RESULTS OF CHROMOSOMAL ANALYSIS IN FETUSES WITH CARDIAC ANOMALIES AS DIAGNOSED BY FIRST-2ND-TRIMESTER AND EARLY-2ND-TRIMESTER ECHOCARDIOGRAPHY

Chromosomal analyses were performed in 36 fetuses with cardiac anomali es diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestatio n. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies , including five with Turner's syndrome, seven with trisomy 18, four w ith trisomy 21 and one with triploidy. The commonest cardiac anomaly o bserved in trisomy 21 was a complete atrioventricular canal; in trisom y 18 was ventricular septal defect; in Turner's syndrome was a hypopla stic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, i n fetuses with chromosomal anomalies, there is a high incidence of car diac defects. Furthermore, there is a distinct pattern of cardiac defe cts associated with each chromosomal anomaly.