Edited by: Yesica Quiroz Madarriaga
Fundació Puigvert, Barcelona, Spain
Lisette Aimee t'Hoen
Department of Pediatric Urology, Erasmus MC University Medical Center, Rotterdam-Sophia Children's Hospital, Rotterdam, the Netherland
Last update: September 2025
More infoCongenital renal and urogenital anomalies represent a major part of all congenital anomalies. These range from mild, transient conditions to severe forms leading to irreversible organ damage or perinatal mortality. Timely prenatal identification is crucial for expecting parents and their healthcare providers to decide about the continuation of a pregnancy or for careful planning of perinatal and postnatal care.
ObjectiveTo describe the most common indications for referral of fetal renal and urogenital malformations, the process of narrowing the differential diagnosis based on prenatal ultrasonography and the coordination between prenatal and postnatal care in a tertiary care center in the Netherlands.
ResultsThe most common indications for referral of fetal renal and urogenital malformations are (1) Abnormal Renal Parenchyma, (2) Urinary Tract Dilatation, (3) Abnormal Bladder Appearance, and (4) Atypical Genitalia. In the differential diagnosis, ultrasonographic evaluation is crucial to determine the specific region of the urogenital system affected, its onset during pregnancy, and its progression throughout gestation. Integrated prenatal and postnatal care for these types of malformations relies on a multidisciplinary approach to guide parental decision-making in continuation of the pregnancy and optimize outcomes. Some cases only require routine perinatal care in secondary care centers, while complex malformations benefit from specialized planning at tertiary centers to improve outcomes.
ConclusionDedicated ultrasonographic evaluation of fetal renal and urogenital anomalies in a tertiary care center enables accurate diagnosis and individualized care planning, particularly in complex cases. This approach provides parents with timely information, supports decision-making, and guides individualized perinatal care.
Las anomalías congénitas renales y urogenitales representan una parte importante de todas las anomalías congénitas. Estas varían desde afecciones leves y transitorias hasta formas graves que conducen a daño orgánico irreversible o mortalidad perinatal. La identificación prenatal oportuna es crucial para que los futuros padres y sus profesionales de salud puedan decidir sobre la continuación del embarazo o para una planificación cuidadosa de la atención perinatal y posnatal.
ObjetivoDescribir las indicaciones más comunes de derivación por malformaciones renales y urogenitales fetales, el proceso para realizar el diagnóstico diferencial basado en la ecografía prenatal y la coordinación entre la atención pre-y posnatal en un centro de atención terciaria en los Países Bajos.
ResultadosLas indicaciones más comunes para la derivación por malformaciones renales y urogenitales fetales son (1) Anomalías del parénquima renal, (2) Dilatación de las vías urinarias, (3) Aspecto vesical anormal y (4) Genitales anormales. En el diagnóstico diferencial, la evaluación ecográfica es fundamental para determinar la región específica del sistema urogenital afectada, su aparición durante el embarazo y su evolución a lo largo de la gestación. La atención pre- y posnatal integrada para este tipo de malformaciones se basa en un enfoque multidisciplinar para orientar la toma de decisiones parentales sobre la continuación del embarazo y optimizar los resultados. Algunos casos sólo requieren la atención perinatal habitual en centros de atención secundaria, mientras que las malformaciones complejas se benefician de una planificación especializada en centros terciarios para mejorar los resultados.
ConclusionesLa evaluación ecográfica específica de las anomalías renales y urogenitales fetales en un centro de atención terciaria permite un diagnóstico preciso y una planificación individualizada del manejo, especialmente en los casos complejos. Este enfoque proporciona a los padres información oportuna, apoya la toma de decisiones y guía la atención perinatal individualizada.
