Does abnormal nuchal translucency always indicate an abnormal child?

In cases of abnormal first trimester nuchal translucency with normal karyotype and normal second trimester ultrasound, the risks of adverse neonatal outcome and developmental delay in childhood are not increased. Parents can be reassured in this situation. (LOE = 2c)

Senat MV, Bussieres L, Couderc S, et al. Long-term outcome of children born after a first-trimester measurement of nuchal tanslucency at the 99th percentil or greater with normal karyotype: A prospective study. Am J Obstet Gynecol 2007;196:53e1-53e6.  [PMID:17240232]

Case-control

Unknown/not stated

Outpatient (any)

Increased nuchal translucency thickness in the first trimester has been associated with aneuploidy, and measurements above the 95th percentile has been associated with other congenital defects, principally cardiac defects. This French study included 162 cases of children with history of nuchal translucency above the 99th percentile, normal karyotype, and normal anatomy by ultrasound at 22 to 24 weeks' gestation. Children were examined within 2 days after birth, at 1,4, and 9 months, and at 2 years of age. The parents also completed the Ages and Stages Questionnaire at every examination starting with the 4-month visit to detect early signs of developmental delay. Cases were compared with a control group of 370 term French children from a population-based cohort study. There were no differences between groups for congenital defects or developmental delay.