [84,85]. Normal US findings do not exclude ARPKD, as abnormalities may not be seen until late in the second trimester [83,86].

 

ADPKD is the most common inherited renal cystic disease [87]. It is characterized by progressive cystic dilation of both kidneys and can have manifestations in other physiological systems. Dysfunction of PKD1 and PKD2, polycystin 1 and polycystin 2, respectively, are thought to be responsible for ADPKD, primarily by ciliary dysfunction [88]. ADPKD differs from ARPKD in that cysts of ADPKD can develop anywhere along the nephron. ADPKD is more prominent and the reported prevalence is between 1 in 400 and 1 in 1000 [87]. US findings of ADPKD can include enlarged echogenic kidneys in utero [89].

 

Duplex Kidneys

Duplex kidney is a renal system containing a single renal parenchyma and drained by two pyelocaliceal systems [90]. Duplex kidneys occur in 0.8% of the general population [91]. When examining a patient with duplex kidney, the duplex kidney is often more elongated than their non-duplex kidney and may contribute more to total renal function [92]. Renal duplex anomalies can be diagnosed by prenatal US. Antenatal diagnosis and proper postnatal care may prevent urinary tract infections and renal function impairment [93]. Children with duplex kidneys can be prone to urinary tract infections due to vesico-ureteric reflux or obstruction [91].

Horseshoe Kidney

Horseshoe kidney is the most common type of renal fusion anomaly, where two separately functioning kidneys are fused at the midline. Horseshoe kidney is found in 1 in every 400 births. It is more commonly found in males than in females [94]. There are two theories on the formation of horseshoe kidney. Classical teaching of mechanical fusion states that it is formed during organogenesis, and fusion is held by fibrous isthmus. The other theory states that the fusion is due to abnormal migration of parenchymatous isthmus, resulting in a teratogenic event [95,96]. Patients with horseshoe kidney often remain asymptomatic and it is often only discovered during radiological exams. When symptoms are present they include nausea, abdominal discomfort, kidney stones, increased incidence of urinary tract infections, kidney obstruction, or kidney infections associated with vesicoureteral reflux [97,98].

Cross Fused Renal Ectopia

Cross fused renal ectopia is an anomaly wherein the kidneys fuse and are located on the same side of the midline. Cross fused renal ectopia is more likely to occur in males than females. It is more commonly found on the left side than the right. US can be used to detect the anomaly. Patients with cross fused renal ectopia are usually asymptomatic. However, complications of cross fused renal ectopia can include infection (pyelonephritis), obstruction (hydronephrosis due to pelviureteric junction obstruction), urolithiasis, and vesicoureteral reflux [99]. The exact incidence is unknown, due to the majority of patients remaining asymptomatic, however the estimated prevalence is 1 in 2000 [100].

Fused Pelvic Kidney

Fused pelvic kidney, also known as pancake kidney, is a kidney that does not ascend as it normally should during fetal development, and instead it is fixed in the pelvis. Detection is possible using radiological exams - US or MRI [101-104].

Renal Malrotation

Renal malrotation, also known as abnormal renal rotation, is an anatomical variation in the position of the kidneys, particularly the orientation of the renal hilum. Rotational variations are rare. The exact incidence of malrotation is unknown and under reported because many patients have no clinical symptoms [105,106].

Hydronephrosis

Hydronephrosis is a common clinical condition encountered by physicians when visualizing the fetus using US [107-109]. Detection of hydronephrosis is possible as early as the 12th to 14th week of gestation [110]. Hydronephrosis is seen in 1-5% of pregnancies [109], and persists in 30-75% of infants postnatally [111]. It can result from interruption of urine flow, and obstruction can be from anywhere along the urinary tract. Obstruction is the key cause of hydronephrosis and is reported in 5-60% of cases [112]. No surgical treatment is necessary, as the condition generally resolves itself. Postnatal check-ups should be repeated every 3 to 6 months [113]. However, higher grades of hydronephrosis would require surgery to treat [114].

Multicystic Dysplastic Kidney

Multicystic dysplastic kidney (MDK) is the most common antenatally diagnosed cystic renal pathology. It is characterized by the presence of multiple, noncommunicating cysts separated by parenchyma and absent normal pelvocaliceal [115]. Unilateral and bilateral MDK are both possible. MDK is more commonly found in males. Isolated unilateral MDK that is not linked with other anomalies often has a good prognosis, whereas bilateral MDK is linked with a bad prognosis [115]. The incidence of MDK ranges from 1 in 1000 to 4300 live births. It is recommended that MDK be managed conservatively [116]. Long term prognosis is usually good. However, due to reduction in nephron mass, the early prevention of cardiovascular risk and nephrotoxicity is recommended [117].

Medullary Cystic Kidney Disease

Medullary cystic kidney disease (MCKD) is passed down in an autosomal dominant pattern and usually presents with adultonset renal failure [118]. It is also known as autosomal dominant interstitial kidney disease to highlight the inheritance pattern and slowly progressive kidney disease due to interstitial fibrosis. There are several genetic defects that can result in MCKD. MCKD type 1 is a result of MUC1 gene mutations, which causes a buildup of mucin 1 protein in the distal nephron [119]. MCKD type 2 is a result of UMOD gene mutation. A mutant form of uromodulin protein cannot exit the endoplasmic reticulum and this results in abnormal accumulation of protein, which causes tubular cell death and chronic kidney disease [120-122].

Renal Hypoplasia

Renal hypoplasia is when part of the kidney does not develop fully in the womb, therefore it may not function as properly as a normal sized kidney. The exact definition is abnormally small kidneys with normal morphology and a reduction in the number of nephrons. Renal hypoplasia is a common cause of pediatric renal failure. Epidemiologic studies suggest an incidence of 1 in every 400 births [123].

Pyelectasis/Renal Pelvic Dilation

Pyelectasis is characterized as a dilation of the renal pelvis in utero. It can be found utilizing US, and is often detected in the second trimester. Renal pelvis dilatation is a common anomaly detected during routine second trimester scans. Treatment is often not needed for pyelectasis because most cases resolve themselves during pregnancy or in the first year after birth. While most cases of mild pyelectasis will show spontaneous resolution, persistent mild pyelectasis may lead to postnatal morbidity and should be monitored [124]. Pyelectasis can result from many factors, including an obstruction in the kidney or urethral obstruction, or duplex kidney. Fetal pyelectasis can be associated with decreased differential renal function [125]. It is recommended that all fetal renal pyelectasis greater than or equal to 5 mm and detected during second trimester US, should be followed antenatally. In addition fetuses with persistent pyelectasis should be evaluated after birth and followed until resolution of pyelectasis is achieved [126].

Mesoblastic Nephroma

Mesoblastic nephroma is a renal stromal neoplasm. It represents 3-10% of all pediatric renal tumors [127]. It is more commonly found in males than females. It is generally benign and unilateral [128]. Diagnosis can be made using US or fetal MRI, and it manifests along with oligohydramnios [129,130]. The mass can be diagnosed after 18-20 weeks of gestation. Treatment of mesoblastic nephroma has favorable outcomes; a nephrectomy is usually the simplest option [131]. Mesoblastic nephroma can be described as classic, cellular, or mixed. Cellular mesoblastic nephroma is often larger than classic, presents later, and appears more heterogeneous on imaging. Distinct from classic, cellular mesoblastic nephroma can exhibit aggressive behavior such as vascular encasement and metastasis [132].

Ureteral

Ectopic Ureter

Ectopic ureter, also known as ureteral ectopia, is a congenital renal anomaly, which results from abnormal migration of the ureteral bud during its insertion to the bladder. In females, the ureter may insert itself into the lower urinary bladder, urethra, or vagina. In males, it may insert itself into the lower urinary bladder, posterior urethra, seminal vesicle, vas deferens, or the ejaculatory duct [133-135]. It is more common in females than males. In females, the common symptom is dribbling urinary incontinence [136]. Other presenting symptoms can include urinary tract infection, abdominal pain, and renal failure [137].

US or MRI urography may provide assistance to view an ectopic ureter [138]. Treatment options involve surgical methods. Most cases of ectopic ureter can be managed by heminephrectomy, however if adequate function is demonstrated in the upper pole, ureteropyelostomy is recommended [136].

 

Duplication of Ureters

Ureteral duplication is the most common renal abnormality, as it manifests in 1% of the population and is estimated as the cause in 10% of children who are diagnosed with urinary tract infections [139]. Incomplete ureteral duplication has no clinical significance. However, complete ureteral duplication, where two ureters enter the bladder, can result in vesicoureteral reflux (VUR), ectopic ureterocele, or ectopic ureteral insertion [140,141] [142]. This occurs when two separate ureteric buds arise from a single Wolffian duct. US is the first line method to investigate for ureteral duplication. For patients with ureteral duplication with a severely dilated ureter, a commonly used surgical technique is ipsilateral ureteroureterostomy for treatment of reflux and/or obstruction [143].

Congenital Megaureter

Congenital megaureter, or primary megaureter, encompasses the causes of enlarged (abnormally dilated) ureter and may result in obstruction and reflux, or unobstructed and not refluxing [144]. The underlying cause of congenital megaureter is an abnormality of the Wolffian duct and the ureteric buds [145]. The exact prevalence is unknown. Primary megaureter may also be caused by vesicoureteric reflux, obstrucive disease, an increased urinary output from kidneys, or by lack of development of the ureteral muscularity [146]. Refluxing congenital megaureter is caused by short or absent intravesical ureter, or derangement of vesicoureteric junction. Obstructed congenital megaureter is due to an obstruction of the aperistaltic juxtavesical segment, preventing urine transport at acceptable rates. Primary obstructive megaureter is often symptomatic and has high complication rates, including infections, stone formation, and renal failure. Surgical treatment of obstructive megaureter is recommended [147]. Primary obstructive megaureter should be differentiated from nonobstructed, nonrefluxing megaureter, which occurs in 6% to 10% of infants with antenatal hydronephrosis [148]. This sub-class may improve or resolve as demonstrated on serial ultrasound, often beyond four years with higher grade hydronephrosis [149,150]. Hence, initial management of primary nonrefluxing megaureter is conservative [151-153].

Ureteropelvic Junction Obstruction

Ureteropelvic junction obstruction (UPJO) is defined as an obstruction of urine flow from the renal pelvis to the proximal ureter. UPJO is the most frequently observed cause of obstructive nephropathy in children [154]. UPJO is a predominant cause of obstructive hydronephrosis [155]. The incidence of UPJO is estimated at 1 in 1000-1500 [154,156]. Imaging techniques, such as US, have made it easier to detect the anomaly sooner [157]. The exact pathophysiology of UPJO remains unknown but research suggests it is multifactorial [158]. Surgical treatment is the primary method for UPJO. A highly successful technique utilized is pyeloplasty [159]. Robot assisted laparoscopic pyeloplasty has been gaining acceptance among pediatric urologists in treatment of UPJO [160,161]. UPJO is determined by many factors - pressure within the renal pelvis, diameter of UPJ, compliance of renal pelvis, and the activity of the ureter. Increased volume and pressure results in renal pelvis dilation. Over time excessively increased pressure results in hypertrophy of the renal pelvis and hinders its compliance, which in turn results in decreased renal function. Untreated UPJO often induces mild to severe impairment of renal function, including impaired glomerular filtration and tubular exchanges of water and solutes [154].

Ureterocele

Ureterocele is a congenital cystic pouching of the distal ureter into the urinary bladder. It is a challenging urologic anomaly. Characterization of ureterocele is based on the relationship with the renal unit. It can either be orthotopic or ectopic. Incidence is reported as between 1 in 5000 and 1 in 12,000 children, with the incidence of ureterocele at autopsy as high as 1 in 500 [162,163]. Ureterocele is more commonly diagnosed in females [162]. Diagnosis of ureterocele is done by US, but in some cases MRI can clarify diagnosis [164-166]. Ureteroceles form during embryogenesis of the kidney and ureter [162]. To treat ureterocele surgical options include endoscopic ureterocele incision, ipsilateral ureteroureterostomy, and ureterocele moiety heminephrectomy. Research supports the endoscopic puncture method as a safe and effective treatment for symptomatic children with both single-system and duplex-system intravesical ureteroceles [167].

Vesicoureteral Reflux

Vesicoureteral reflux (VUR) is the retrograde flow of urine from the bladder into the upper urinary tract. This disorder has substantial morbidity, both from infection and from reflux nephropathy [168,169]. Normally, the distal ureter passes through a submucosal tunnel, after entering the bladder, and opens into the bladder lumen. However, if the length of the submucosal tunnel or the muscular backing is inadequate, the valve does not function properly and results in reflux. Diagnostic methods involve US and urodynamics [170-172].

Bladder

Bladder Diverticulum

Bladder diverticulum (BD) is a congenital disorder that presents itself as an outpouching from the bladder wall. BD occurs almost exclusively in males and is seen in approximately 1.7% of cases [138,173]. BD is believed to occur due to weakness of the ureterovesical junction or posterior urethral valve causing high intravesical pressure with voiding. Using US and MRI, detection is possible and can help dictate the next plan of action regarding BD. Next plan of action is surgical treatment. Diverticulectomy is a common procedure used once BD is identified using prenatal radiological methods. Due to the potential for development of carcinoma in bladder diverticula, immediate prophylactic diverticular excision is recommended [138,174].

