PRENATAL SONOGRAPHIC DETECTION OF GENITAL MALFORMATIONS

Postnatal clinical and pathological correlation of sonographically ide ntified genital malformations in 17 fetuses was undertaken to determin e the outcome of these findings. Diagnoses confirmed at autopsy or by postnatal examination and surgery included male (XY) pseudohermaphrodi tism in 2 cases, hypospadias with chordee in 3, microphallus in 2, clo acal anomaly in 2, congenital adrenal hyperplasia in 3, penoscrotal tr ansposition in 2, intra-abdominal testes in 1, megalourethra in 1 and cloacal exstrophy variant in 1. Additional abnormalities included cong enital heart defects, cleft palate, and renal, anorectal, cranial and cerebral malformations. Four fetuses with a sonographically abnormal a ppearing phallus were found to have an endocrine disorder (3 congenita l adrenal hyperplasia and 1 panhypopituitarism). Outcomes included 2 a bortions and 1 neonatal death with the remaining neonates undergoing m edical and reconstructive treatment. Prenatal detection of genital abn ormalities can be helpful in evaluating those fetuses with severe mult i-system anomalies as well as lesions more amenable to correction in t he neonatal period. Detection is particularly important in neonates wi th endocrine disorders, and complex genitourinary and anorectal malfor mations.