Congenital renal and urogenital anomalies represent a significant portion of birth defects, impacting 16 percent and 8 percent of all congenital anomalies respectively, according to European numbers.1 These malformations vary from mild, transient conditions to severe abnormalities that lead to irreversible organ damage, fetal demise or neonatal morbidity and mortality. Timely prenatal identification of these conditions allows a decision about the continuation of a pregnancy or for careful planning of perinatal and postnatal care, with the aim of preventing complications and improving outcomes. It also provides the opportunity for fetal genetic testing and counseling, including procedures such as chorionic villus sampling and amniocentesis when indicated.2
In the Netherlands, prenatal care is highly accessible with pregnant couples being offered the non-invasive prenatal testing (NIPT), a 13-weeks anomaly scan, and a 20-weeks anomaly scan, all reimbursed by health insurance.3,4 Ultrasound detection of renal and urogenital anomalies has become an important part of this national fetal anomaly screening program. The 13-weeks and 20-weeks scans are considered as the standard imaging techniques for the detection of structural anomalies, providing timely critical information that can guide parental decision-making. This latter aspect is particularly important in the Netherlands due to the legal restriction on pregnancy termination, which is allowed up to 24 weeks gestation age (GA).5
When an abnormality is detected during the 13-week or 20-week anomaly scan, pregnant couples are referred to a tertiary care center for further diagnostic evaluation. Tertiary care centers play an essential role in the management of congenital malformations by providing specialized, multidisciplinary care. In our center, the Erasmus University Medical Center (Erasmus MC), Rotterdam, The Netherlands, we offer advanced diagnostic tools, including high-definition ultrasound imaging and genetic testing, together with specialized expertise across various disciplines. The multidisciplinary expertise available at the Erasmus MC ensures that expecting parents of a fetus with a renal or urogenital malformation are seen by a team of specialists, which depending on the diagnosis can include fetal medicine specialists, obstetricians, geneticists, pediatric urologists, pediatric nephrologists and neonatologists.
An accurate differential diagnosis for suspected malformations is critical for this multidisciplinary approach. This enables clinicians to tailor their approach and provides expecting parents with the clearest and most detailed information possible about their child's prognosis.
ObjectiveWith this overview, our objective is to describe the most common reasons for referral to a tertiary center in case of suspected fetal renal and urogenital anomalies, and the differential diagnoses made by use of ultrasonographic evaluation. In addition, we describe the coordination between prenatal and postnatal medicine based on our experiences in the Erasmus MC.
Fetal renal and urogenital malformationsFor this overview, we classify fetal renal and urogenital abnormalities based on the most common reasons for referral. Thus, the reasoning process of the fetal medicine specialist becomes evident, particularly in how a differential diagnosis is formulated.
It is important to realize that there is a crucial difference between prenatal and postnatal evaluation when assessing the fetal urogenital system. Prenatal urogenital evaluation is primarily structural, while postnatal evaluation includes both structural and functional aspects. Prenatally, amniotic fluid volume indirectly represents urine production and thus renal function from 18 gestational weeks onwards,6 but also depends on several other factors, such as maternal disease or medication use, complications in twin pregnancies, fetal pathologies other than urogenital abnormalities, fetal growth restriction or ruptured membranes.7
Abnormal renal parenchymaReferral for fetal renal pathologies may often arise due to abnormal findings regarding the renal parenchyma, indicating conditions with prognostic implications ranging from very mild to severe. For instance, the absence of visible renal parenchyma in the renal fossa and of the renal artery indicates renal agenesis and has a prognosis that depends critically on whether it is a unilateral or bilateral finding. Bilateral renal agenesis, associated with oligohydramnios or anhydramnios depending on the GA, severely impairs fetal pulmonary development and is a lethal condition. As stated above, in early gestation amniotic fluid is placental in origin, and a relatively normal amniotic fluid volume can be present until approximately 16–18 weeks GA, even in fetuses with bilateral renal agenesis.8 Unilateral renal agenesis, however, may have a favorable outcome if the contralateral kidney does not show any abnormalities.9 If unilateral renal agenesis is suspected, one should always think of a possible ectopic kidney, most often located in the pelvis, which is a relatively common finding in such cases. Anomalies like a horseshoe kidney are rare but can be visible with prenatal ultrasound, although prenatal diagnosis is less common due to their subtle sonographic features.
