Prenatally detectable congenital heart defects in fetuses with Down syndrome




To document the incidence of congenital heart defects (CHD) that are detectable echocardiographically in the fetus with trisomy 21 and the relationship with nuchal translucency, fetal sex and ethnicity.


Data on fetuses with a karyotypic diagnosis of trisomy 21 were collected between January 2002 and March 2010. The data were analyzed for the gestational age at examination, maternal age, reason for referral for fetal echocardiography, cardiac diagnosis, fetal sex, ethnicity and outcome.


Of 917 fetuses with trisomy 21, 487 had a diagnostic echocardiogram. Cardiac examination was performed before 14 weeks' gestation in 75% of cases. The main reasons for referral were increased nuchal translucency (NT) in 76% of cases, suspected cardiac abnormality in 15% and an extracardiac anomaly in 6%. Structural CHD was found in 164/487 (34%), or 98/412 (24%) if those referred for suspected CHD are removed from the analysis. The most common diagnosis was atrioventricular septal defect (AVSD) (115/487, 24%). The ratio of female to male fetuses with AVSD was 29%:18% (P = 0.003). There was no difference in the incidence of AVSD with ethnicity. The pregnancy continued in 36 cases, but three were lost to follow-up; of the known outcomes there were 10 intrauterine deaths, six of which had structural heart disease, and 23 live births, 15 of which had CHD.


Most fetuses (66–76%) with trisomy 21 have a structurally normal heart on echocardiography. The presence of structural CHD was not associated with increased NT. The increased incidence of AVSD in females was confirmed in our study, although an ethnic difference could not be confirmed. CHD does not appear to increase the chance of spontaneous intrauterine loss in ongoing pregnancies. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.