Exstrophy

Bladder exstrophy, also known as ectopia vesicae, is a herniation of the urinary bladder through an anterior abdominal wall defect [175]. Exstrophy is a rare congenital anomaly; occuring at a rate of approximately 1 in 10,000-50,000 [176]. It is more common in males than females [177]. It is caused by a developmental defect of the cloacal membrane, which results in the protrusion of the bladder mucosa, as a mass-like lesion [178]. Prenatal diagnosis is often made through incidental findings during routine US. Treatment for exstrophy involves surgical options including complete primary repair of exstrophy and urinary diversion for exstrophy. MRI is a valuable tool in planning and evaluating the optimal surgical techniques for closure of bladder exstrophy [179].

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) also known as Berdon syndrome, after the physician to first describe it in 1976 [180]. MMIHS is a rare congenital disorder characterized by a largely dilated non-obstructed urinary bladder, microcolon, and decreased or absent intestinal peristalsis. MMIHS leads to neonatal intestinal obstruction. There have been approximately 230 cases reported in the literature [180-183]. It occurs more frequently in female fetuses than in males [181,183]. In many cases in which antenatal US diagnoses a fetus with MMIHS, the pregnancy is terminated, due to its association with a fatal outcome. It is recommended that when fetal megacystis is detected by US, particularly when it is a female fetus and associated with polyhydramnios, MMIHS should be considered [184]. Pathogenesis for MMIHS is not clear. It is thought to have an autosomal recessive inheritance [181,183]. A hypothesis states that an ACTG2 mutation is the cause of MMIHS, resulting from a smooth muscle myopathy. Recent research has indicated de novo mutations in ACTG2 as a cause of fetal megacystis in MMIHS and gonadal mosaicism may be present in certain cases [185]. Surgical options are available; however patients often have a poor outcome and life expectancy is low [181,183].

Patent Urachus

Patent urachus is an opening between the bladder and the belly button/umbilical cord. It is diagnosed using US, often seen as a tubular connection between the bladder and umbilical cord. Patent urachus arises when the allantois fails to breakdown and results in an opening between the bladder and umbilical cord. If the urachal tract maintains a lumen during embryonic development it may lead to patent urachus. Treatment involves a surgical procedure to remove the patent urachus and may also involve surgical repair to the bladder [186-189].

Menkes Syndrome

Menkes syndrome, or Menkes disease, is an X-chromosome linked neurodegenerative disease, leading to impairment of copper transport. First described by Menkes et al. in 1962 [190]. Copper is a crucial metal for the proper functioning of many enzymes. Menkes syndrome reduces the function of ATP7A, which decreases transport of copper [191-193]. Menkes syndrome results in BD and VUR, along with neurological problems [194]. An extremely rare disorder with an incidence estimated as 1 in 100,000 [190,192,195]. Treatment options include injecting copper histidine in utero to avoid neurological symptoms. An early diagnosis and treatment with copper supplementation has been shown to be beneficial [195].

Penile

Chordee

Chordee is commonly associated with hypospadias and it involves the ventral shortening and curvature of the penis. Congenital chordee can also be seen with the meatus in the orthotopic position [196]. Chordee may be an end result of growth disparity between dorsal tissues of the corporal bodies and attenuated ventral urethra. It may also be due to a deficiency of ventral penile skin. In the United States it is the second most common congenital penile anomaly [197,198]. Surgery is the best option using orthoplasty to straighten the penis [199]. Both US and fetal MRI can be used to diagnose chordee in the fetus [200,201].

Epispadias

Epispadias is a rare congenital defect involving the opening of the urethra on the dorsum of the penis. This results when the urethra fails to develop into a full tube. It tends to occur alongside bladder exstrophy. Prevalence of complete male epispadias, characterized by the failed closure of the penopubic dorsal urethra, is found in approximately 1 in 120,000 births [202]. Treating epispadias requires surgery, depending on the characteristics of the penis and whether the penis is curved or straight. Based on the characteristics, a multistaged reconstruction procedure or a single-stage procedure may be used [203].

Hypospadias

Hypospadias is an abnormality of anterior urethral and penile development. The urethral opening is ectopically located at a ventral location of the penis, proximal to the tip of the glans penis, which is splayed open. The urethral opening may be located as far down as the scrotum or perineum. It is a congenital defect, occurring during urethral development, between weeks 8 and 20 of gestation. Baskin et al. proposed a modified theory stating: the urethral folds fuse to form a seam of epithelium, which turns into the mesenchyme, and is canalized by apoptosis or programmed cell resorption [204-209]. Hypospadias occurs when the urethral folds fail to fuse. Genetic predisposition can increase the incidence of hypospadias [210-213]. This is the most common penile anomaly, diagnosed in 68.3% of all cases of congenital penile anomalies [198]. Orthoplasty is the best method of treatment for hypospadias. Both US and fetal MRI, can be used to diagnosis the fetus [200,201,214,215].

Microphallus

Microphallus, or micropenis, is defined by the length of the penis, stretched, 2.5 or more standard deviations below the mean; for an infant age 0 to 5 months, the lower limit is 1.9 cm [216]. Normal male development is controlled by testosterone and dihydrotestosterone. Microphallus can be caused by a defect in the hypothalamic-pituitary-gonadal axis (HPGA), and deficiency in androgen. Adequate penile growth requires normal production of testosterone towards the end of gestation. The fetus has normal levels early on, before 14 weeks of gestation. However, if testosterone levels drop after 14 weeks of gestation, due to an issue in the HPGA, this will result in inadequate penile growth. Microphallus can also occur in fetuses with LH-receptor defects and defects in testosterone biosynthesis. Surgical options such as genitoplasty can be performed to treat patients with microphallus [216,217]. Another option is testosterone therapy. However, only a short course of testosterone therapy is recommended (not more than three months). Additional testosterone is not recommended during childhood as to avoid unwanted virilization and bone maturation [218,219].

Urethral

Urethral Meatal Stenosis

Meatal Stenosis is the abnormal narrowing of the urethral meatus. The opening where the urine passes becomes blocked. This can occur after the newborn is circumcised, and is very rarely seen prenatally. In rare cases it can result in urinary tract obstruction [220-222]. Of males circumcised during the neonatal period, incidence of meatal stenosis can be as high as 20.4% [220]. Moderate to severe cases can be treated by topical ointments and dilation, while severe cases may require surgical intervention [220,223].

Posterior Urethral Valves

Posterior urethral valves (PUV) are the most common congenital obstructive lesions of the urethra, causing bladder obstruction. First described by Young et al. in 1919, PUV is believed to develop 8 weeks into gestation, as the Wolffian duct fuses with the developing cloaca. PUV obstruction during the critical organogenesis period can result in lifelong damage to renal, ureteral, and bladder function [224]. Antenatal US can help identify PUV during early pregnancy if clinical presentations occur. Primary valve ablation is the standard treatment for PUV [225].

Megalourethra

Megalourethra is a rare congenital anomaly involving nonobstructive urethral dilation that affects the anterior urethra. Developmental abnormalities are seen of the corpus spongiosum and corpora cavernosa. It is characterized by two forms, scaphoid and fusiform [226-228]. It is commonly seen associated with prune-belly syndrome (PBS). Scaphoid megalourethra is identified due to the lack of corpus spongiosum. Fusiform megalourethra lack both spongiosum and corpora cavernosa. Fusiform megalourethras are associated with lethal congenital anomalies and commonly present in stillborns. Fusiform megalourethra can be caused by temporary obstruction during early development. Scaphoid megalourethra occurs due to the failed development of corpus spongiosuim [229-231]. US findings can help identify and diagnose the type of megalourethra [232-234].

Vaginal

Vaginal Obstruction

Vaginal obstruction is a blockage of the vaginal opening, preventing outflow. This is an extremely rare defect in neonates and infants. However when present, a missed diagnosis can lead to poor outcomes, such as death from infection. Vaginal obstruction can result from the vaginal canal failing to develop, also known as high transverse septum, or from the vaginal opening being completely covered by the imperforated hymen. Surgical intervention can be used to correct vaginal obstruction. Causes of vaginal obstruction can include low transverse vaginal septum, imperforate hymen, or high transverse vaginal septum. Low vaginal septum can be treated by incision and drainage of hydrometrocolpos, imperforate hymen can be treated by hymenotomy and drainage of hydrometrocolpos, and high vaginal septum can be treated by surgical excision [235]. US and MRI can be used to diagnose antenatal vaginal obstruction [236,237].

Hydrocolpos/Hydrometrocolpos

Hydrocolpos is characterized by an expanding fluid filled distention of the vaginal cavity. If this is associated with distention of the uterine cavity, it is named hydrometrocolpos. It is frequently caused by imperforate hymen, and also, less commonly, transverse vaginal septum. US can be used to diagnosis hydrocolpos. The fluid filled distended vaginal canal may be seen as a mass between the bladder and rectum [236,238-242]. Treatment for hydrocolpos involves a hymenotomy [242].

Testicular and Scrotal

Congenital Hydrocele

Congenital hydrocele (CH) is a collection of fluid within the processus vaginalis, leading to swelling of the inguinal region or scrotum. CH shares similar etiology and pathophysiology as inguinal hernia. During fetal development, the testicle is found in the peritoneal cavity, under the kidney. It descends through the inguinal canal, into the scrotum. Normally the inguinal region and scrotum do not connect. During development if the processus vaginalis fails to close, due to the lack of adequate smooth muscle in the patent processus vaginalis, this allows the peritoneal fluid to enter into the scrotum, resulting in CH [243-246]. Hydroceles can be diagnosed prenatally through US [247,248]. Surgical options may be used to treat CH but in many cases may not be necessary [249].

Cryptorchidism

Cryptorchidism is the most common genital anomaly. It is characterized by obscure or absent testis (either one or both testes) from the scrotum. It is also referred to as undescended or maldescended testis, as the testis fails to descend into a scrotal position [250]. Research shows early diagnosis and surgery are important interventions to reduce the negative impact of cryptorchidism [251]. There are many theories as to the onset of cryptorchidism. Ongoing research suggests cryptorchidism could be caused by loss of HOXA10 and HOXA11, suggested by experiments in knockout mice. HOXA10 polymorphisms are seen in human cryptorchid populations [252-254].

Testicular Torsion

Pre-natal (in utero) torsion is most commonly an extravaginal event. Whereas post-natal torsion is almost invariably extravaginal [255]. It is likely that most cases of “vanishing testis” occur secondary to vascular compromise during descent of the testis [256,257]. If torsion were to occur during canalicular descent, one would surgically identify blind-ending spermatic cord remnants and/or nubbin remnants in the scrotum [257]. The “acute” hemiscrotum encountered at birth is almost always the end result of extravaginal torsion during the final phase of descent into the scrotum [258]. Testicular salvage is rare as the vast majority have occurred not within hours, but rather days or weeks before birth [259].

Penoscrotal Transposition

Penoscrotal transposition (PST) is an uncommon congenital abnormality where the scrotum is located towards the cephalad positon with respect to the penis. Most cases are sporadic, but a genetic factor may be involved. PST results from abnormal genital tubercle development during the 6th week of gestation [260-262]. Surgery can be used to correct certain cases of PST [263].

Bifid Scrotum

Bifid scrotum (BFS) is the less severe form of PST, in which two halves of the scrotum are separated by a raphe fused to underlying subcutaneous tissue. BFS is caused by incomplete fusion of the labioscrotal folds. US and fetal MRI can give an early diagnosis for BFS [214,264]. There is evidence that 5-alpha-reductase type 2 deficiency may be involved in BFS. 5-alpha-reductase type 2 deficiency is an autosomal recessive sex-limited condition that prevents the conversion of testosterone to dihydrotestosterone [265-267].

Prune-Belly Syndrome

Prune-belly syndrome (PBS) was first identified by Frolich et al., also known as Eagle-Barret syndrome. It is referred to as an abdominal muscle deficiency syndrome that often is associated with other anomalies [268]. The exact cause of PBS is unknown [138]. Incidence of PBS is rare and it occurs mainly in males [269]. The incidence of PBS for males is reported as 3.76 cases per 100,000 live births [270]. There are many theories for PBS; the prevailing theory is urethral obstruction and mesodermal arrest. It takes place between the 6th and 10th week of gestation. Histologic findings help support this theory [271]. US can diagnose PBS antenatally [272,273]. Children with PBS generally have severe comorbidities and require frequent surgical intervention. Early end-stage renal disease is also common and approximately 15% of children require kidney transplantation [274].

Allantoic Cysts

Allantoic cysts are a type of cyst of the umbilical cord. Allantois forms from the fetal yolk sac, and connects to the urogenital sinus and base of the umbilical cord. Allantois usually regresses on its own but it may persist and present itself as a cystic mass [275-279]. Antenatal US can identify allantoic cysts [280].

Spinal Dysraphism

Rachischisis

Rachischisis is the most severe form of spina bifida, wherein a cleft is found through the entire spine, and is sometimes referred to as complete spina bifida. Spina bifida is a result of a teratogenic process, resulting in abnormal differentiation of the embryonic neural tube and failure of the neural tube to close. Rachischisis is almost always fatal. This can be identified using US or fetal MRI, at 18 weeks of gestation [281-283].

