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Abnormal Pregnancy Sonogram

Selective Indication for Fetal Karyotype

Departments of Obstetrics and Gynecology, Pediatrics, Pathology and Radiology, University Hospitals, Iowa City, Iowa.

The inability to make a definitive diagnosis in the fetus with a sonographically identified abnormality often results in parental and physician uncertainty. An antenatal chromosome evaluation could resolve this uncertainty. Forty-one fetuses with an abnormal ultrasound examination were tested for karyotypic abnormality using a variety of specimens. Nearly one-third (13 of 41) of these featuses had various chromosome abnormalities. There were only seven survivors in this series, underscoring the often poor prognosis when a significant ultrasound defect is detected antenatally. Knowledge of the fetal chromosome constitution in the setting of an abnormal ultrasound has important epidemiologic, cost-benefit, counseling, and pregnancy management implications.