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Prenatal diagnosis of cloacal anomalies
S Warne1, L S Chitty, D T Wilcox
1Department of Paediatric Urology, Guy's Hospital & Great Ormond Street Children's Hospital, London, UK. warnes@gosh.nhs.uk
Insights
Prenatal diagnosis of persistent cloaca in female fetuses is possible. Early detection enables crucial parental counseling and specialized perinatal care planning for this complex condition.
Area of Science:
- Fetal Medicine
- Pediatric Surgery
- Medical Imaging
Background:
- Persistent cloaca is a complex congenital malformation requiring specialized surgical reconstruction.
- Prenatal diagnosis is crucial for effective management and parental counseling.
Observation:
- Six cases of suspected prenatal cloacal anomaly were reviewed.
- Serial prenatal ultrasonography, fetoscopy, and MRI aided diagnosis.
- Key ultrasound findings included pelvic cystic structures, bilateral hydronephrosis, and poorly visualized bladders.
Findings:
- Prenatal diagnosis of cloacal anomalies was achieved between 19-33 weeks gestation.
- Associated anomalies included transient ascites, oligohydramnios, ambiguous genitalia, and growth retardation.
- Female karyotype was confirmed in all cases.
Implications:
- Prenatal diagnosis of cloacal anomalies facilitates timely parental counseling.
- Planning delivery at specialized centers improves outcomes for neonates requiring intensive care and surgery.
- Early identification supports optimal perinatal care strategies for persistent cloaca.
Objective:
To evaluate prenatal diagnosis in facilitating prenatal counselling and planning optimal perinatal care for persistent cloaca, a complex malformation with variable presentation and a difficult reconstructive challenge for the paediatric urologist and surgeon.
Patients And Methods:
The prenatal records of six patients with a suspected prenatal diagnosis of cloacal anomaly, subsequently confirmed on delivery, were reviewed. All had serial prenatal ultrasonograms. Fetal medicine and paediatric surgical specialists were present for the scans and counselled the parents jointly.
Results:
The diagnosis was made at 19-33 weeks of gestation; all fetuses had a cystic structure arising from the pelvis and bilateral hydronephrosis, with a poorly visualized fetal bladder in most. Other prenatal features included transient fetal ascites, oligohydramnios, ambiguous genitalia and growth retardation. Female karyotype was confirmed in all cases by amniocentesis. Diagnosis was aided in two patients by fetoscopy and in another by magnetic resonance imaging.
Conclusions:
Cloacal anomalies can be diagnosed prenatally and should be considered in any female fetus presenting with bilateral hydronephrosis, a poorly visualized bladder and a cystic lesion arising from the pelvis. Prenatal diagnosis allows time for parental counselling and planning of the delivery at a centre equipped with neonatal intensive-care and paediatric surgical facilities.