Myelomeningocele

Myelomeningocele is a major congenital neural tube defect and is the most common defect among neonates with spina bifida. The problem resides in the formation of a meningeal cyst, which includes the cord tissue. Failure to close at the caudal end of the neural tube causes myelomeningocele, resulting in an open lesion containing dysplastic spinal cord, nerve roots, meninges, vertebral bodies, and skin. Risk reduction is possible with the administration of folic acid [284,285]. At 18 weeks of gestation, US or fetal MRI can be used to diagnose myelomeningocele [281,286]. Reconstructive urological surgeries play a role in protecting the upper urinary tract and achieving continence in patients with myelomeningocele [287].

Myeloschisis/myelocele

Myeloschisis, or myelocele, is the most severe form of myelomeningocele occurring due to a complete opening of the neural tube and exposure of the ependymal layer. US and fetal MRI are diagnostic tools to help identify myeloschisis prenatally [288,289].

Diastematomyelia

Diastematomyelia is a congenital disorder in which the spinal cord is split, at the level of the upper lumbar vertebra. It is characterized by a sagittal cleft. Diastematomyelia is more common in females. It is caused by an osseous, cartilaginous, or fibrous septum, resulting in a complete or incomplete sagittal division into two hemicords [290,291]. It is classified into two types: type I, duplicated dural sac, or type II, single dural sac. Type I, duplicated dural sac, shares a common midline, separating the two hemicords, and type II, contains both hemicords in a single sac [292]. Antenatal US, focused at the midline between the fetal spine posterior, is a reliable tool [293,294].

Treatments

Surgical options to treat antenatal anomalies should only be used when the situation is life threatening urogenital anomalies or anomalies that threaten proper renal function.

Ex-utero intrapartum treatment (EXIT) Procedure

Ex-utero intrapartum treatment (EXIT) procedure, was developed in order to secure the neonatal airway while the fetus is on placental support during an elective procedure by partial delivery. Airway compression can result from many congenital disorders. EXIT procedure is an extension of the classical caesarean section. The fetus is partially delivered while remaining attached to the umbilical cord to the placenta. Then a multidisciplinary team works together to correct the airway compression. Lastly the fetus is fully delivered. Challenges of the EXIT procedure include preservation of enough blood flow through the umbilical cord, protecting the placenta, and preventing uterine contractions. Maternal morbidity is also of concern with the EXIT procedure [295]. However in many cases, the benefits outweigh the risks [296].

Fetoscopy

Fetoscopy is another surgical procedure that is used for medical interventions. This procedure allows access to the fetus, through a small incision made in the abdomen, and enables access to the amniotic cavity, umbilical cord, and fetal side of the placenta [297,298]. Currently, many anomalies that are amenable to intrauterine surgical treatment are rare [299]. Fetoscopic laser occlusion is also used to treat certain congenital anomalies [300,301].

Myelomeningocele Repair

Myelomeningocele leads to many neurological complications in infant. Brown et al. conducted in utero repair of myelomeningocele using a fetal lamb model. Seven fetal lambs underwent myelomeningocele corrections, using an autologous amniotic membranes patch. This study showed an increased protect of spinal cord, although the overlying skin failed to closed. This is a potential technique but further study is required [302]. Management of Myelomeningocele Study conducted between 1998 and 2003 have shown patients develop no urological complications and decreased the need for ventriculoperitoneal shunting [303].

Fetal Cystoscopy

Fetal cystoscopy is a technique used to treat patients with obstructive uropathy. Sananes et al. collected data of 40 fetal cystoscopies. Twenty-three cases involved in treating PUV. Survival rate of the technique was 61% and resulted in normal renal function in 85% of successful cases. A major complication of this technique is urological fistulas. However, can be avoided if PUV were diagnosed at an earlier gestational age [304].

Vesicoamniotic Shunting

Vesicoamniotic shunting is currently the most common method of treating fetal lower urinary tract obstructions. Involves the placement of a catheter using US guidance. Distal end of the catheter is placed into the bladder and the proximal end into the amniotic cavity to allow drainage [305] Table 1 and Table 2.

  Ultrasound Amniocentesis Fetal MRI
Adrenal Adrenal cystic neuroblastoma [23,306,307] Congenital Adrenal Hyperplasia (CAH) [308-310] Adrenal cystic neuroblastoma[23,311,312] CAH [312]
Renal Bilateral renal agenesis [14,313] Unilateral renal agenesis [69,72] Autosomal recessive polycystic kidney disease [314,315,316] Autosomal dominant polycystic kidney disease [89,317,318] Duplex Kidneys [93,319] Horseshoe kidney [320,321] Cross fused renal ectopia[322] Fused Pelvic kidney [323] Hydronephrosis[324-326] Multicystic dysplastic kidney [313] Renal hypoplasia[16] Pyelectasis/renal pelvic dilation [327,328] MesoblasticNephroma[130,329] Autosomal recessive polycystic kidney disease [330] Autosomal dominant polycystic kidney disease [331] Bilateral renal agenesis [71,332-334] Unilateral renal agenesis [70,71] Polycystic kidney disease [70,71,74] Autosomal recessive polycystic kidney disease [316,335-337] Autosomal dominant polycystic kidney disease [318] Hydronephrosis[326,338,339] Multicystic dysplastic kidney disease [71] MesoblasticNephroma[129,130]
Ureteral Anomalies Duplication of one or both ureters [340,341] Ectopic ureter[341] Primary megaureter[172,342,343] Ureteropelvic junction obstruction [344,345] Ureterocele[164,165,172,340]   Ectopic ureter[346] Ureteropelvic junction obstruction [166] Ureterocele[166,347]
Vesicoureteral Reflux Vesicoureteral Reflux [170-172]    
Bladder Anomalies Bladder diverticulum [348] Exstrophy[349,350] Patent Urachus[351-354] MMIHS [14,171,354] Menkes Syndrome [355,356] Neurogenic bladder [286]
Penile Chordee[201,214] Epispadias[357] Hypospadias [200,201] Microphallus[358]   Chordee[214] Hypospadias [215]
Urethral Anomalies Urethral stenosis [359,360] Posterior urethral valve [172,361] Megalourethra[232-234]   Posterior urethral valve [166]
Vaginal Anomalies Vaginal obstruction [237] Hydrocolpos/hydrometrocolpos [238,239,241]   Hydrocolpos/hydrometrocolpos[236]
Testicular and Scrotal Anomalies Congenital hydrocele [247,248] Cryptorchidism [362,363] Testicular torsion [247,364] Penoscrotal transposition [214,365] Bifid scrotum [214,264]   Cryptorchidism [366] Penoscrotal transposition [214] Bifid scrotum [214]
Prune-belly syndrome Prune-belly syndrome[171,272,273]    
Allantois Allantoic cysts[280,353]    
Spinal Dysraphism Rachischisis[281] Myelomeningocele[281] Myeloschisis (myelocele) [289] Diastematomyelia[293,294]   Rachischisis[281] Myelomeningocele[281,286] Myeloschisis (myelocele) [288] Diastematomyelia[293]

Table 1: Methods of Prenatal Anomaly Diagnosis.

Trimester of Prenatal Anomaly Identification
  1st Trimester (1-12 weeks) 2nd Trimester (13-27 weeks) 3rd Trimester (28-40 weeks)
Adrenal CAH [308,309,367,368]   Adrenal cystic neuroblastoma[307,369,370]
Renal   Bilateral renal agenesis [332,333,371]Unilateral renal agenesis [69,372] Autosomal recessive polycystic kidney disease [315,373,374]Autosomal dominant polycystic kidney disease [89,331]Duplex Kidneys [319] Horseshoe Kidney [320,321,375] Cross fused renal ectopia[322] Fused Pelvic kidney [323] Hydronephrosis[326,376] Multicystic dysplastic kidney [14,115,377,378]Renal hypoplasia [16] Pyelectasis/renal pelvic dilation [14,379,380]MesoblasticNephroma[381]  
Ureteral Anomalies   Ureterocele[165] Ureter duplication[340] Ectopic ureter[346] Megaureter[382,383] Ureteropelvic junction obstruction [336,384,385]
Vesicoureteral Reflux     Vesicoureteral reflux [171,386]
Bladder Anomalies MMIHS [14,171,354,387]Patent Urachus[354] Menkes disease[388-390] Exstrophy[313] Bladder diverticulum [348]
Penile   Hypospadias [200,391] Microphallus[392]  
Urethral Anomalies   Posterior urethral valve [393] Megalourethra[232-234] Urethral stenosis[360]
Vaginal Anomalies   Hydrocolpos/hydrometrocolpos[239] Vaginal obstruction[237] Hydrocolpos/hydrometrocolpos[238,241,394]
Testicular and Scrotal Anomalies   Bifid scrotum [395] Congenital hydrocele [248,396] Cryptorchidism [362,363] Testicular torsion[364,397] Penoscrotal transposition [365]
Prune-belly syndrome Prune-belly syndrome[171,272,273]    
Allantois   Allantoic cysts[280]  
Spinal Dysraphism   Rachischisis[281,282] Myelomeningocele[286] Diastematomyelia[293,398]

Table 2 Earliest trimester in which the anomaly was detected

Summary

Life threatening urogenital anomalies are detected and treatment options are discussed.

Acknowledgments

We gratefully acknowledge literature research assistance from Mrs. Wendy Isser and Ms. Grace Garey.

Compliance with Ethical Standards

The authors declare they have no conflict of interest.

