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

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Abstract
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 99th percentile.Methods: Singleton fetuses with NT above the 99th 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 99th 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 99th 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. Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.

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