Prenatal detection of fetal anomalies in pregnancies complicated by insulin-dependent diabetes mellitus

OBJECTIVES: We evaluated the clinical utility of a comprehensive program of prenatal diagnostic testing for congenital anomalies in pregnancies complicated by insulin-dependent diabetes mellitus. STUDY DESIGN: Data were retrospectively analyzed from 289 diabetic women and their newborns from August 1987 to July 1993. Our protocol included initial hemoglobin A(1) and maternal serum alpha-fetoprotein determinations and comprehensive fetal ultrasonography inclusive of a standard four-chamber view of the heart and detailed multiimage fetal echocardiography. RESULTS: Anomalies were identified in 29 of 289 (10%) fetuses and neonates: 12 cardiac only, 14 noncardiac, and 3 combined. In 21 of the 29 (72%) neonates the anomalies were detected prenatally. Twelve of 15 (80%) cardiac and 10 of 17 (59%) noncardiac lesions were identified prenatally. Cardiac lesions, especially of the cardiac septum and great vessels, accounted for 50% of all fetal defects. Malformations of the neuroaxis, skeleton, and genitourinary system were also detected. There were six neonatal deaths and four therapeutic pregnancy terminations associated with congenital anomalies. Although the hemoglobin A(1) level was statistically significantly increased in 22 mothers of anomalous fetuses (p = 0.017), the actual difference between affected and nonaffected pregnancies was not clinically meaningful and much overlap occurred. Although 96% of women with a normal hemoglobin A(1) level were delivered of normal infants, only 14% of those with an elevated value had a malformed fetus. Similarly, although 89% of gravid women with a normal maternal serum alpha-fetoprotein level were delivered of nonaffected fetuses, only 7.3% of patients with an elevated value had a malformed fetus. For the detection of cardiac defects, the sensitivity of the four-chamber view compared with detailed multiimage fetal echocardiography was 33% and 92%, respectively CONCLUSIONS: This study demonstrates the utility of a comprehensive program to detect fetal anomalies in pregnancies complicated by diabetes mellitus.