Overall, renal parenchymal pathologies are often underdiagnosed in utero, partly due to the lack of standardized criteria for evaluating renal parenchyma. Although renal echogenicity changes normally throughout gestation—appearing hyperechogenic compared to the fetal liver in the first trimester, iso-echogenic in the second, and hypoechogenic in the third10—hyperechogenic kidneys can be a reason for referral.11
In these cases, the following differential diagnosis can be considered:
- 1)
Autosomal recessive polycystic kidney disease (ARPKD) (Fig. 1);
- 2)
Autosomal dominant polycystic kidney disease (ADPKD);
- 3)
Obstructive dysplasia (Fig. 2);
- 4)
Genetic syndromes (such as Bardet Biedl, Meckel Gruber and trisomy 18);
- 5)
Normal variance.
The prognosis depends on the origin of the echogenic kidneys and can be difficult to establish in the second trimester. Serial ultrasound examinations to assess renal function (i.e. amniotic fluid) and kidney size are required. Oligohydramnios and anhydramnios are indicators of a poor prognosis.
Another reason for referral could be renal cyst(s), of which the ultrasonographic differential diagnosis includes multicystic dysplastic kidney (MCDK), simple renal cysts and polycystic kidneys. The location of the cyst within the kidney, kidney size, and amniotic fluid index can be helpful in distinguishing between diagnoses. MCDK presents with, most often unilateral, multiple cysts in the renal cortex, the absence of a renal pelvis and no normal renal parenchyma on ultrasound.(Fig. 3) It can be confused with hydronephrosis when severely dilated calices mimic large cysts, however the presence of normal parenchyma and a (dilated) renal pelvis indicates hydronephrosis. Simple renal cysts can present early in gestation and the majority of these cysts resolve during pregnancy.12
Urinary tract dilatationUrinary tract dilatation (UTD) is a common finding prenatally as it occurs in 1%–2% of all pregnancies.13,14 An enlarged renal collecting system is defined as an enlarged anteroposterior diameter (APD) of the renal pelvis that depends on the GA. The threshold values for hydronephrosis are an APD exceeding 7 mm in the second trimester and 10 mm in the third trimester, with accompanying calyceal dilation.14,15 The ureters should not be visible in a fetus at any gestational age, thus their appearance is always considered abnormal and classified as hydroureter. Pelvic dilatation can also be mild, just exceeding the upper limits for dilatation and without caliectasis. In such cases it is classified as pyelectasis, a generally benign condition that is most often transient and does not require follow-up in a tertiary care center.16
Of note, up to approximately 60% of UTD cases are detected during routine ultrasound scans in the third trimester.17 Because of increasing urine production in the second trimester, UTD is otherwise typically identified at the 20-weeks anomaly scan and rarely at the 13-weeks scan. Furthermore, normal values for the renal pelvis in the first trimester are not (yet) commonly accessible in the literature and assessment of the kidneys is not part of the screening 13-weeks US scan in The Netherlands. To address this knowledge gap, our center is currently collecting first-trimester kidney data, which we aim to establish as reference values for future use, potentially leading to earlier identification and management of UTD.18
The differential diagnosis of UTD largely depends on the location and the extent of dilatation within the urinary tract. Hydronephrosis without a hydroureter may indicate a ureteropelvic junction (UPJ) obstruction (Fig. 4), whereas renal pelvis dilatation with a hydroureter is more suggestive for vesicoureteral reflux (VUR) or an ureterovesical junction obstruction (Fig. 5). Additionally, severe hydronephrosis can sometimes mimic a MCDK. Therefore, the latter should be included in the differential diagnosis. Since a duplex renal collecting system can be associated with hydronephrosis in one or both moieties, it is advised to thoroughly evaluate the renal aspect and search for a ureterocele in the bladder. Dilatation of the entire system (renal, ureteral and bladder) indicates a congenital lower urinary tract obstruction (cLUTO) (Fig. 6), which can have various etiologies, i.e., posterior urethral valves (PUV) (in male fetuses), urethral atresia, or cloacal malformations (in female fetuses).19 With the exception of transient pyelectasis, prenatal genetic evaluation is always offered if fetal UTD is suspected.
