PRENATAL DETECTION OF FETAL ANOMALIES IN PREGNANCIES COMPLICATED BY INSULIN-DEPENDENT DIABETES-MELLITUS

OBJECTIVES: We evaluated the clinical utility of a comprehensive progr am of prenatal diagnostic testing for congenital anomalies in pregnanc ies complicated by insulin-dependent diabetes mellitus. STUDY DESIGN: Data were retrospectively analyzed from 289 diabetic women and their n ewborns from August 1987 to July 1993. Our protocol included initial h emoglobin A(1) and maternal serum alpha-fetoprotein determinations and comprehensive fetal ultrasonography inclusive of a standard four-cham ber view of the heart and detailed multiimage fetal echocardiography. RESULTS: Anomalies were identified in 29 of 289 (10%) fetuses and neon ates: 12 cardiac only, 14 noncardiac, and 3 combined. In 21 of the 29 (72%) neonates the anomalies were detected prenatally. Twelve of 15 (8 0%) cardiac and 10 of 17 (59%) noncardiac lesions were identified pren atally. Cardiac lesions, especially of the cardiac septum and great ve ssels, accounted for 50% of all fetal defects. Malformations of the ne uroaxis, skeleton, and genitourinary system were also detected. There were six neonatal deaths and four therapeutic pregnancy terminations a ssociated with congenital anomalies. Although the hemoglobin A(1) leve l was statistically significantly increased in 22 mothers of anomalous fetuses (p = 0.017), the actual difference between affected and nonaf fected pregnancies was not clinically meaningful and much overlap occu rred. Although 96% of women with a normal hemoglobin A(1) level were d elivered of normal infants, only 14% of those with an elevated value h ad a malformed fetus. Similarly, although 89% of gravid women with a n ormal maternal serum alpha-fetoprotein level were delivered of nonaffe cted fetuses, only 7.3% of patients with an elevated value had a malfo rmed fetus. For the detection of cardiac defects, the sensitivity of t he four-chamber view compared with detailed multiimage fetal echocardi ography was 33% and 92%, respectively CONCLUSIONS: This study demonstr ates the utility of a comprehensive program to detect fetal anomalies in pregnancies complicated by diabetes mellitus.