Fetal genital anomalies: an aid to diagnosis

OBJECTIVE: To report our experience with the prenatal diagnosis of fetal genital anomalies and suggest a protocol for management. METHODS: A retrospective review of all the cases with fetal genital anomalies or phenotype and genotype discrepancy identified by prenatal ultrasound. RESULTS: Twenty cases with abnormal fetal genitalia and four with a phenotype and genotype discrepancy were diagnosed prenatally. Genital anomalies were rarely found in isolation, most were found in combination with renal or multiple structural anomalies. The etiology of abnormal genitalia was broad and included metabolic, chromosomal and genetic syndromes. CONCLUSION: Prenatal detection of genital anomalies should stimulate a detailed ultrasound examination and determination of genotypic sex. Measurement of 17-OHP and Delta(4)-androstenedione or metabolites of the cholesterol pathway in the amniotic fluid and/or maternal urine may be helpful in making a definitive diagnosis. Identification of genital anomalies in fetuses with renal or multiple abnormalities can aid prenatal diagnosis, thereby facilitating accurate counseling of parents who are then in a better position to make informed choices.