7579

References

  1. Kramer SA (1983) Current status of fetal intervention for congenital hydronephrosis. J Urol 130: 641-646.
  2. Davenport MT, Merguerian PA, Koyle M (2013) Antenatally diagnosed hydronephrosis: current postnatal management. Pediatr Surg Int 29: 207-214.
  3. Epelman M (2014) Neonatal imaging evaluation of common prenatally diagnosed genitourinary abnormalities. Semin Ultrasound CT MR 35: 528-554.
  4. Yang L, Zhao L, Jiang J, Liu J, Tao H, et al. (2015) Serum marker screening during the second trimester for prenatal diagnosis and predicting pregnancy outcome. Nan Fang Yi Ke Da Xue Xue Bao 35: 1059-1062, 1072.
  5. Adzick NS (2013) Prospects for fetal surgery. Early Hum Dev 89: 881-886.
  6. Chen CP (2013) Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. Taiwan J Obstet Gynecol 52: 420-425.
  7. Wijnberger LD, de Kleine M, Voorbij HA, Arabin B, Engel H, et al. (2010) Comparison of vaginal and transabdominal collection of amniotic fluid for fetal lung maturity tests. J Matern Fetal Neonatal Med 23: 613-616.
  8. Alley MH, Hadjiev A, Mazneikova V, Dimitrov A (1998) Four-quadrant assessment of gestational age-specific values of amniotic fluid volume in uncomplicated pregnancies. Acta Obstet Gynecol Scand 77: 290-294.
  9. Dasari P, Niveditta G, Raghavan S (2007) The maximal vertical pocket and amniotic fluid index in predicting fetal distress in prolonged pregnancy. Int J Gynaecol Obstet 96: 89-93.
  10. Hinh ND, Ladinsky JL (2005) Amniotic fluid index measurements in normal pregnancy after 28 gestational weeks. Int J Gynaecol Obstet 91: 132-136.
  11. Kdous M, Khlifi O, Brahem M, Khrouf M, Amari S, et al. (2015) Extensive Thrombosis of the Inferior Vena Cava and Left Renal Vein in a Neonate. Case Rep Obstet Gynecol 2015: 569797.
  12. Spiro JE, Konrad M, Rieger-Fackeldey E, Masjosthusmann K, Amler S, et al. (2015) Renal oligo- and anhydramnios: cause, course and outcome--a single-center study. Arch Gynecol Obstet 292: 327-336.
  13. Kumar M, Thakur S, Puri A, Shukla S, Sharma S, et al. (2014) Fetal renal anomaly: factors that predict survival. J Pediatr Urol 10: 1001-1007.
  14. Dias T, Sairam S, Kumarasiri S (2014) Ultrasound diagnosis of fetal renal abnormalities. Best Pract Res Clin Obstet Gynaecol 28: 403-415.
  15. Body-Bechou D, Loget P, D'Herve D, Le Fiblec B, Grebille AG, et al. (2014) TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. Prenat Diagn 34: 90-93.
  16. Spaggiari E, Stirnemann JJ, Heidet L, Dreux S, Ville Y, et al. (2013) Outcome following prenatal diagnosis of severe bilateral renal hypoplasia. Prenat Diagn 33: 1167-1172.
  17. Gilbert RD, Sukhtankar P, Lachlan K, Fowler DJ (2013) Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatr Nephrol 28: 2217-2220.
  18. Huisman TA, Martin E, Kubik-Huch R, Marincek B (2002) Fetal magnetic resonance imaging of the brain: technical considerations and normal brain development. Eur Radiol 12: 1941-1951.
  19. Li Y, Estroff JA, Mehta TS, Robertson RL, Robson CD, et al. (2011) Ultrasound and MRI of fetuses with ventriculomegaly: can cortical development be used to predict postnatal outcome? AJR Am J Roentgenol 196: 1457-1467.
  20. Limperopoulos C, Robertson RL Jr, Khwaja OS, Robson CD, Estroff JA, et al. (2008) How accurately does current fetal imaging identify posterior fossa anomalies? AJR Am J Roentgenol 190: 1637-1643.
  21. Levine D, Feldman HA, Tannus JF, Estroff JA, Magnino M, et al. (2008) Frequency and cause of disagreements in diagnoses for fetuses referred for ventriculomegaly. Radiology 247: 516-527.
  22. Maki E, Oh K, Rogers S, Sohaey R (2014) Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med 33: 895-904.
  23. Weisstanner C, Kasprian G, Gruber GM, Brugger PC (2015) MRI of the Fetal Brain. Clin Neuroradiol 25 Suppl 2: 189-196.
  24. Levine D (2013) Timing of MRI in pregnancy, repeat exams, access, and physician qualifications. Semin Perinatol 37: 340-344.
  25. Rabie NZ, Canon S, Patel A, Zamilpa I, Magann EF, et al. (2015) Prenatal diagnosis and telemedicine consultation of fetal urologic disorders. J Telemed Telecare .
  26. Kruklitis RJ, Tracy JA, McCambridge MM (2014) Clinical and financial considerations for implementing an ICU telemedicine program. Chest 145: 1392-1396.
  27. Alanee S, Dynda D, LeVault K, Mueller G, Sadowski D, et al. (2014) Delivering kidney cancer care in rural Central and Southern Illinois: a telemedicine approach. Eur J Cancer Care (Engl) 23: 739-744.
  28. Flesche CW, Jalowy A, Inselmann G (2004) Telemedicine in the maritime environment--hightech with a fine tradition. Med Klin (Munich) 99: 163-168.
  29. Pastores SM, O'Connor MF, Kleinpell RM, Napolitano L, Ward N, et al. (2011) The Accreditation Council for Graduate Medical Education resident duty hour new standards: history, changes, and impact on staffing of intensive care units. Crit Care Med 39: 2540-2549.
  30. Bleich MR, Hewlett PO, Santos SR, Rice RB, Cox KS, et al. (2003) Analysis of the nursing workforce crisis: a call to action. Am J Nurs 103: 66-74.
  31. Sidana A, Noori S, Patil N (2014) Utility of smartphone camera in patient management in urology. Can J Urol 21: 7449-7453.
  32. Merke DP, Bornstein SR (2005) Congenital adrenal hyperplasia. Lancet 365: 2125-2136.
  33. Merke DP (2008) Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 93: 653-660.
  34. Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P (2008) The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia. Iran Biomed J 12: 49-53.
  35. Alqahtani MA (2015) A Novel Mutation in the CYP11B1 Gene Causes Steroid 11beta-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy. Int J Endocrinol 2015: 595164.
  36. Odenwald B, Dörr HG, Bonfig W, Schmidt H, Fingerhut R, et al. (2015) Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria. Klin Padiatr 227: 278-283.
  37. White PC, Curnow KM, Pascoe L (1994) Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev 15: 421-438.
  38. Falhammar H (2014) Non-functioning adrenal incidentalomas caused by 21-hydroxylase deficiency or carrier status? Endocrine 47: 308-314.
  39. Koyama Y (2012) Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11beta-hydroxyandrosterone. Clin Chem 58: 741-747.
  40. Flint JL, Jacobson JD (2013) Adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia. Case Rep Endocrinol 2013: 393584.
  41. Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI (1999) Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol 69: 19-29.
  42. Clayton PE (2002) Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 58: 188-195.
  43. Maciejewska-Jeske M, Meczekalski B (2013) Contemporary diagnosis and therapy in women with congenital adrenal hyperplasia. Pol Merkur Lekarski 35: 297-299.
  44. Gunther DF, Bukowski TP, Ritzén EM, Wedell A, Van Wyk JJ (1997) Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studies. J Clin Endocrinol Metab 82: 3324-3327.
  45. Ogilvie CM, Rumsby G, Kurzawinski T, Conway GS (2006) Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. Eur J Endocrinol 154: 405-408.
  46. Orbach D, Sarnacki S, Brisse HJ, Gauthier-Villars M, Jarreau PH, et al. (2013) Neonatal cancer. Lancet Oncol 14: e609-620.
  47. Gurney JG, Ross JA, Wall DA, Bleyer WA, Severson RK, et al. (1997) Infant cancer in the U.S.: histology-specific incidence and trends, 1973 to 1992. J Pediatr Hematol Oncol 19: 428-432.
  48. Acharya S, Jayabose S, Kogan SJ, Tugal O, Beneck D, et al. (1997) Prenatally diagnosed neuroblastoma. Cancer 80: 304-310.
  49. Vara Castrodeza A, García Hernández J, Mateos Ares A, Sales Fernández C, Cuesta Varela F, et al. (1999) Cystic neuroblastoma: atypical presentation in newborns. Arch Esp Urol 52: 987-990.
  50. Nagaraj UD, Kline-Fath BM (2015) Diagnostic Imaging of Fetal and Neonatal Abdominal and Soft Tissue Tumors. Curr Pediatr Rev 11: 143-150.
  51. Erol O, Suren D, Buyukkinaci EM(2013) Prenatal diagnosis of adrenal neuroblastoma: a case report with a brief review of the literature. Case Rep Obstet Gynecol 2013: 506490.
  52. Granata C, Fagnani AM, Gambini C, Boglino C, Bagnulo S, et al. (2000) Features and outcome of neuroblastoma detected before birth. J Pediatr Surg 35: 88-91.
  53. Ruminska M, Welc-Dobies J, Lange M, Maciejewska J, Pyrzak B, et al. (2008) Adrenal haemorrhage in neonates: risk factors and diagnostic and clinical procedure. Med Wieku Rozwoj 12: 457-462.
  54. Gyurkovits Z, Maróti Á, Rénes L, Németh G, Pál A, et al. (2015) Adrenal haemorrhage in term neonates: a retrospective study from the period 2001-2013. J Matern Fetal Neonatal Med 28: 2062-2065.
  55. Arthur FH (1974) Edith L. Potter, M.D.--pathologist. J Am Med Womens Assoc 29: 508-510.
  56. Dunn PM (2007) Dr Edith Potter (1901 1993) of Chicago: pioneer in perinatal pathology. Arch Dis Child Fetal Neonatal Ed 92: F419-420.
  57. Hoffman NY (1982) Edith Potter, MD, PhD: pioneering infant pathology. JAMA 248: 1551-1553.
  58. WELCH RG (1958) The Potter syndrome of renal agenesis. Br Med J 1: 1102-1103.
  59. Miskin M (1979) Prenatal diagnosis of renal agenesis by ultrasonography and maternal pyelography. AJR Am J Roentgenol 132: 1025.
  60. SELBY GW, PARMELEE AH Jr (1956) Bilateral renal agenesis and oligohydramnios. J Pediatr 48: 70-72.
  61. Sanna-Cherchi S, Caridi G, Weng PL, Scolari F, Perfumo F, et al. (2007) Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22: 1675-1684.
  62. Slickers JE, Olshan AF, Siega-Riz AM, Honein MA, Aylsworth AS; National Birth Defects Prevention Study (2008) Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study. Am J Epidemiol 168: 1259-1267.
  63. Romero R, Cullen M, Grannum P, Jeanty P, Reece EA, et al. (1985) Antenatal diagnosis of renal anomalies with ultrasound. III. Bilateral renal agenesis. Am J Obstet Gynecol 151: 38-43.
  64. Bienstock JL, Birsner ML, Coleman F, Hueppchen NA (2014) Successful in utero intervention for bilateral renal agenesis. Obstet Gynecol 124: 413-415.
  65. Dogan CS, Torun Bayram M(2013) Renal outcome of children with unilateral renal agenesis. Turk J Pediatr 55: 612-615.
  66. Westland R, Schreuder MF, Ket JC, van Wijk JA (2013) Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. Nephrol Dial Transplant 28: 1844-1855.
  67. Tabel Y, Aksoy Ö, Elmas AT, Çelik SF (2015) Evaluation of hypertension by ambulatory blood pressure monitoring in children with solitary kidney. Blood Press 24: 119-123.
  68. Bronshtein M, Bar-Hava I, Lightman A (1995) The significance of early second-trimester sonographic detection of minor fetal renal anomalies. Prenat Diagn 15: 627-632.
  69. Dell'Acqua A, Mengozzi E, Rizzo F, Ciccone MA, Lituania M, et al. (2002) Ultrafast MR imaging of the foetus: a study of 25 non-central nervous system anomalies. Radiol Med 104: 75-86.
  70. Hawkins JS, Dashe JS, Twickler DM (2008) Magnetic resonance imaging diagnosis of severe fetal renal anomalies. Am J Obstet Gynecol 198: 328.
  71. Stella A (1998) Hereditary renal agenesis . Report of a case. Minerva Ginecol 50: 255-259.
  72. Verghese P, Miyashita Y (2014) Neonatal polycystic kidney disease. Clin Perinatol 41: 543-560.
  73. Badis CM, Aida M, Lamia S, Ben Romdhane B, Ezzedine S, et al. (2000) Value of fetal MRI in the prenatal diagnosis of renal polycystic disease: a case report. Tunis Med 78: 613-615.
  74. Yoder BK, Mulroy S, Eustace H, Boucher C, Sandford R (2006) Molecular pathogenesis of autosomal dominant polycystic kidney disease. Expert Rev Mol Med 8: 1-22.
  75. OSATHANONDH V, POTTER EL (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. SURVEY OF RESULTS OF MICRODISSECTION. Arch Pathol 77: 510-512.
  76. OSATHANONDH V, POTTER EL (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 4 DUE TO URETHRAL OBSTRUCTION. Arch Pathol 77: 502-509.
  77. OSATHANONDH V, POTTER EL (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 2 DUE TO INHIBITION OF AMPULLARY ACTIVITY. Arch Pathol 77: 474-484.
  78. OSATHANONDH V, POTTER EL (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 1 DUE TO HYPERPLASIA OF INTERSTITIAL PORTIONS OF COLLECTING TUBULES. Arch Pathol 77: 466-473.
  79. OSATHANONDH V, POTTER EL (1964) PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY. Arch Pathol 77: 459-465.