When UTD is confirmed, follow-up ultrasounds in the third trimester are advised to assess any progression or resolution. Re-evaluation includes assessment of the degree of dilation, whether it involves one or both kidneys, amount of amniotic fluid, and any abnormalities associated with the ureters, bladder, or other genitourinary structures. Monitoring UTD over time is important, because the condition varies from mild and self-limiting to severe, with a possible need for early postnatal therapeutic intervention. By assessing the degree and location of dilation, as well as observing the potential involvement of associated structures, one can determine whether a multidisciplinary approach involving pediatric nephrology or urology is necessary.
Abnormal bladder appearanceWhen a fetus is referred with an abnormal appearance of the bladder, this can be for various reasons. The bladder can be enlarged, not visible, or have an abnormal appearance otherwise.
An enlarged bladder is a typical first trimester diagnosis, defined as a bladder with a longitudinal diameter (LBD) of more than 7 mm. Ultrasonographically, true megacystis is characterized by the persistence of increased bladder diameter and its failure to empty over time.(Fig. 7) A slightly enlarged bladder may be transient and not always indicative of a pathological condition. The LBD is a good predictor of resolution in megacystis diagnosed before 18 weeks of gestation. In particular, the ideal LBD cutoff associated with resolution is 12 mm, therefore, LBD can be used to inform about the likelihood of spontaneous resolution.20 In megacystis, the bladder remains markedly distended, often filling much of the fetal pelvis or abdomen, and this enlargement is observed across serial scans. Also, the posterior urethra might be visible (also known as the “keyhole sign”, Fig. 8).21 This sonographic finding suggests underlying obstructive pathology, such as posterior urethral valves or urethral atresia, leading to impaired bladder emptying. In contrast, a transiently enlarged bladder may be observed in healthy fetuses, as fetal bladder filling and emptying is cyclical. Additionally, the presence of oligohydramnios, an increased bladder wall thickness, hydroureter or hydronephrosis on ultrasound can further indicate renal involvement in cases of true megacystis, reflecting compromised urine flow or renal function. The prognosis depends on the presence of associated anomalies such as renal parenchymal dysplasia, pulmonary hypoplasia due to oligohydramnios or anhydramnios, and underlying pathology such as chromosomal abnormalities like trisomy 13 or 18.
In contrast to the striking findings of megacystis, there can also be an absence of a visible bladder despite repeated scanning over time, as the bladder is not within the pelvis and/or does not accumulate urine. In accompanying oligo- or anhydramnios and little filling of the stomach, bilateral renal agenesis, MCDK or other renal abnormalities that may prevent bladder filling due to lack of urine production should first be ruled out. The differential diagnosis also includes bladder exstrophy, especially when a low inserting of the umbilical cord is seen. This is a severe congenital malformation where the bladder is exposed outside the abdominal wall due to incomplete closure of the lower abdominal wall and bladder.22 A bladder exstrophy is furthermore characterized by an anterior abdominal wall defect, a widened pubic symphysis, genital malformations and lower limb anomalies. One should be suspicious of and rule out a cloacal exstrophy which also involves the intestines.
Lastly, an abnormal echogenic structure may be observed within the bladder, often characterized by the presence of a thin membranous structure, consistent with a ureterocele. This cystic dilatation of the terminal ureter in the bladder is frequently associated with the upper pole of a duplex collecting system in the kidney, warranting thorough evaluation of the kidneys.23
Atypical genitaliaThe genitalia are not a mandatory part of the screening 20-weeks anomaly scan, but in practice it is looked at because most parents want to know the sex of their child. Parents may be referred at this stage, earlier during the so-called 'gender ultrasound' performed at approximately 15–16 weeks of gestation, or later in pregnancy during a routine ultrasound when uncertainty regarding the genitals arises. When referred, a dedicated 2-dimensional ultrasound scan and 3-dimensional ultrasound scan is performed by experienced sonographers for detailed and systematic evaluation of the urogenital tract to narrow the differential diagnosis.
