Prenatal sonographic detection of genital malformations

Postnatal clinical and pathological correlation of sonographically identified genital malformations in 17 fetuses was undertaken to determine the outcome of these findings. Diagnoses confirmed at autopsy or by postnatal examination and surgery included male (XY) pseudohermaphroditism in 2 cases, hypospadias with chordee in 3, microphallus in 2, cloacal anomaly in 2, congenital adrenal hyperplasia in 3, penoscrotal transposition in 2, intra-abdominal testes in 1, megalourethra in 1 and cloacal exstrophy variant in 1. Additional abnormalities included congenital heart defects, cleft palate, and renal, anorectal, cranial and cerebral malformations. Four fetuses with a sonographically abnormal appearing phallus were found to have an endocrine disorder (3 congenital adrenal hyperplasia and 1 panhypopituitarism). Outcomes included 2 abortions and 1 neonatal death with the remaining neonates undergoing medical and reconstructive treatment. Prenatal detection of genital abnormalities can be helpful in evaluating those fetuses with severe multi-system anomalies as well as lesions more amenable to correlation in the neonatal period. Detection is particularly important in neonates with endocrine disorders, and complex genitourinary and anorectal malformations.