Follow-up of increased nuchal translucency: Results of a study of 398 cases.

ABSTRACT

INTRODUCTION: Increased fetal nuchal translucency is associated with chromosomal as well as morphological abnormalities. The psychomotor development of children from these pregnancies is still unclear. The main objective of our study was to evaluate pregnancy outcomes and the post-natal progress of fetuses with increased nuchal translucency. We also compared the features of patients and fetuses according to their nuchal translucency measurement (above 3.5 mm or not). METHODS: Retrospective single-center study in 398 patients in a level 3 maternity unit in France. Mothers whose fetus had a nuchal translucency higher than the 95 th percentile between 2009 and 2018 were included. All patients who had a child with a normal karyotype were prospectively given a questionnaire to evaluate their child's psychomotor development. RESULTS: 37.4% (130/348) of fetuses had a chromosomal abnormality and 2.3% (5/218) had a normal karyotype but a pathogenic copy number variant diagnosed by array- CGH. 28.7% (77/268) of fetus without diagnosed chromosomal abnormalities, presented a morphological abnormality with predominant cardiac malformations. Fetuses with a nuchal translucency ≥ 3.5 mm, had more chromosomal abnormalities (p<0.0001) and were at higher risk of hypotrophy (p=0.005) and birth by cesarean (p=0.04). Among the liveborn children, 70% (166/238) were healthy without morphological or chromosomal abnormalities. Lastly, 17% (17/102) of these children had psychomotor disorder. CONCLUSION: According to our results, parents should be warned of the increased risk of hypotrophy and delivery by cesarean section for fetuses with a nuchal translucency ≥ 3.5 mm. We recommend prolonged specialized pediatric follow-up for children who have been carriers of increased nuchal translucency.