To assess the genitals as systematically as possible, we present a flowchart for targeted imaging of the urogenital tract in Fig. 9. In principle, it is helpful for the sonographer to start by looking at the presence or absence of a uterus by measurement of the bladder—rectum distance and by visualization of a mass bulging into the bladder.24 From this, it can be concluded whether the internal genitalia indicate a female or male sex. Then, a systematic assessment of the external genitals can take place, in which the following structures are assessed: labio‐scrotal folds (i.e., distinction of labia minora, or fusion of the labio-scrotal folds and the presence or absence of a raphe), the phallus (i.e., dimensions, presence of blunted tip of the phallus, curvature, visualization of the corpora and their curvature, if possible visualization of the meatus, presence of extra tissue around the phallus); and, if the examination is performed after 28 weeks, the presence and location of the testes. The anal rectal sphincter complex and the insertion of the umbilical cord are being examined. 3D‐US is only used as a complementary tool to 2D‐US when fetal position if favorable and good quality images can be obtained.
Hypospadias is the most common urogenital anomaly of male neonates. However, this anomaly is often not detected before birth. Sonographic findings include a blunt tip of the phallus, abnormal curvature in the sagittal plane and a short penile shaft (Fig. 10a–c).25,26 Assessing the scrotum and whether it appears bifid is also part of the evaluation. Micturition, when visible, might provide additional information as the urinary stream occurs in a direction perpendicular to the shaft of penis from the ventral aspect.27 Predicting the severity of hypospadias, i.e. glandular, penoscrotal or scrotal/perineal, is limited prenatally. The so called ‘tulip sign’28 (Fig. 10c), resulting from a ventrally bent penis located between the two scrotal folds, is a sonographic sign for severe hypospadias. Other genital anomalies that can be visualized prenatally are epispadias (with bladder exstrophy), micropenis, megalourethra or clitoromegaly. In a minority of cases, the prenatal diagnosis of 'ambiguous genitalia' will be made which requires a comprehensive, multidisciplinary, postnatal evaluation to specify the diagnosis.29
The role of genetics and biochemical markers in renal and urogenital anomaliesA comprehensive overview of genetic and biochemical explanations for echogenic abnormalities in the renal and urogenital systems is beyond the scope of this article. Therefore, this section provides a concise overview and highlights key considerations for clinical practice.
When a structural anomaly is suspected on prenatal ultrasound, the expectant parents are offered invasive testing through either chorionic villus sampling or amniocentesis. Chorionic villus sampling is performed between 11 + 0 and 14 + 0 weeks GA, and amniocentesis is offered for 15 + 0 weeks GA onward. If parents decline prenatal testing, postnatal genetic testing could be offered, using umbilical cord blood or peripheral blood from the infant. If Rapid Aneuploidy Detection (RAD) is normal or a non-invasive prenatal testing (NIPT) has already been performed in first trimester, the parents will be seen by a clinical geneticist for pretest counseling on the available genetic tests. These include copy number variant analysis (CNV) using genomic microarrays and single nucleotide variant analysis through whole exome sequencing (WES) or whole genome sequencing (WGS).30
Recently, Talati et al. published a comprehensive review summarizing genetic considerations in congenital anomalies of the kidney and urinary tract (CAKUT).31 Concerning RAD and CNV analysis, a diagnostic yield up to 25% percent for aneuploidy or chromosomal abnormalities have been reported for CAKUT anomalies.31 For example, first trimester megacystis is strongly associated with aneuploidy, especially trisomy 18, 13, and 21, and very rarely with chromosome abnormalities detectable by CNV.20,32–34 Another common anomaly such as UTD has been associated with trisomy 21, occurring in 11–17% of fetuses with this condition.14,35 In cohorts with CAKUT anomalies, the overall diagnostic yield of WES has been described to be around 16%.36 A more detailed study found the diagnostic yield to be 9.1% for isolated CAKUT and 25% for CAKUT with other abnormalities on fetal ultrasound.37 Cystic kidney diseases, excluding MCDK, are most frequently caused by monogenic diseases, such as ARPKD, Bardet-Biedl syndrome, and Meckel-Gruber syndrome.31 Thus, when cystic kidney disease is detected on ultrasound genetic counseling should be offered. With regard to genital anomalies, the diagnostic yield of prenatal genetic testing has been found to be 24% in our center, including both isolated genital anomalies and those associated with other structural abnormalities.38
In summary, for renal and urogenital anomalies, targeted panel testing or WES should be considered if there are associated anomalies or a relevant family history suggesting a syndromic condition.39,40 Biochemical markers, such as calcium or beta-2-microglobulin, are not routinely used in practice in the prenatal setting in our center.
