Prenatal sonographic diagnosis of urorectal septum malformation sequence in one of twins: a case report / 中华围产医学杂志

ABSTRACT

Urorectal septum malformation sequence (URSMS) is a rare congenital complex malformation characterized by severe abnormalities in the urinary, reproductive and digestive systems. It is difficult to diagnose URSMS by prenatal ultrasound due to its complex and variable manifestations. This paper reported a twin with partial URSMS. Prenatal ultrasound findings included pelvic "trilobe" cystic masses, sacrococcygeal hemivertebral malformations, imperforate anus, and transient ascites. Postnatal examination confirmed the diagnosis of URSMS, as the baby girl was born with anal atresia. Her colon, urethra, and vagina converged and formed a common tract with a single perineal opening. The baby died after her parents' refusal to surgical treatment.