  80. Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, et al. (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet 7: 429-432.
  81. Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, et al. (2005) Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet 42: 336-349.
  82. Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76: 137-144.
  83. Kaariainen H (1988) Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound, and computed tomography. Pediatr Radiol 18: 45-50.
  84. Roy S, Dillon MJ, Trompeter RS, Barratt TM (1997) Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol 11: 302-306.
  85. Reuss A, Wladimiroff JW, Niermeyer MF (1991) Sonographic, clinical and genetic aspects of prenatal diagnosis of cystic kidney disease. Ultrasound Med Biol 17: 687-694.
  86. Corradi V, Gastaldon F, Virzì GM, Caprara C, Martino F, et al. (2015) Clinical and laboratory markers of autosomal dominant polycystic kidney disease (ADPKD) progression: an overview. Minerva Med 106: 53-64.
  87. Harris PC, Torres VE (1993) Polycystic Kidney Disease, Autosomal Dominant, in GeneReviews (R), R.A. Pagon, et al., Editors, Seattle (WA).
  88. Euser AG, Sung JF, Reeves S (2015) Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease. J Perinatol 35: 537-538.
  89. Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, et al. (1984) Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 132: 1153-1154.
  90. Davidovits M, Eisenstein B, Ziv N, Krause I, Cleper R, et al. (2004) Unilateral duplicated system: comparative length and function of the kidneys. Clin Nucl Med 29: 99-102.
  91. Adiego B, Martinez-Ten P, Perez-Pedregosa J, Illescas T, Barron E, et al. (2011) Antenatally diagnosed renal duplex anomalies: sonographic features and long-term postnatal outcome. J Ultrasound Med 30: 809-815.
  92. Gupta M, Pandey AK, Goyal N (2007) Horseshoe kidney--a case report. Nepal Med Coll J 9: 63-66.
  93. Doménech-Mateu JM, Gonzalez-Compta X (1988) Horseshoe kidney: a new theory on its embryogenesis based on the study of a 16-mm human embryo. Anat Rec 222: 408-417.
  94. Hohenfellner M, Schultz-Lampel D, Lampel A, Steinbach F, Cramer BM, et al. (1992) Tumor in the horseshoe kidney: clinical implications and review of embryogenesis. J Urol 147: 1098-1102.
  95. Natsis K, Piagkou M, Skotsimara A, Protogerou V, Tsitouridis I, et al. (2014) Horseshoe kidney: a review of anatomy and pathology. Surg Radiol Anat 36: 517-526.
  96. Rodriguez MM (2014) Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). Fetal Pediatr Pathol 33: 293-320.
  97. Solanki S, Bhatnagar V, Gupta AK, Kumar R (2013) Crossed fused renal ectopia: Challenges in diagnosis and management. J Indian Assoc Pediatr Surg 18: 7-10.
  98. Patel TV, Singh AK (2008) Crossed fused ectopia of the kidneys. Kidney Int 73: 662.
  99. Chavis CV, Press HC Jr, Gumbs RV (1992) Fused pelvic kidneys: case report. J Natl Med Assoc 84: 980-982.
  100. Masih S, Bakhda RK, Collins JD (1988) Pelvic fused kidneys: magnetic resonance imaging and intravenous pyelogram correlation. J Natl Med Assoc 80: 925-927.
  101. Suzuki S, Ishida H, Niizawa M, Arakawa H, Masamune O (1988) Sonographic features of renal malrotation--a case report. Rinsho Hoshasen 33: 413-416.
  102. Patil ST, Meshram MM, Kasote AP (2011) Bilateral malrotation and lobulation of kidney with altered hilar anatomy: a rare congenital variation. Surg Radiol Anat 33: 941-944.
  103. Mandic V (2015) Recent diagnostic and therapeutic approaches to prenatally and perinatally diagnosed hydronephrosis and their implementation in the University Clinical Hospital Mostar. Coll Antropol 39: 267-274.
  104. Mallik M, Watson AR (2008) Antenatally detected urinary tract abnormalities: more detection but less action. Pediatr Nephrol 23: 897-904.
  105. Sairam S, Al-Habib A, Sasson S, Thilaganathan B (2001) Natural history of fetal hydronephrosis diagnosed on mid-trimester ultrasound. Ultrasound Obstet Gynecol 17: 191-196.
  106. Josephson S (2000) Antenatally detected pelvi-ureteric junction obstruction: concerns about conservative management. BJU Int 85: 973.
  107. Barbosa JA (2012) Postnatal longitudinal evaluation of children diagnosed with prenatal hydronephrosis: insights in natural history and referral pattern. Prenat Diagn 32: 1242-1249.
  108. Lee RS, Cendron M, Kinnamon DD, Nguyen HT (2006) Antenatal hydronephrosis as a predictor of postnatal outcome: a meta-analysis. Pediatrics 118: 586-593.
  109. Koff SA (2000) Postnatal management of antenatal hydronephrosis using an observational approach. Urology 55: 609-611.
  110. Akhavan A, Shnorhavorian M, Garrison LP Jr, Merguerian PA (2014) Resource utilization and costs associated with the diagnostic evaluation of nonrefluxing primary hydronephrosis in infants. J Urol 192: 919-924.
  111. Al Naimi A, Baumüller JE, Spahn S, Bahlmann F (2013) Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. Prenat Diagn 33: 726-731.
  112. Cardona-Grau D, Kogan BA (2015) Update on Multicystic Dysplastic Kidney. Curr Urol Rep 16: 67.
  113. Bacchetta J, Liutkus A, Dodat H, Cochat P; pour la Réunion pluridisciplinaire de diagnostic anténatal en néphro-urologie (2008) Multicystic dysplastic kidney disease: update and information for parents at the time of prenatal diagnosis. Arch Pediatr 15: 1107-1115.
  114. Correas JM, Joly D, Chauveau D, Richard S, Hélénon O (2011) Renal failure and cystic kidney diseases. J Radiol 92: 308-322.
  115. Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, et al. (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 45: 299-303.
  116. Kudo E, Kamatani N, Tezuka O, Taniguchi A, Yamanaka H, et al. (2004) Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney Int 65: 1589-1597.
  117. Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, et al. (2003) A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 14: 2883-2893.
  118. Tinschert S (2004) Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. Nephrol Dial Transplant 19: 3150-3154.
  119. Cain JE, Di Giovanni V, Smeeton J, Rosenblum ND (2010) Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment. Pediatr Res 68: 91-98.
  120. Ahmad G, Green P (2005) Outcome of fetal pyelectasis diagnosed antenatally. J Obstet Gynaecol 25: 119-122.
  121. Kim DY, Mickelson JJ, Helfand BT, Maizels M, Kaplan WE, et al. (2009) Fetal pyelectasis as predictor of decreased differential renal function. J Urol 182: 1849-1853.
  122. Srinivasan HB, Srinivasan N, Dhungel P, London R, Lampley C, et al. (2013) Natural history of fetal renal pyelectasis. J Matern Fetal Neonatal Med 26: 166-168.
  123. Anunobi CC, Badmos KB, Onyekwelu VI, Ikeri NZ (2014) Congenital mesoblastic nephroma in a premature neonate: a case report and review of literature. Niger J Clin Pract 17: 255-259.
  124. Giulian BB (1984) Prenatal ultrasonographic diagnosis of fetal renal tumors. Radiology 152: 69-70.
  125. Montaruli E, Fouquet V (2013) Prenatal diagnosis of congenital mesoblastic nephroma. Fetal Diagn Ther 33: 79-80.
  126. Linam LE, Yu X, Calvo-Garcia MA, Rubio EI, Crombleholme TM, et al. (2010) Contribution of magnetic resonance imaging to prenatal differential diagnosis of renal tumors: report of two cases and review of the literature. Fetal Diagn Ther 28: 100-108.
  127. Viart L, Haraux E, Blanpain S, Cordonnier C, Ricard J, et al. (2012) Congenital mesoblastic nephroma: diagnosis and treatment of one case. Prog Urol 22: 189-191.
  128. Bayindir P (2009) Cellular mesoblastic nephroma (infantile renal fibrosarcoma): institutional review of the clinical, diagnostic imaging, and pathologic features of a distinctive neoplasm of infancy. Pediatr Radiol 39: 1066-1074.
  129. McLoughlin MA, Chew DJ (2000) Diagnosis and surgical management of ectopic ureters. Clin Tech Small Anim Pract 15: 17-24.
  130. Plaire JC, Pope JC 4th, Kropp BP, Adams MC, Keating MA, et al. (1997) Management of ectopic ureters: experience with the upper tract approach. J Urol 158: 1245-1247.
  131. Chowdhary SK, Lander A, Parashar K, Corkery JJ (2001) Single-system ectopic ureter: a 15-year review. Pediatr Surg Int 17: 638-641.
  132. Ahmed S, Morris LL, Byard RW (1992) Ectopic ureter with complete ureteric duplication in the female child. J Pediatr Surg 27: 1455-1460.
  133. Roy Choudhury S, Chadha R, Bagga D, Puri A, Debnath PR (2008) Spectrum of ectopic ureters in children. Pediatr Surg Int 24: 819-823.
  134. Berrocal T, López-Pereira P, Arjonilla A, Gutiérrez J (2002) Anomalies of the distal ureter, bladder, and urethra in children: embryologic, radiologic, and pathologic features. Radiographics 22: 1139-1164.
  135. Siomou E (2006) Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 children. J Urol 175: 678-681.
  136. Dore B, Irani J, De Lustrac JM, Aubert J (1990) Vesicorenal reflux and ureteral duplication. Study of 62 cases. J Urol (Paris) 96: 303-310.
  137. Caldamone AA (1985) Duplication anomalies of the upper tract in infants and children. Urol Clin North Am 12: 75-91.
  138. Prakash, Rajini T, Venkatiah J, Bhardwaj AK, Singh DK, et al. (2011) Double ureter and duplex system: a cadaver and radiological study. Urol J 8: 145-148.
  139. Chacko JK, Koyle MA, Mingin GC, Furness PD 3rd (2007) Ipsilateral ureteroureterostomy in the surgical management of the severely dilated ureter in ureteral duplication. J Urol 178: 1689-1692.
  140. Lockhart JL, Singer AM, Glenn JF (1979) Congenital megaureter. J Urol 122: 310-314.
  141. Sigel A, Schrott KM (1982) Congenital megaureter and its implications. Urologe A 21: 312-317.
  142. Vlad M, Ionescu N, Ispas AT, Ungureanu E, Stoica C (2007) Morphological study of congenital megaureter. Rom J Morphol Embryol 48: 381-390.
  143. Suzuki Y, Einarsson JI (2008) Congenital megaureter. Rev Obstet Gynecol 1: 152-153.
  144. Di Renzo D, Aguiar L, Cascini V, Di Nicola M, McCarten KM, et al. (2013) Long-term followup of primary nonrefluxing megaureter. J Urol 190: 1021-1026.
  145. Shukla AR, Cooper J, Patel RP, Carr MC, Canning DA, et al. (2005) Prenatally detected primary megaureter: a role for extended followup. J Urol 173: 1353-1356.
  146. McLellan DL, Retik AB, Bauer SB, Diamond DA, Atala A, et al. (2002) Rate and predictors of spontaneous resolution of prenatally diagnosed primary nonrefluxing megaureter. J Urol 168: 2177-2180.
  147. Wilcox D, Mouriquand P (1998) Management of megaureter in children. Eur Urol 34: 73-78.
  148. Dòmini M, Aquino A, Pappalepore N, Tursini S, Marino N, et al. (1999) Conservative treatment of neonatal primary megaureter. Eur J Pediatr Surg 9: 396-399.
  149. Sheu JC, Chang PY, Wang NL, Tsai TC, Huang FY (1998) Is surgery necessary for primary non-refluxing megaureter? Pediatr Surg Int 13: 501-503.
  150. Klein J, Gonzalez J, Miravete M, Caubet C, Chaaya R, et al. (2011) Congenital ureteropelvic junction obstruction: human disease and animal models. Int J Exp Pathol 92: 168-192.
  151. Papachristou F, Pavlaki A, Printza N (2014) Urinary and serum biomarkers in ureteropelvic junction obstruction: a systematic review. Biomarkers 19: 531-540.
  152. Chang CP, McDill BW, Neilson JR, Joist HE, Epstein JA, et al. (2004) Calcineurin is required in urinary tract mesenchyme for the development of the pyeloureteral peristaltic machinery. J Clin Invest 113: 1051-1058.
  153. Mandell J, Blyth BR, Peters CA, Retik AB, Estroff JA, et al. (1991) Structural genitourinary defects detected in utero. Radiology 178: 193-196.
  154. Williams B, Tareen B, Resnick MI (2007) Pathophysiology and treatment of ureteropelvic junction obstruction. Curr Urol Rep 8: 111-117.
  155. Cherrie RJ, Kaufman JJ (1983) Pyeloplasty for ureteropelvic junction obstruction in adults: correlation of radiographic and clinical results. J Urol 129: 711-714.
  156. Avery DI, Herbst KW, Lendvay TS, Noh PH, Dangle P, et al. (2015) Robot-assisted laparoscopic pyeloplasty: Multi-institutional experience in infants. J Pediatr Urol 11: 139.
  157. Cost NG (2015) Commentary to "Robot-assisted laparoscopic pyeloplasty: Multi-institutional experience in infants". J Pediatr Urol 11: 140.
  158. Coplen DE, Duckett JW (1995) The modern approach to ureteroceles. J Urol 153: 166-171.
  159. Conlin MJ, Skoog SJ, Tank ES (1995) Current management of ureteroceles. Urology 45: 357-362.
