Abstract
Cloacal dysgenesis sequence (CDS) is a lethal and rare congenital malformation; usually requiring termination of gestation. As prenatal ultrasonography remains a method with doubtable results, we used Fetal Magnetic Resonance Urography (FMRU) for the evaluation of a fetus at 18 weeks of gestation, suspected to cloacal anomalies. Prenatal imaging of the patient; showed smooth perineum, bilateral hypoplastic kidneys, dilated urinary bladder and absence of anal, urethral and vaginal openings; while prenatal sonographic investigation merely showed a mesenteric cyst. Gestation was culminated and no vesicocolon fistula was detected in the abortus. In the current study, FMRU provided larger number of anomalies and showed to be more sensitive in evaluation of urogenital anatomy compared to the results obtained from sonography.
Highlights
Cloacal dysgenesis sequence (CDS) is an infrequent but distinctive malformation with a wide spectrum of clinical manifestations, which occurs in about 1 out of 50,000 liveborn infants (Warne, Chitty & Wilcox 2002) that results in termination of pregnancy in most of the cases (Sahinoglu et al 2004)
As prenatal ultrasonography remains a method with doubtable results, we used Fetal Magnetic Resonance Urography (FMRU) for the evaluation of a fetus at 18 weeks of gestation, suspected to cloacal anomalies
It was considered that CDS occurred only in females; but it has been recognized that male fetuses can be affected by this abnormality (Pauli 1994)
Summary
Cloacal dysgenesis sequence (CDS) is an infrequent but distinctive malformation with a wide spectrum of clinical manifestations, which occurs in about 1 out of 50,000 liveborn infants (Warne, Chitty & Wilcox 2002) that results in termination of pregnancy in most of the cases (Sahinoglu et al 2004). CDS will occur (Achiron et al 2000) This defect is characterized by the absence of anal, urethral and vaginal openings with flat perineal surface and a phallus-like structure which is usually accompanied with numerous anomalies such as malformed kidneys, urinary tract obstruction, oligohydramnios, urethral atresia or agenesis, pulmonary hypoplasia, renal agenesis and bladder aplasia (Pauli 1994). It can induce different anomalies such as pulmonary hypoplasia, thoracic compression, enterolithiasis, vertebral, cardiac and gastrointestinal defects. This case presentation shows a prenatally diagnosed fetus with CDS confirmed with detailed FMRU
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