Increased nuchal translucency thickness and risk of neurodevelopmental disorders

S G Hellmuth, L H Pedersen, C B Miltoft, O B Petersen, S Kjaergaard, C Ekelund, A Tabor

12 Citations (Scopus)

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 < 95th percentile (n = 217 103 (97.6%)); NT 95th–99th percentile (n = 4760 (2.1%)); and NT > 99th percentile (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–99th percentile. For children with NT > 99th percentile, 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 < 95th percentile (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–99th percentile. Among euploid children with first-trimester NT > 99th percentile, there were increased risks of intellectual disability and ASD, but the absolute risk was reassuringly low (< 1%).

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
Number of pages7
ISSN0960-7692
DOIs
Publication statusPublished - May 2017

Keywords

  • Adult
  • Child, Preschool
  • Chromosome Aberrations
  • Denmark
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Neurodevelopmental Disorders
  • Nuchal Translucency Measurement
  • Pregnancy
  • Pregnancy Outcome
  • Pregnancy Trimester, First
  • Registries
  • Risk Factors
  • Journal Article

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