  160. Direnna T, Leonard MP (2006) Watchful waiting for prenatally detected ureteroceles. J Urol 175: 1493-1495.
  161. Godinho AB, Nunes C, Janeiro M, Carvalho R, Melo MA, et al. (2013) Ureterocele: antenatal diagnosis and management. Fetal Diagn Ther 34: 188-191.
  162. Kajbafzadeh AM, Payabvash S, Sadeghi Z, Elmi A, Jamal A, et al. (2008) Comparison of magnetic resonance urography with ultrasound studies in detection of fetal urogenital anomalies. J Pediatr Urol 4: 32-39.
  163. Timberlake MD, Corbett ST (2015) Minimally invasive techniques for management of the ureterocele and ectopic ureter: upper tract versus lower tract approach. Urol Clin North Am 42: 61-76.
  164. Arlen AM, Cooper CS (2015) Controversies in the Management of Vesicoureteral Reflux. Curr Urol Rep 16: 64.
  165. Mathews R, Carpenter M, Chesney R, Hoberman A, Keren R, et al. (2009) Controversies in the management of vesicoureteral reflux: the rationale for the RIVUR study. J Pediatr Urol 5: 336-341.
  166. Lee NG, Rushton HG, Peters CA, Groves DS, Pohl HG (2014) Evaluation of prenatal hydronephrosis: novel criteria for predicting vesicoureteral reflux on ultrasonography. J Urol 192: 914-918.
  167. Fievet L, Faure A, Coze S, Harper L, Panait N, et al. (2014) Fetal megacystis: etiologies, management, and outcome according to the trimester. Urology 84: 185-190.
  168. Taguchi K, Shimada K, Ikoma F (1991) Urinary tract anomalies detected in prenatal diagnosis. Hinyokika Kiyo 37: 1389-1394.
  169. Blane CE, Zerin JM, Bloom DA (1994) Bladder diverticula in children. Radiology 190: 695-697.
  170. Zia-Ul-Miraj M (1999) Congenital bladder diverticulum: a rare cause of bladder outlet obstruction in children. J Urol 162: 2112-2113.
  171. Lattimer JK, Smith MJ (1965) Exstrophy closure: a followup on 70 cases. Trans Am Assoc Genitourin Surg 57: 102-105.
  172.  Epidemiology of bladder exstrophy and epispadias: a communication from the International Clearinghouse for Birth Defects Monitoring Systems(1987) Teratology 36: 221-227.
  173. Arlen AM, Smith EA (2014) Disorders of the bladder and cloacal anomaly. Clin Perinatol 41: 695-707.
  174. Tekes A, Ertan G, Solaiyappan M, Stec AA, Sponseller PD, et al. (2014) 2D and 3D MRI features of classic bladder exstrophy. Clin Radiol 69: e223-229.
  175. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, et al. (1976) Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol 126: 957-964.
  176. Liaqat N, Nayyar S, Iqbal A, Hameed Dar S (2015) Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity. J Neonatal Surg 4: 11.
  177. Machado L, Matias A, Rodrigues M, Mariz C, Monteiro J, et al. (2013) Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. Ultrasound Obstet Gynecol 41: 345-347.
  178. Mc Laughlin D, Puri P (2013) Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int 29: 947-951.
  179. Hellmeyer L, Herz K, Maslovar S, Liedke B, Laux R, et al. (2013) Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography. Z Geburtshilfe Neonatol 217: 35-37.
  180. Tuzovic L (2015) New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding gamma-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). Fetal Diagn Ther.
  181. Tsai MS, Yeh ML (2011) Images in clinical medicine. Patent urachus. N Engl J Med 365: 1328.
  182. McConnell MF, Bradley KT, Weiss SL, Cantor RM (2015) Ultrasound evaluation of urachal abscess in a young infant. Pediatr Emerg Care 31: 135-137.
  183. Lane V, Patel R, Daniel RD (2013) Prolapsed urachal sinus with pyourachus in an infant. J Pediatr Surg 48: e17-19.
  184. Depree PJ, Wong CK (2007) Patent urachus in a neonate: findings at micturating cystourethregram. Australas Radiol 51 Suppl: B224-226.
  185. MENKES JH, ALTER M, STEIGLEDER GK, WEAKLEY DR, SUNG JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29: 764-779.
  186. Zlatic S, Comstra HS, Gokhale A, Petris MJ, Faundez V (2015) Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. Neurobiol Dis .
  187. Kaler SG (2011) ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol 7: 15-29.
  188. Kodama H, Okabe I, Yanagisawa M, Kodama Y (1989) Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J Inherit Metab Dis 12: 386-389.
  189. Hebert KL, Martin AD (2015) Management of Bladder Diverticula in Menkes Syndrome: A Case Report and Review of the Literature. Urology 86: 162-164.
  190. Prasad AN, Levin S, Rupar CA, Prasad C (2011) Menkes disease and infantile epilepsy. Brain Dev 33: 866-876.
  191. Montag S, Palmer LS (2011) Abnormalities of penile curvature: chordee and penile torsion. ScientificWorldJournal 11: 1470-1478.
  192. Nelson CP, Park JM, Wan J, Bloom DA, Dunn RL, et al. (2005) The increasing incidence of congenital penile anomalies in the United States. J Urol 174: 1573-1576.
  193. Braga LH, Pippi Salle JL, Dave S, Bagli DJ, Lorenzo AJ, et al. (2007) Outcome analysis of severe chordee correction using tunica vaginalis as a flap in boys with proximal hypospadias. J Urol 178: 1693-1697.
  194. Meizner I (2002) The 'tulip sign': a sonographic clue for in-utero diagnosis of severe hypospadias. Ultrasound Obstet Gynecol 19: 250-253.
  195. Sides D, Goldstein RB, Baskin L, Kleiner BC (1996) Prenatal diagnosis of hypospadias. J Ultrasound Med 15: 741-746.
  196. Reddy SS, Inouye BM, Anele UA, Abdelwahab M, Le B, et al. (2015) Sexual Health Outcomes in Adults with Complete Male Epispadias. J Urol 194: 1091-1095.
  197. Lue K, Gandhi NM, Young E, Reddy SS, Carl A, et al. (2015) The Tunica Vaginalis Flap as an Adjunct to Epispadias Repair: a Preliminary Report. Urology .
  198. Baskin LS, Ebbers MB (2006) Hypospadias: anatomy, etiology, and technique. J Pediatr Surg 41: 463-472.
  199. Baskin L (2001) Hypospadias: a critical analysis of cosmetic outcomes using photography. BJU Int 87: 534-539.
  200. Baskin LS (2000) Hypospadias and urethral development. J Urol 163: 951-956.
  201. Baskin LS, Erol A, Li YW, Cunha GR (1998) Anatomical studies of hypospadias. J Urol 160: 1108-1115.
  202. Baskin LS, Duckett JW, Ueoka K, Seibold J, Snyder HM 3rd (1994) Changing concepts of hypospadias curvature lead to more onlay island flap procedures. J Urol 151: 191-196.
  203. George M, Schneuer FJ, Jamieson SE, Holland AJ (2015) Genetic and environmental factors in the aetiology of hypospadias. Pediatr Surg Int 31: 519-527.
  204. Shih EM, Graham JM Jr (2014) Review of genetic and environmental factors leading to hypospadias. Eur J Med Genet 57: 453-463.
  205. Manson JM, Carr MC (2003) Molecular epidemiology of hypospadias: review of genetic and environmental risk factors. Birth Defects Res A Clin Mol Teratol 67: 825-836.
  206. Stoll C, Alembik Y, Roth MP, Dott B (1990) Genetic and environmental factors in hypospadias. J Med Genet 27: 559-563.
  207. Nakamura Y, Jennings RW, Connolly S, Diamond DA (2010) Fetal diagnosis of penoscrotal transposition associated with perineal lipoma in one twin. Fetal Diagn Ther 27: 164-167.
  208. Nemec SF, Kasprian G, Brugger PC, Bettelheim D, Nemec U, et al. (2011) Abnormalities of the penis in utero--hypospadias on fetal MRI. J Perinat Med 39: 451-456.
  209. Lee PA, Mazur T, Danish R, Amrhein J, Blizzard RM, et al. (1980) Micropenis. I. Criteria, etiologies and classification. Johns Hopkins Med J 146: 156-163.
  210. Cimador M, Catalano P, Ortolano R, Giuffrè M (2015) The inconspicuous penis in children. Nat Rev Urol 12: 205-215.
  211. Ishii T, Sasaki G, Hasegawa T, Sato S, Matsuo N, et al. (2004) Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. J Urol 172: 319-324.
  212. McMahon DR, Kramer SA, Husmann DA (1995) Micropenis: does early treatment with testosterone do more harm than good? J Urol 154: 825-829.
  213. Joudi M, Fathi M, Hiradfar M (2011) Incidence of asymptomatic meatal stenosis in children following neonatal circumcision. J Pediatr Urol 7: 526-528.
  214. Ceylan K, Burhan K, Yilmaz Y, Can S, KuÅŸ A, et al. (2007) Severe complications of circumcision: an analysis of 48 cases. J Pediatr Urol 3: 32-35.
  215. Mahmoudi H (2005) Evaluation of meatal stenosis following neonatal circumcision. Urol J 2: 86-88.
  216. Robson WL, Leung AK (1992) The circumcision question. Postgrad Med 91: 237-242, 244.
  217. Manzoni C, Valentini AL (2002) Posterior urethral valves. Rays 27: 131-134.
  218. Warren J, Pike JG, Leonard MP (2004) Posterior urethral valves in Eastern Ontario - a 30 year perspective. Can J Urol 11: 2210-2215.
  219. Sodhi KS, Saxena AK (2013) Congenital scaphoid megalourethra. Indian Pediatr 50: 971-972.
  220. Ozokutan BH, Küçükaydin M, Ceylan H, Gözüküçük A, Karaca F (2005) Congenital scaphoid megalourethra: report of two cases. Int J Urol 12: 419-421.
  221. Cetinkursun S, Oztürk H, Sakarya MT, Sürer L (1996) Congenital megalourethra. Indian J Pediatr 63: 566-568.
  222. Sreetharan V, Sommerland BC, Kangesu L (2006) A case of congenital megalourethra. J Plast Reconstr Aesthet Surg 59: 550-552.
  223. Seki N, Senoh K, Kubo S, Tsunoda T (1998) Congenital megalourethra: a case report. Int J Urol 5: 191-193.
  224. Sharma AK, Shekhawat NS, Agarwal R, Upadhyay A, Mendoza WX, et al. (1997) Megalourethra: a report of four cases and review of the literature. Pediatr Surg Int 12: 458-460.
  225. Amsalem H, Fitzgerald B, Keating S, Ryan G, Keunen J, et al. (2011) Congenital megalourethra: prenatal diagnosis and postnatal/autopsy findings in 10 cases. Ultrasound Obstet Gynecol 37: 678-683.
  226. Sepulveda W, Elorza C, Gutierrez J, Vasquez P, Castro V (2005) Congenital megalourethra: outcome after prenatal diagnosis in a series of 4 cases. J Ultrasound Med 24: 1303-1308.
  227. Yamamoto R, Ishii K, Ukita S, Hidaka N, Kobayashi K, et al. (2013) Fetoscopic diagnosis of congenital megalourethra at early second trimester. Fetal Diagn Ther 34: 63-65.
  228. Ameh EA, Mshelbwala PM, Ameh N (2011) Congenital vaginal obstruction in neonates and infants: recognition and management. J Pediatr Adolesc Gynecol 24: 74-78.
  229. Subramanian S, Sharma R, Gamanagatti S, Agarwala S, Gupta P, et al. (2006) Antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus. Pediatr Radiol 36: 1086-1089.
  230. Winkler NS, Kennedy AM, Woodward PJ (2012) Cloacal malformation: embryology, anatomy, and prenatal imaging features. J Ultrasound Med 31: 1843-1855.
  231. Ayaz UY, Dilli A, Api A (2011) Ultrasonographic diagnosis of congenital hydrometrocolpos in prenatal and newborn period: a case report. Med Ultrason 13: 234-236.
  232. Chen CP, Chang TY, Hsu CY, Liu YP, Tsai FJ, et al. (2012) Persistent cloaca presenting with a perineal cyst: Prenatal ultrasound and magnetic resonance imaging findings. J Chin Med Assoc 75: 190-193.
  233. Nakajima E, Ishigouoka T, Yoshida T, Sato T, Miyamoto T, et al. (2015) Prenatal diagnosis of congenital imperforate hymen with hydrocolpos. J Obstet Gynaecol 35: 311-313.
  234. Taori K, Krishnan V, Sharbidre KG, Andhare A, Kulkarni BR, et al. (2010) Prenatal sonographic diagnosis of fetal persistent urogenital sinus with congenital hydrocolpos. Ultrasound Obstet Gynecol 36: 641-643.
  235. Tseng JJ, Ho JY, Chen WH, Chou MM (2008) Prenatal diagnosis of isolated fetal hydrocolpos secondary to congenital imperforate hymen. J Chin Med Assoc 71: 325-328.
  236. Galifer RB, Bosc O (1987) Congenital abnormalities of the peritoneo-vaginal process. Pediatrie 42: 103-109.
  237. Meizner I, Katz M, Zmora E, Insler V (1983) In utero diagnosis of congenital hydrocele. J Clin Ultrasound 11: 449-450.
  238. Osifo OD, Osaigbovo EO (2008) Congenital hydrocele: prevalence and outcome among male children who underwent neonatal circumcision in Benin City, Nigeria. J Pediatr Urol 4: 178-182.
  239. Miyamoto AT (1977) Abdominoscrotal hydrocele--a congenital genitourinary tract anomaly diagnosed by ultrasound. J Clin Ultrasound 5: 407-409.
  240. Herman A, Schvimer M, Tovbin J, Sandbank J, Bukovski I, et al. (2002) Antenatal sonographic diagnosis of testicular torsion. Ultrasound Obstet Gynecol 20: 522-524.
  241. Massaro G, Sglavo G, Cavallaro A, Pastore G, Nappi C, et al. (2013) Ultrasound prenatal diagnosis of inguinal scrotal hernia and contralateral hydrocele. Case Rep Obstet Gynecol 2013: 764579.
