Further insights into diastolic dysfunction in first-trimester trisomy-21 fetuses

Objective To assess fetal cardiac function in first-trimester trisomy-21 fetuses as compared with fetuses with other aneuploidies, euploid fetuses with cardiac defects or isolated increased nuchal translucency (NT) and controls. Methods During a 2.5-year period, NT, ductus venosus (DV) blood flow, diastolic filling time, early filling time, tricuspid flow, tricuspid and mitral valve E/A velocity ratios, left ventricle shortening fraction, left myocardial performance index and fetal heart rate were assessed in fetuses with a crown–rump length between 45 and 84 mm undergoing chorionic villus sampling at our center. Cardiac parameters among study groups were compared with the use of 95% CIs. Results The study population comprised 28 fetuses with trisomy 21, 25 with other aneuploidies, 94 euploid fetuses with abnormal findings (27 with cardiac defects, 31 with other structural anomalies and 36 with isolated increased NT) and 271 controls. Trisomy-21 fetuses showed signs of diastolic dysfunction such as increased DV pulsatility index and E/A ratios together with a higher prevalence of tricuspid regurgitation. However, no differences were found in euploid fetuses with cardiac defects or isolated increased NT. Conclusions No signs of cardiac dysfunction were observed in euploid fetuses with increased NT or cardiac defects, while in trisomy-21 fetuses signs of diastolic dysfunction could be potentially attributed to volume overload. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.