title: Long-term outcome in apparently healthy children with increased nuchal translucency in the first trimester screening.
abstract: BACKGROUND
  Increased nuchal translucency is known to be associated with chromosomal and structural defects and genetic syndromes. Little is known about the overall long-term outcome of euploid children after increased nuchal translucency. The aims of this study were to assess the additional structural defects diagnosed after discharge from the delivery hospital and the long-term overall outcome of euploid children after increased nuchal translucency and normal second trimester anomaly scan.
  
  
  METHODS
  All children from singleton euploid pregnancies during 2002-2007 with increased nuchal translucency in the first trimester screening, normal second trimester anomaly scan, and discharged as apparently healthy were included. Data on the structural defects and genetic disorders diagnosed until 2012 were retrieved from hospital databases and national registers. Previously published data of structural defects diagnosed after birth but before discharge and of severe neurodevelopmental impairment and genetic syndromes was added.
  
  
  RESULTS
  The cohort included 733 children. During the follow-up time (mean 6.5 years), major structural defects were observed in 10 (1.4%), genetic disorders in two (0.3%), and minor defects in 23 (3.1%) children. In addition, there were 42 previously published major structural defects and major neurodevelopmental impairment or genetic disorders. Adding these results together, major health problems were detected in 54 (7%) euploid children with increased fetal nuchal translucency and normal findings in second trimester anomaly scan.
  
  
  CONCLUSIONS
  Although only few additional major structural defects are diagnosed during the follow-up after increased fetal nuchal translucency, 7% of fetuses assumed to be healthy after second trimester anomaly scan have a major health impairment.
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
authors.forename: Outi
authors.initials: O
authors.lastname: Äyräs
authors.affiliation: Health Department, Social Insurance Institution of Finland, Helsinki, Finland.
authors.forename: Marianne
authors.identifier: http://orcid.org/0000-0001-8040-6737
authors.initials: M
authors.lastname: Eronen
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
authors.forename: Minna
authors.identifier: http://orcid.org/0000-0001-5493-8588
authors.initials: M
authors.lastname: Tikkanen
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
authors.forename: Päivi
authors.identifier: http://orcid.org/0000-0001-7512-4823
authors.initials: P
authors.lastname: Rahkola-Soisalo
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
authors.forename: Jorma
authors.identifier: http://orcid.org/0000-0003-4775-606X
authors.initials: J
authors.lastname: Paavonen
authors.affiliation: Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki Finland, Helsinki, Finland.
authors.forename: Vedran
authors.identifier: http://orcid.org/0000-0001-5230-1698
authors.initials: V
authors.lastname: Stefanovic
mesh_terms: D000328:Adult; D002648:Child; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology; D005260:Female; D005387:Finland / Q000453:epidemiology; D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods / Q000706:statistics & numerical data; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011379:Prognosis
keywords: Nuchal translucency; euploid; long-term outcome; parental counseling; structural defect