title: Increased nuchal translucency thickness and risk of neurodevelopmental disorders.
abstract: OBJECTIVE
  To investigate the association between fetal nuchal translucency (NT) thickness and neurodevelopmental disorders in euploid children.
  
  
  METHODS
  This study included 222 505 euploid children who had undergone routine first-trimester screening during fetal life. Children were divided according to prenatal NT into three groups: NT < 95thpercentile (n = 217 103 (97.6%)); NT 95th-99thpercentile (n = 4760 (2.1%)); and NT > 99thpercentile (n = 642 (0.3%)). All children were followed-up to a mean age of 4.4 years. Information on diagnoses of intellectual disability, autism spectrum disorders (ASD), cerebral palsy, epilepsy and febrile seizures was obtained from national patient registries.
  
  
  RESULTS
  There was no excess risk of neurodevelopmental disorders among euploid children with first-trimester NT 95th-99thpercentile. For children with NT > 99thpercentile, there were increased risks of intellectual disability (odds ratio (OR), 6.16 (95% CI, 1.51-25.0), 0.31%) and ASD (OR, 2.48 (95% CI, 1.02-5.99), 0.78%) compared with children with NT < 95thpercentile (incidence of 0.05% for intellectual disability and 0.32% for ASD), however, there was no detected increase in the risk of cerebral palsy (OR, 1.91 (95% CI, 0.61-5.95), 0.47%), epilepsy (OR, 1.51 (95% CI, 0.63-3.66), 0.78%) or febrile seizures (OR, 0.72 (95% CI, 0.44-1.16), 2.65%).
  
  
  CONCLUSIONS
  In a large unselected cohort of euploid children, there was no increased risk of neurodevelopmental disorders among those with a first-trimester NT 95th-99thpercentile. Among euploid children with first-trimester NT > 99thpercentile, there were increased risks of intellectual disability and ASD, but the absolute risk was reassuringly low (< 1%). Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.
authors.affiliation: Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.|Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: S G
authors.initials: SG
authors.lastname: Hellmuth
authors.affiliation: Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.|Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
authors.forename: L H
authors.initials: LH
authors.lastname: Pedersen
authors.affiliation: Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.|Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: C B
authors.initials: CB
authors.lastname: Miltoft
authors.affiliation: Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: O B
authors.initials: OB
authors.lastname: Petersen
authors.affiliation: Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
authors.forename: S
authors.initials: S
authors.lastname: Kjaergaard
authors.affiliation: Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
authors.forename: C
authors.initials: C
authors.lastname: Ekelund
authors.affiliation: Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.|Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
authors.forename: A
authors.initials: A
authors.lastname: Tabor
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D065886:Neurodevelopmental Disorders / Q000453:epidemiology* / Q000235:genetics; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D012042:Registries; D012307:Risk Factors
keywords: increased nuchal translucency; neurodevelopmental disorders; normal karyotype; prenatal screening