title: Second trimester serum predictors of congenital heart defects in pregnancies without chromosomal or neural tube defects.
abstract: OBJECTIVE
  To compare euploid pregnancies with congenital heart defects (CHDs) to similar pregnancies without CHDs on typically collected second trimester biomarker measurements.
  
  
  METHODS
  Second trimester serum levels of alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol were compared for 306 CHD cases and 1224 no-CHD controls drawn from a sample of singleton pregnancies without chromosomal or neural tube defects (NTDs). Logistic regression models were built comparing biomarkers for cases and controls.
  
  
  RESULTS
  Regardless of the severity of defect, CHD cases were more likely to have unusually high AFP and/or hCG levels and/or unusually low hCG and/or uE3 levels [odds ratio (OR) 1.8-2.4, 95% confidence intervals (CIs) 1.2-4.0]. Cases with critical CHDs were more than twice as likely to have an AFP multiple of the median (MoM) ≥ the 95th percentile and/or an hCG and/uE3 MoM ≤ the 5th percentile (OR 2.1-3.9, 95% CIs 1.1-7.8).
  
  
  CONCLUSIONS
  Abnormal levels of specific second trimester maternal serum biomarkers indicated an increased risk for CHDs among this sample of low risk pregnancies. Our data suggest that future efforts aimed at improving CHD detection in low risk pregnancies may benefit from considering serum biomarkers.
authors.affiliation: California Department of Public Health, Genetic Disease Screening Program, Richmond, CA, USA. Laura.Jelliffe@cdph.ca.gov
authors.forename: Laura
authors.initials: L
authors.lastname: Jelliffe-Pawlowski
authors.forename: Rebecca
authors.initials: R
authors.lastname: Baer
authors.forename: Anita J
authors.initials: AJ
authors.lastname: Moon-Grady
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Currier
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D006063:Chorionic Gonadotropin / Q000097:blood; D002869:Chromosome Aberrations; D004964:Estriol / Q000097:blood; D005260:Female; D006330:Heart Defects, Congenital / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D009436:Neural Tube Defects / Q000097:blood / Q000175:diagnosis*; D011237:Predictive Value of Tests; D011247:Pregnancy; D011262:Pregnancy Trimester, Second / Q000097:blood*; D011296:Prenatal Diagnosis / Q000379:methods*; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: C097353:AFP protein, human; D015415:Biomarkers; D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins; D004964:Estriol