  242. Jirásek J, Tunová T (1973) Results of surgical treatment of congenital hydrocele. Cesk Pediatr 28: 255-257.
  243. Kolon TF, Herndon CD, Baker LA, Baskin LS, Baxter CG, et al. (2014) Evaluation and treatment of cryptorchidism: AUA guideline. J Urol 192: 337-345.
  244. Lee PA, Houk CP (2013) Cryptorchidism. Curr Opin Endocrinol Diabetes Obes 20: 210-216.
  245. Hughes IA, Acerini CL (2008) Factors controlling testis descent. Eur J Endocrinol 159 Suppl 1: S75-82.
  246. Nagraj S, Seah GJ, Farmer PJ, Davies B, Southwell B, et al. (2011) The development and anatomy of the gubernaculum in Hoxa11 knockout mice. J Pediatr Surg 46: 387-392.
  247. Wang Y, Barthold J, Kanetsky PA, Casalunovo T, Pearson E, et al. (2007) Allelic variants in HOX genes in cryptorchidism. Birth Defects Res A Clin Mol Teratol 79: 269-275.
  248. Giannakopoulos X, Chambilomatis P, Filiadis I, Ntourntoufi A, Andronikou S, et al. (1997) Six cases of prenatal and neonatal torsion of the spermatic cord. Int J Urol 4: 324-326.
  249. Hay SA (2007) Collateral circulation after spermatic vessel ligation for abdominal testis and its impact on staged laparoscopically assisted orchiopexy. J Laparoendosc Adv Surg Tech A 17: 124-127.
  250. Gong M, Geary ES, Shortliffe LM (1996) Testicular torsion with contralateral vanishing testis. Urology 48: 306-307.
  251. Sellars ME, Sidhu PS (2003) Ultrasound appearances of the testicular appendages: pictorial review. Eur Radiol 13: 127-135.
  252. Jensen R, Ellebæk M, Rasmussen L, Qvist N (2015) Low success rate of salvage surgery for testicular torsion in newborns. Dan Med J 62: A4997.
  253. Sexton P, Thomas JT, Petersen S, Brown N, Arms JE, et al. (2015) Complete penoscrotal transposition: case report and review of the literature. Fetal Diagn Ther 37: 70-74.
  254. MacKenzie J, Chitayat D, McLorie G, Balfe JW, Pandit PB, et al. (1994) Penoscrotal transposition: a case report and review. Am J Med Genet 49: 103-107.
  255. Pinke LA, Rathbun SR, Husmann DA, Kramer SA (2001) Penoscrotal transposition: review of 53 patients. J Urol 166: 1865-1868.
  256. Saleh A (2010) Correction of incomplete penoscrotal transposition by a modified Glenn-Anderson technique. Afr J Paediatr Surg 7: 181-184.
  257. Inde Y (2014) Bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero mimicking ambiguous genitalia: 2-D/3-D fetal ultrasonography. J Obstet Gynaecol Res 40: 843-848.
  258. Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z (2014) The effect of 5α-reductase-2 deficiency on human fertility. Fertil Steril 101: 310-316.
  259. Bahceci M, Ersay AR, Tuzcu A, Hiort O, Richter-Unruh A, et al. (2005) A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. Urology 66: 407-410.
  260. Odame I, Donaldson MD, Wallace AM, Cochran W, Smith PJ (1992) Early diagnosis and management of 5 alpha-reductase deficiency. Arch Dis Child 67: 720-723.
  261. Eagle JF Jr, Barrett GS (1950) Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. Pediatrics, 6: 721-736.
  262. Aaronson IA, Cremin BJ (1979) Prune belly syndrome in young females. Urol Radiol 1: 151-155.
  263. Routh JC, Huang L, Retik AB, Nelson CP (2010) Contemporary epidemiology and characterization of newborn males with prune belly syndrome. Urology 76: 44-48.
  264. Hassett S, Smith GH, Holland AJ (2012) Prune belly syndrome. Pediatr Surg Int 28: 219-228.
  265. Byon M, Kim GJ (2013) Prune-belly syndrome detected by ultrasound in the first trimester and the usefulness of vesicocentesis as a modality of treatment. Obstet Gynecol Sci 56: 265-268.
  266. Cazorla E, Ruiz F, Abad A, Monleon J (1997) Prune belly syndrome: early antenatal diagnosis. Eur J Obstet Gynecol Reprod Biol 72: 31-33.
  267. Seidel NE, Arlen AM, Smith EA, Kirsch AJ (2015) Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. Urology 85: 211-215.
  268. Tolaymat LL, Maher JE, Kleinman GE, Stalnaker R, Kea K, et al. (1997) Persistent patent urachus with allantoic cyst: a case report. Ultrasound Obstet Gynecol 10: 366-368.
  269. Amano Y, Hayashi T, Takahama K, Kumazaki T (2003) MR imaging of umbilical cord urachal (allantoic) cyst in utero. AJR Am J Roentgenol 180: 1181-1182.
  270. Rempen A (1989) Sonographic first-trimester diagnosis of umbilical cord cyst. J Clin Ultrasound 17: 53-55.
  271. Frazier HA, Guerrieri JP, Thomas RL, Christenson PJ (1992) The detection of a patent urachus and allantoic cyst of the umbilical cord on prenatal ultrasonography. J Ultrasound Med 11: 117-120.
  272. Sachs L, Fourcroy JL, Wenzel DJ, Austin M, Nash JD (1982) Prenatal detection of umbilical cord allantoic cyst. Radiology 145: 445-446.
  273. Bureau M, Bolduc S (2011) Allantoic cysts and posterior urethral valves: a case report. Ultrasound Obstet Gynecol 38: 116-118.
  274. Araujo Júnior E, Nakano ML, Nardozza LM, Haratz KK, Oliveira PS, et al. (2013) Comparison between 2D ultrasonography and magnetic resonance imaging for assessing brain and spine parameters in fetuses with spina bifida. Arch Gynecol Obstet 287: 845-849.
  275. Shoham Z, Caspi B, Chemke J, Dgani R, Lancet M (1988) Iniencephaly: prenatal ultrasonographic diagnosis--a case report. J Perinat Med 16: 139-143.
  276. Ben-Sira L, Garel C, Malinger G, Constantini S (2013) Prenatal diagnosis of spinal dysraphism. Childs Nerv Syst 29: 1541-1552.
  277. Shimoji K, Kimura T, Kondo A, Tange Y, Miyajima M, et al. (2013) Genetic studies of myelomeningocele. Childs Nerv Syst 29: 1417-1425.
  278. Tilley MM, Northrup H, Au KS (2012) Genetic studies of the cystathionine beta-synthase gene and myelomeningocele. Birth Defects Res A Clin Mol Teratol 94: 52-56.
  279. Chao TT, Dashe JS, Adams RC, Keefover-Hicks A, McIntire DD, et al. (2011) Fetal spine findings on MRI and associated outcomes in children with open neural tube defects. AJR Am J Roentgenol 197: W956-961.
  280. Snow-Lisy DC, Yerkes EB, Cheng EY (2015) Update on Urological Management of Spina Bifida from Prenatal Diagnosis to Adulthood. J Urol 194: 288-296.
  281. Akiyama K, Nishiyama K, Yoshimura J, Mori H, Fujii Y (2007) A case of split cord malformation associated with myeloschisis. Childs Nerv Syst 23: 577-580.
  282. Oi S, Matsumoto S, Katayama K, Mochizuki M (1989) New clinical phase in intrauterine diagnosis and therapeutic modalities of CNS anomalies. No Shinkei Geka 17: 1029-1035.
  283. Kachewar SG, Sankaye SB (2014) Diastematomyelia - a report of two cases. J Clin Diagn Res 8: RE01-02.
  284. CobanoÄŸlu S (1989) Diastematomyelia: a report of two cases. Turk J Pediatr 31: 89-94.
  285. Huang SL, He XJ, Wang KZ, Lan BS (2013) Diastematomyelia: a 35-year experience. Spine (Phila Pa 1976) 38: E344-349.
  286. Sonigo-Cohen P, Schmit P, Zerah M, Chat L, Simon I, et al. (2003) Prenatal diagnosis of diastematomyelia. Childs Nerv Syst 19: 555-560.
  287. Turgal M, Ozyuncu O, Talim B, Yazicioglu A, Onderoglu L (2013) Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia. Congenit Anom (Kyoto) 53: 163-165.
  288. Taghavi K, Beasley S (2013) The ex utero intrapartum treatment (EXIT) procedure: application of a new therapeutic paradigm. J Paediatr Child Health 49: E420-427.
  289. Abraham RJ, Sau A, Maxwell D (2010) A review of the EXIT (Ex utero Intrapartum Treatment) procedure. J Obstet Gynaecol 30: 1-5.
  290. Bevilacqua NS, Pedreira DA (2015) Fetoscopy for meningomyelocele repair: past, present and future. Einstein (Sao Paulo) 13: 283-289.
  291. Garabedian C, Jouannic JM, Benachi A, Sénat MV, Favre R, et al. (2015)Fetal therapy and fetoscopy: A reality in clinical practice in 2015. J Gynecol Obstet Biol Reprod (Paris) 44: 597-604.
  292. Sala P, Prefumo F, Pastorino D, Buffi D, Gaggero CR, et al. (2014) Fetal surgery: an overview. Obstet Gynecol Surv 69: 218-228.
  293. Halvorsen CP, Ek S, Dellgren A, Grunewald C, Kublickas M, et al. (2012) Survival and neonatal outcome after fetoscopic guided laser occlusion (FLOC) of twin-to-twin transfusion syndrome (TTTS) in Sweden. J Perinat Med 40: 533-538.
  294. Wang X, Xiong G, Wei Y, Yuan P, Zhao Y (2014) Clinical effect of fetoscopic laser occlusion of chorioangiopagous vessels for twin-twin transfusion syndrome: experience of an center from China. Zhonghua Fu Chan Ke Za Zhi 49: 886-892.
  295. Brown EG, Saadai P, Pivetti CD, Beattie MS, Bresnahan JC, et al. (2014) In utero repair of myelomeningocele with autologous amniotic membrane in the fetal lamb model. J Pediatr Surg 49: 133-137.
  296. Carr MC (2015) Urological results after fetal myelomeningocele repair in pre-MOMS trial patients at the Children's Hospital of Philadelphia. Fetal Diagn Ther 37: 211-218.
  297. Sananes N (2015) Urological fistulas after fetal cystoscopic laser ablation of posterior urethral valves: surgical technical aspects. Ultrasound Obstet Gynecol 45: 183-189.
  298. Clayton DB, Brock JW 3rd (2012) In utero intervention for urologic diseases. Nat Rev Urol 9: 207-217.
  299. Nuchtern JG (2006) Perinatal neuroblastoma. Semin Pediatr Surg 15: 10-16.
  300. Auber F, Larroquet M, Bonnard A, Boudjemaa S, Landman-Parker J, et al. (2005) Prenatal ultrasound diagnosis of neuroblastoma. Gynecol Obstet Fertil 33: 228-231.
  301. New MI, Tong YK, Yuen T, Jiang P, Pina C, et al. (2014) Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 99: E1022-1030.
  302. New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, et al. (2001) Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 86: 5651-5657.
  303. Ma D, Ge H, Li X, Jiang T, Chen F, et al. (2014) Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing. Gene 544: 252-258.
  304. Aslan H, Ozseker B, Gul A (2004) Prenatal sonographic and magnetic resonance imaging diagnosis of cystic neuroblastoma. Ultrasound Obstet Gynecol 24: 693-694.
  305. Nemec SF, Horcher E, Kasprian G, Brugger PC, Bettelheim D, et al. (2012) Tumor disease and associated congenital abnormalities on prenatal MRI. Eur J Radiol 81: e115-122.
  306. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C; EUROSCAN Study Group (2005) Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries. Eur J Med Genet 48: 131-144.
  307. Yagel S, Cohen SM, Porat S, Daum H, Lipschuetz M, et al. (2015) Detailed transabdominal fetal anatomic scanning in the late first trimester versus the early second trimester of pregnancy. J Ultrasound Med 34: 143-149.
  308. Xu Y, Xiao B, Jiang WT, Wang L, Gen HQ, et al. (2014) A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family. Gene 551: 33-38.
  309. Nishi T (1995) Magnetic resonance imaging of autosomal recessive polycystic kidney disease in utero. J Obstet Gynaecol (Tokyo 1995) 21: 471-474.
  310. Wu M, Wang D, Zand L, Harris PC, White WM, et al. (2015) Pregnancy outcomes in autosomal dominant polycystic kidney disease: a case-control study. J Matern Fetal Neonatal Med .
  311. Avni FE, Hall M (2010) Renal cystic diseases in children: new concepts. Pediatr Radiol 40: 939-946.
  312. Chen CP, Chern SR, Tzen CY, Lee MS, Pan CW, et al. (2001) Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat Diagn 21: 317-320.
  313. Kalache KD, Bamberg C, Proquitté H, Sarioglu N, Lebek H, et al. (2006) Three-dimensional multi-slice view: new prospects for evaluation of congenital anomalies in the fetus. J Ultrasound Med 25: 1041-1049.
  314. Cho JY, Lee YH, Toi A, Macdonald B (2005) Prenatal diagnosis of horseshoe kidney by measurement of the renal pelvic angle. Ultrasound Obstet Gynecol 25: 554-558.
  315. Chang PL, Mrazek-Pugh B, Blumenfeld YJ (2011) Prenatal diagnosis of cross-fused renal ectopia: does color Doppler and 3-dimensional sonography help? J Ultrasound Med 30: 578-580.
  316. Batukan C, Yuksel A (2011) Prenatal diagnosis and postnatal outcome of pelvic kidneys. Prenat Diagn 31: 356-359.
  317. Hata T, Mori N, Tenkumo C, Hanaoka U, Kanenishi K, et al. (2011) Three-dimensional volume-rendered imaging of normal and abnormal fetal fluid-filled structures using inversion mode. J Obstet Gynaecol Res 37: 1748-1754.
  318. Wang J, Ying W, Tang D, Yang L, Liu D, et al. (2015) Prognostic value of three-dimensional ultrasound for fetal hydronephrosis. Exp Ther Med 9: 766-772.
  319. Stathopoulos L, Merrot T, Chaumoître K, Bretelle F, Michel F, et al. (2010) Prenatal urinoma related to ureteropelvic junction obstruction: poor prognosis of the affected kidney. Urology 76: 190-194.
