Doppler assessment of cardiac function at 11-14 weeks' gestation in fetuses with normal and increased nuchal translucency

Objective To investigate cardiac dysfunction as a potential underlying mechanism for increased nuchal translucency (NT) in fetuses with chromosomal abnormality or heart defects. Methods Myocardial performance index (MPI) and atrioventricular valve E/A ratios for both sides of the heart were measured by Doppler ecbocardiograpby in fetuses at 11-14 weeks' gestation. The study groups consisted of 159 normal control fetuses, 199 otherwise normal fetuses but with increased NT greater than or equal to 4 mm, 142 fetuses with trisomy 21, 58 with trisomy 18, 19 with trisomy 13, 37 with Turner's syndrome and 24 with isolated heart defects. Groups were compared using Student's t-test and confidence intervals for differences between groups were calculated. Results Otherwise normal fetuses with increased NT showed no difference in any of the cardiac Doppler parameters from normal controls. Mean E/A ratio was slightly but significantly increased in trisomy 21 fetuses compared with normal controls (0.604 vs. 0.578 on the right, P = 0.011; 0.581 vs. 0.542 on the left, P = 0.0001). E/A ratio was not significantly different between any of the other groups and the normals but there was a small increase in absolute E-wave velocity in trisomy 18 fetuses. MPI was significantly decreased in trisomy 21 fetuses, (0.330 vs. 0.378, P = 0.002 on the left) and also in Turner's syndrome fetuses (0.301 vs. 0.352 on the right, P = 0.04; 0.320 vs. 0.378 on the left, P = 0.034) implying better performance, but not in the other groups. Conclusions The magnitude and/or direction of the differences shown do not support a major role for cardiac functional abnormality in the development of NT. Important cardiac dysfunction could not be demonstrated in association with increased NT in normal or abnormal fetuses. Copyright (C) 2004 ISUOG. Published by John Wiley Sons, Ltd.