Challenges in prenatal diagnosis of foetal anorectal malformation and hydrocolpos – Case report

INTRODUCTION: and importance: Foetal hydrocolpos and anorectal malformation are difficult to diagnose prenatally due to abundance of differential diagnoses. This case report presents the challenges of diagnosing such disorders. CASE PRESENTATION: A G3P2A0 woman came at 32 weeks of pregnancy with a referral for foetal ovarian cyst. Ultrasound revealed a singleton breech pregnancy, estimated foetal weight 3528 g. A septate abdominal cyst measuring 11.31 × 7.17 cm and polyhydramnios were present. Elective caesarean section delivered a female baby weighing 2820 g and measuring 43 cm. Neonatal examination revealed a right lateral suprapubic mass and a rectovestibular fistula. A sinoscopy revealed a suspected hydrocolpos. An abdominal hydrocolpos drainage was performed; a patent urachus and normal bilateral adnexa were present. CLINICAL DISCUSSION: Hydrocolpos is a rare congenital disorder due to distal obstruction of various etiologies. It may be mistaken with other pathologies, including fetal ovarian cysts. A genitourinary congenital abnormality may occur in conjunction with other abnormalities, including gastrointestinal tract anomalies. The presence of imperforate anus and/or fistula should alert the clinician of a possible association with VACTERL syndrome. CONCLUSION: Hydrocolpos is a rare congenital genitourinary disorder with various differential diagnoses. Simultaneous presence of other abnormalities is likely, with possible association to other syndromes.