  320. Policiano C, Djokovic D, Carvalho R, Monteiro C, Melo MA, et al. (2015) Ultrasound antenatal detection of urinary tract anomalies in the last decade: outcome and prognosis. J Matern Fetal Neonatal Med 28: 959-963.
  321. Bassanese G (2013)Prenatal anteroposterior pelvic diameter cutoffs for postnatal referral for isolated pyelectasis and hydronephrosis: more is not always better. J Urol 190: 1858-1863.
  322. Esmer AC, Kalelioglu I, Kilicaslan I, Gun F, Ziylan O (2013) Prenatal sonographic diagnosis of multicystic congenital mesoblastic nephroma. J Clin Ultrasound 41 Suppl 1: 59-61.
  323. Thakur P, Speer P, Rajkovic A (2014) Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. Case Rep Genet 2014: 517952.
  324. Turco AE (1993) Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. Am J Med Genet 47: 1225-1230.
  325. Geca T (2014) Complementary role of magnetic resonance imaging after ultrasound examination in assessing fetal renal agenesis: a case report. J Med Case Rep 8: 96.
  326. Ghobrial PM, Levy RA, O'Connor SC (2011) The fetal magnetic resonance imaging experience in a large community medical center. J Clin Imaging Sci 1: 29.
  327. Kosus A (2011) Fetal magnetic resonance imaging in obstetric practice. J Turk Ger Gynecol Assoc 12: 39-46.
  328. Jang DG, Chae H, Shin JC, Park IY, Kim M, et al. (2011) Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis. J Obstet Gynaecol Res 37: 1744-1747.
  329. Cassart M, Massez A, Metens T, Rypens F, Lambot MA, et al. (2004) Complementary role of MRI after sonography in assessing bilateral urinary tract anomalies in the fetus. AJR Am J Roentgenol 182: 689-695.
  330. Liu YP, Cheng SJ, Shih SL, Huang JK (2006) Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol 36: 169.
  331. Abdelazim IA, Belal MM (2013) The role of magnetic resonance imaging in refining the diagnosis of suspected fetal renal anomalies. J Turk Ger Gynecol Assoc 14: 6-10.
  332. Hosny IA, Elghawabi HS (2010) Ultrafast MRI of the fetus: an increasingly important tool in prenatal diagnosis of congenital anomalies. Magn Reson Imaging 28: 1431-1439.
  333. Queiroga EE Jr, Martins MG, Rios LT, Araujo Júnior E, Oliveira RV, et al. (2014) Antenatal diagnosis of renal duplication by ultrasonography: report on four cases at a referral center. Urol J 10: 1142-1146.
  334. el Ghoneimi A, Miranda J, Truong T, Monfort G (1996) Ectopic ureter with complete ureteric duplication: conservative surgical management. J Pediatr Surg 31: 467-472.
  335. Arena S, Magno C, Montalto AS, Russo T, Mami C, et al. (2012) Long-term follow-up of neonatally diagnosed primary megaureter: rate and predictors of spontaneous resolution. Scand J Urol Nephrol 46: 201-207.
  336. Zampieri N, Zamboni C, Camoglio FS (2011) Clinical course of grade I-III megaureters detected on prenatal ultrasound. Minerva Pediatr 63: 439-443.
  337. Yitta S, Saadai P, Filly RA (2014) The fetal urinoma revisited. J Ultrasound Med 33: 161-166.
  338. Latayan MJ, Dator JD, Torres CR (2008) Bilaterally obstructed ureteropelvic junction of the upper moieties in a complete duplex collecting system. J Pediatr Urol 4: 93-95.
  339. Chen CP, Liu YP, Huang JP, Chang TY, Tsai FJ, et al. (2008) Prenatal evaluation with magnetic resonance imaging of a giant blind ectopic ureter associated with a duplex kidney. Ultrasound Obstet Gynecol 31: 360-362.
  340. Sozubir S, Lorenzo AJ, Twickler DM, Baker LA, Ewalt DH (2003) Prenatal diagnosis of a prolapsed ureterocele with magnetic resonance imaging. Urology 62: 144.
  341. Gaudet R, Heim N, Merviel P, Lemercier D, Dumont A, et al. (1999) Prenatal diagnosis of a congenital bladder diverticulum. Case report and benefits of prenatal diagnosis. Fetal Diagn Ther 14: 301-305.
  342. Ramaekers P, Loeys B, von Lowtzow C, Reutter H, Leroy Y, et al. (2014) Bladder exstrophy-epispadias complex and triple-X syndrome: incidental finding or causality? Birth Defects Res A Clin Mol Teratol 100: 797-800.
  343. Mallmann MR, Reutter H, Müller A, Boemers TM, Geipel A, et al. (2014) Prenatal diagnosis of covered cloacal exstrophy. Fetal Diagn Ther 36: 333-336.
  344. Mazeau P, Curinier S, Kandem-Simo A, Delabaere A, Laurichesse H, et al. (2014) Prenatal diagnosis and evolution of patent urachus. J Gynecol Obstet Biol Reprod (Paris) 43: 393-396.
  345. Rasteiro C, Ramalho C, Loureiro T, Pereira J, Matias A (2013) Bladder emptying into an umbilical cord cyst: prenatal sonographic sign of allantoic cyst with patent urachus. Ultrasound Obstet Gynecol 42: 239-240.
  346. Sepulveda W, Bower S, Dhillon HK, Fisk NM (1995) Prenatal diagnosis of congenital patent urachus and allantoic cyst: the value of color flow imaging. J Ultrasound Med 14: 47-51.
  347. Sepulveda W, Rompel SM, Cafici D, Carstens E, Dezerega V (2010) Megacystis associated with an umbilical cord cyst: a sonographic feature of a patent urachus in the first trimester. J Ultrasound Med 29: 295-300.
  348. Gu YH, Kodama H, Sato E, Mochizuki D, Yanagawa Y, et al. (2002) Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement. Brain Dev 24: 715-718.
  349. Horn N (1983) Menkes' X-linked disease: prenatal diagnosis and carrier detection. J Inherit Metab Dis 6 Suppl 1: 59-62.
  350. Ebert AK, Reutter H, Ludwig M, Rösch WH (2009) The exstrophy-epispadias complex. Orphanet J Rare Dis 4: 23.
  351. Mandell J, Bromley B, Peters CA, Benacerraf BR (1995) Prenatal sonographic detection of genital malformations. J Urol 153: 1994-1996.
  352. Ruano R, Yoshizaki CT, Giron AM, Srougi M, Zugaib M (2014) Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. Ultrasound Obstet Gynecol 44: 238-240.
  353. Shalev E, Weiner E, Feldman E, Sudarsky M, Shmilowitz L, et al. (1984) External bladder--amniotic fluid shunt for fetal urinary tract obstruction. Obstet Gynecol 63: 31S-34S.
  354. Roy S, Colmant C, Cordier AG, Sénat MV (2015) Contribution of ultrasound signs for the prenatal diagnosis of posterior urethral valves: Experience of 3years at the maternity of the Bicêtre Hospital. J Gynecol Obstet Biol Reprod (Paris) .
  355. Fait G, Yaron Y, Shenhar D, Gull I, Har-Toov J, et al. (2002) Sonographic detection of undescended testes in the third trimester. J Ultrasound Med 21: 15-18.
  356. Benacerraf BR, Bromley B (1998) Sonographic finding of undescended testes in fetuses at 35-40 weeks: significance and outcome. J Clin Ultrasound 26: 69-71.
  357. Devesa R, Muñoz A, Torrents M, Comas C, Carrera JM (1998) Prenatal diagnosis of testicular torsion. Ultrasound Obstet Gynecol 11: 286-288.
  358. Wang Y, Cai A, Sun J, Li T, Wang B, et al. (2011) Prenatal diagnosis of penoscrotal transposition with 2- and 3-dimensional ultrasonography. J Ultrasound Med 30: 1397-1401.
  359. Nemec SF (2011) Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging. Ultrasound Obstet Gynecol 38: 688-694.
  360. Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, et al. (2013) Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. J Clin Endocrinol Metab 98: E528-536.
  361. Miller WL, Witchel SF (2013) Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits. Am J Obstet Gynecol 208: 354-359.
  362. de Luca JL, Rousseau T, Durand C, Sagot P, Sapin E (2002) Diagnostic and therapeutic dilemma with large prenatally detected cystic adrenal masses. Fetal Diagn Ther 17: 11-16.
  363. Heling KS, Bollmann R, Chaoui R, Tennstedt C, Kirchmair F (1995) An isolated fetal kidney cyst as a sign of congenital neuroblastoma. A case report and overview of the literature. Geburtshilfe Frauenheilkd 55: 347-350.
  364. Sepulveda W, Stagiannis KD, Flack NJ, Fisk NM (1995) Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios. Am J Obstet Gynecol 173: 1788-1792.
  365. Steege JF, Caldwell DS (1980) Renal agenesis after first trimester exposure to chlorambucil. South Med J 73: 1414-1415.
  366. Rajanna DK, Reddy A, Srinivas NS, Aneja A (2013) Autosomal recessive polycystic kidney disease: antenatal diagnosis and histopathological correlation. J Clin Imaging Sci 3: 13.
  367. Wisser J (1995) Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester. Prenat Diagn15: 868-871.
  368. Chen CP (2004) Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. Prenat Diagn 24: 455-462.
  369. Ghanmi S, Ben Hamouda H, Krichene I, Soua H, Ayadi A, et al. (2011) Management and follow-up of antenatally diagnosed primary megaureters. Prog Urol 21: 486-491.
  370. Aubertin G, Cripps S, Coleman G, McGillivray B, Yong SL, et al. (2002) Prenatal diagnosis of apparently isolated unilateral multicystic kidney: implications for counselling and management. Prenat Diagn 22: 388-394.
  371. Shukunami K, Nishijima K, Orisaka M, Tajima K, Fukuda S, et al. (2004) Unilateral and bilateral multicystic dysplastic kidneys in fetuses. J Obstet Gynaecol 24: 458-459.
  372. Maizels M (2006) Late second trimester assessment of pyelectasis (SERP) to predict pediatric urological outcome is improved by checking additional features. J Matern Fetal Neonatal Med 19: 295-303.
  373. Coco C, Jeanty P (2005) Isolated fetal pyelectasis and chromosomal abnormalities. Am J Obstet Gynecol 193: 732-738.
  374. Chen WY, Lin CN, Chao CS, Yan-Sheng Lin M, Mak CW, et al. (2003) Prenatal diagnosis of congenital mesoblastic nephroma in mid-second trimester by sonography and magnetic resonance imaging. Prenat Diagn 23: 927-931.
  375. Socolov R, Stratone C, Socolov D (2006) Prenatal diagnostic of congenital unilateral hydronephrosis with megaureter--a case presentation. Rev Med Chir Soc Med Nat Iasi 110: 905-907.
  376. Langer B, Simeoni U, Montoya Y, Casanova R, Schlaeder G (1996) Antenatal diagnosis of upper urinary tract dilation by ultrasonography. Fetal Diagn Ther 11: 191-198.
  377. Van Cangh PJ (2007) Is it always necessary to treat a ureteropelvic junction syndrome? Curr Urol Rep 8: 118-121.
  378. Terras K, Koubaa A, Ben Ayed B, Makhlouf T, Chéchia A, et al. (2000) Prenatal diagnois of uropathies. Ten case reports. Tunis Med 78: 569-575.
  379. Giovannelli G, Mansani FE, Ronchetti R, Accinelli G, Leonardi L (1967) Vesico-ureteral reflux in the last trimester of pregnancy: renographic studies. Ann Ostet Ginecol Med Perinat 89: 733-741.
  380. Bornes M, Spaggiari E, Schmitz T, Dreux S, Czerkiewicz I, et al. (2013) Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis. Prenat Diagn 33: 1162-1166.
  381. Tønnesen T, Horn N, Søndergaard F, Jensen OA (1987) Experience with first trimester prenatal diagnosis of Menkes disease. Curr Probl Dermatol 16: 175-184.
  382. Tønnesen T, Gerdes AM, Damsgaard E, Miny P, Holzgreve W, et al. (1989) First-trimester diagnosis of Menkes disease: intermediate copper values in chorionic villi from three affected male fetuses. Prenat Diagn 9: 159-165.
  383. Tümer Z, Tønnesen T, Böhmann J, Marg W, Horn N (1994) First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 31: 615-617.
  384. Tonni G (2012) Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis. Fetal Pediatr Pathol 31: 379-387.
  385. Danon D, Ben-Shitrit G, Bardin R, Machiach R, Vardimon D, et al. (2012) Reference values for fetal penile length and width from 22 to 36 gestational weeks. Prenat Diagn 32: 829-832.
  386. Sarhan O, Zaccaria I, Macher MA, Muller F, Vuillard E, et al. (2008) Long-term outcome of prenatally detected posterior urethral valves: single center study of 65 cases managed by primary valve ablation. J Urol 179: 307-312.
  387. Hayashi S (2005) Prenatal diagnosis of fetal hydrometrocolpos secondary to a cloacal anomaly by magnetic resonance imaging. Ultrasound Obstet Gynecol 26: 577-579.
  388. Tu YA, Su YN, Yang PK, Shih JC (2014) Prenatal diagnosis of true diphallia and associated anomalies. Obstet Gynecol 124: 416-418.
  389. Seow KM, Cheng WC, Yeh ML, Hwang JL, Tsai YL (2000) Prenatal diagnosis of meconium peritonitis in a twin pregnancy after intracytoplasmic sperm injection. A case report. J Reprod Med 45: 953-956.
  390. Melcer Y, Mendlovic S, Klin B, Keidar R, Lysyy O, et al. (2015) Fetal diagnosis of testicular torsion: what shall we tell the parents? Prenat Diagn 35: 167-173.
  391. Sassi A, Ben Ali N, Cassart M, Van Rysselberge M (2014) Diastematomyelia diagnosed prenatally. Rev Med Brux 35: 39-42.