title: Risk of selected structural abnormalities in infants after increased nuchal translucency measurement.
abstract: OBJECTIVE
  We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural birth defects in euploid infants.
  
  
  METHODS
  Included were 75,899 singleton infants without aneuploidy or critical congenital heart defects born in California in 2009 through 2010 with NT measured between 11-14 weeks of gestation. Logistic binomial regression was employed to estimate relative risks (RRs) and 95% confidence intervals (CIs) for occurrence of birth defects in infants with an increased NT measurement (by percentile at crown-rump length [CRL] and by ≥3.5 mm compared to those with measurements <90th percentile for CRL).
  
  
  RESULTS
  When considered by CRL adjusted percentile and by measurement ≥3.5 mm, infants with a NT ≥95th percentile were at risk of having ≥1 major structural birth defects (any defect, RR, 1.6; 95% CI, 1.3-1.9; multiple defects, RR, 2.1; 95% CI, 1.3-3.4). Infants with a NT measurement ≥95th percentile were at particularly high risk for pulmonary, gastrointestinal, genitourinary, and musculoskeletal anomalies (RR, 1.6-2.7; 95% CI, 1.1-5.4).
  
  
  CONCLUSIONS
  Our findings demonstrate that risks of major pulmonary, gastrointestinal, genitourinary, and musculoskeletal structural birth defects exist for NT measurements ≥95th percentile. The ≥3-fold risks were observed for congenital hydrocephalus; agenesis, hypoplasia, and dysplasia of the lung; atresia and stenosis of the small intestine; osteodystrophies; and diaphragm anomalies.
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, CA. Electronic address: Rebecca.Baer@cdph.ca.gov.
authors.forename: Rebecca J
authors.initials: RJ
authors.lastname: Baer
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, School of Medicine, San Francisco, CA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Norton
authors.affiliation: Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
authors.forename: Gary M
authors.initials: GM
authors.lastname: Shaw
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
authors.forename: Monica C
authors.initials: MC
authors.lastname: Flessel
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
authors.forename: Sara
authors.initials: S
authors.lastname: Goldman
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, CA.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Currier
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, CA; Department of Epidemiology and Biostatistics, University of California, San Francisco, School of Medicine, San Francisco, CA.
authors.forename: Laura L
authors.initials: LL
authors.lastname: Jelliffe-Pawlowski
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000453:epidemiology*; D000293:Adolescent; D000328:Adult; D001851:Bone Diseases, Metabolic / Q000151:congenital / Q000000981:diagnostic imaging / Q000453:epidemiology; D015331:Cohort Studies; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000453:epidemiology*; D003964:Diaphragm / Q000002:abnormalities; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000453:epidemiology; D007409:Intestinal Atresia / Q000000981:diagnostic imaging / Q000453:epidemiology; D007421:Intestine, Small / Q000002:abnormalities / Q000000981:diagnostic imaging; D016015:Logistic Models; D008168:Lung / Q000002:abnormalities / Q000000981:diagnostic imaging; D008171:Lung Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging / Q000453:epidemiology; D009421:Nervous System Malformations / Q000000981:diagnostic imaging / Q000453:epidemiology; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D012306:Risk; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging / Q000453:epidemiology; D055815:Young Adult
keywords: congenital birth defects; increased nuchal translucency; normal karyotype; prenatal screening