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Increased nuchal translucency thickness and the risk of neurodevelopmental disorders

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OBJECTIVE: To investigate the association between fetal nuchal translucency thickness (NT) and neurodevelopmental disorders in euploid children.

METHOD: This study included 222,505 euploid children, with a routine first trimester screening. They were divided into three groups by NT thickness: NT <95(th) percentile, 217,103 (97.6%), NT 95(th) -99(th) percentile, 4,760 (2.1%), and NT >99(th) percentile 642 (0.3%). All children were followed-up through national patient registries at a mean age of 4.4 years. We obtained information on diagnoses of mental retardation, autism spectrum disorders (ASDs), cerebral palsy, epilepsy and febrile seizures.

RESULTS: There was no excess risk of neurodevelopmental disorders among euploid children with a NT between 95(th) and 99(th) percentile. For children with a NT >99(th) percentile, there were increased risks of mental retardation (OR=6.16, 95% confidence interval (CI): 1.51-25.0, 2 cases) and ASDs (OR=2.48, 95%CI: 1.02-5.99, 5 cases) compared to children with a NT<95(th) percentile (110 and 686 cases of mental retardation and ASDs, respectively). There was no detected increased risk of cerebral palsy (OR= 1.91, 95%CI: 0.61-5.95, 3 cases), epilepsy (OR= 1.51, 95%CI: 0.63-3.66, 5 cases) or febrile seizures (OR=0.72, 95%CI: 0.44-1.16, 17 cases) among children with a NT >99(th) percentile.

CONCLUSION: In a large unselected cohort, euploid fetuses with a NT 95(th) -99(th) percentile had no increased risk of neurodevelopmental disorders. Among euploid fetuses with a NT >99(th) percentile there was an increased risk of mental retardation and ASDs but the absolute risk was low (<1%) and thus reassuring.

Original languageEnglish
JournalUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Volume49
Issue number5
Pages (from-to)592-598
ISSN0960-7692
DOIs
Publication statusPublished - 2017

ID: 49819733