Using polymerase chain reaction for rapid sex‐determination of a case of sirenomielia

Abstract

A rare case of sirenomelia with its autopsy findings is reported. The 1 I88 g infant was delivered by cesarean section at the 36th week of gestation. and died at 3 h of life. Physical and pathologic findings included sirenomelia ( a single lower extremity mass), lung hypoplasia, bilateral renal agenesis. blind-ending colon, severe deformity of the bony pelvis. an imperforate anus, absence of the bladder, and a single umbilical artery. Because of the difficulty in determing the sex of the infant, PCR directed against the SRY gene was performed. The PCR-based sex determination is a rapid technique in patients with ambiguous genitalia.

My approach to performing a perinatal or neonatal autopsy

“…66 PCR directed against the SRY gene has been used for rapid sex determination in patients with ambiguous genitalia. 67 Karyotyping is best reserved for patients with multiple congenital anomalies. 68 69 The Kleihauer-Betke test for fetomaternal haemorrhage was positive in 8% of a series of 75 unexplained stillbirths, 56 but a series of 745 stillbirths did not find it useful.…”