Fetal nuchal translucency and normal chromosomes: a long-term follow-up study

Objective To assess the impact of increased nuchal translucency observed du ring early pregnancy on the subsequent health of children with normal chrom osomes, with special attention to cardiac anatomy and function. Methods Clinical examination and detailed cardiac evaluation were carried o ut in 50 chromosomally normal children at the age of 2.4-7.1 years who had had a nuchal translucency measurement of greater than or equal to 3 mm at 1 3-15 weeks' gestation. The data of two babies who died of heart defects wer e also included. Results Major cardiac defects were identified in four (8%) of the children. The growth of all children was within normal limits. One child had Noonan syndrome, one had a cleidocranial dysplasia and a third had a developmental delay together with an unrecognized syndrome. Webs in the neck region were noticed in two children, with no associated pathology. Conclusions In chromosomally normal fetuses with increased nuchal transluce ncy, fetal echocardiography is necessary to identify major cardiac defects. In general, the parents can be reassured that, in the great majority, post natal development is normal.