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.

Increased nuchal translucency and normal karyotype: perinatal and pediatric outcomes at 2 years of age.

OBJECTIVE: To assess the perinatal and pediatric outcomes up to 2 years of age in singleton karyotypically normal fetuses with increased nuchal translucency (NT) above the 99(th) percentile. METHODS: Singleton fetuses with NT above the 99(th) percentile and normal karyotype scanned in our center from 2002 to 2006 were included. Work-up included first- and second-trimester anomaly scan, first- and second-trimester fetal echocardiography, and in selected cases infection screening and genetic testing. Among survivors, a pediatric follow-up up to 2 years of age was undertaken. RESULTS: During this 4-year period, 171 singleton fetuses with NT above the 99(th) percentile and normal karyotype were included in the study. There were seven spontaneous fetal losses, 38 terminations of pregnancy and two postnatal deaths. Among the 124 (72.5%) survivors, 12 (9.7%) were born with structural abnormalities. Neurodevelopmental follow-up was completed in 108 (87.1%) of the 124 survivors and four (3.7%) showed moderate to severe impairment. Overall, a structural abnormality or genetic syndrome was diagnosed in 50 fetuses/newborns. Prenatal diagnosis was achieved for 83.8% (31/37) of the structural abnormalities and 69.2% (9/13) of the genetic syndromes. Interestingly, a single umbilical artery was found in six fetuses with no structural defects at birth, five of which had a long-term favorable outcome (4.5%), and in one 22q11 microdeletion syndrome was diagnosed at 2 years of age. CONCLUSION: Singleton fetuses with an increased NT above the 99(th) percentile and normal karyotype showed a 63% intact survival. Long-term neurodevelopmental outcome among survivors did not appear to differ from that reported for the general population.