Integration of prenatal and postnatal careFor the most optimal care for affected fetuses and their parents, integration of prenatal and postnatal care for renal and urogenital malformations in a multidisciplinary approach is key. After a prenatal differential diagnosis is made, in most cases, further tests through genetic testing are offered to evaluate the etiology and prognosis of the anomaly. However, genetic testing is not applied to all urogenital anomalies. For certain malformations that have a low association with genetic abnormalities—such as mild pyelectasis, isolated unilateral renal agenesis, pelvic kidney, or MCDK— prenatal genetic testing is generally not considered necessary. Conversely, when a concurrent chromosomal or genetic disorder is suspected, it has a substantial impact on prognosis and parental decision-making. In these situations, the parents are guided through shared decision-making by both the obstetrician and the clinical geneticist, who can provide comprehensive insights into the expected outcomes. In complex cases, either with a known genetic cause or without, the neonatologist, pediatric urologist, pediatric nephrologist or specialists in Disorders of Sex Development (DSD) become involved in the prenatal counseling process. This provides parents with a more comprehensive understanding of the potential postnatal situations and perinatal management.
The level of care and the location of delivery are determined by the type and severity of the malformation. For relatively minor and isolated malformations, such as unilateral hydronephrosis or simple renal cysts, the fetus can typically be managed through routine prenatal care with counseling provided by a fetal medicine specialist or obstetrician. These cases generally do not require specialized care at birth, so the delivery can often be planned at a secondary care hospital. In such cases, the prognosis is usually favorable, and the malformations either resolve spontaneously or require only minimal intervention postnatally.
In other cases, when renal or urogenital malformations are more complex—such as bilateral malformations, non-isolated anomalies, ambiguous genitals or extremely large MCDKs that could impair respiratory function by compressing structures like the diaphragm—the situation requires a multidisciplinary approach. These complex malformations are associated with a higher risk of perinatal and neonatal complications, including respiratory distress, renal insufficiency and the potential need for surgical intervention shortly after birth. Delivery in a tertiary center is preferred to provide direct specialized neonatal care if needed.
To ensure an optimal transition from prenatal to postnatal life, multidisciplinary collaboration is essential. At our center, weekly meetings involving neonatologists, pediatric urologists, pediatric nephrologists, surgeons and other specialists allow for the development of individualized care plans adapted to each case. This integration of prenatal and postnatal care aims to optimize health outcomes, but it also offers families the support and information needed to navigate the challenges associated with urogenital anomalies. The options will vary across different countries, which also impacts postnatal care.
ConclusionsRenal and urogenital abnormalities are commonly identified prenatally and vary from mild, self-limiting conditions to severe abnormalities that are life-threatening. Dedicated ultrasonographic evaluation in a tertiary care center, followed by multidisciplinary consultations, enables accurate diagnosis and individualized care planning, particularly in complex cases. Collaboration among fetal medicine specialists, obstetricians, neonatologists, pediatric urologists and nephrologists ensures that each case with renal and/or urogenital malformations receives comprehensive evaluation and tailored guidance, facilitating informed decision-making for parents throughout pregnancy and thereafter.
Funding statementNo funding was obtained for this study.
The authors declare no conflicts of interest.













