title: Is an isolated ventricular septal defect detected before 24 weeks on ultrasound associated with fetal aneuploidy?
abstract: OBJECTIVE
  Whether the isolated VSD (i-VSD) is associated with aneuploidy to the same degree as a more severe heart anomaly is unclear. Our objective was to determine the likelihood of aneuploidy in pregnancies at a tertiary referral center when an i-VSD is detected before 24 weeks.
  
  
  METHODS
  A retrospective chart review of all detailed anatomy ultrasounds before 24 weeks performed at the University of Kansas Medical Center from 08/23/2006 to 06/07/2012 was conducted. A complete evaluation of the fetal heart was accomplished using gray scale and spectral/color Doppler examinations. The outcomes of each pregnancy were reviewed for any diagnoses of aneuploidy. Odds ratios were calculated.
  
  
  RESULTS
  A total of 4078 pregnancies with complete obstetric and neonatal data were reviewed. The prevalence of an i-VSD was 2.7% (112/4078). The odds ratio of aneuploidy when an i-VSD was present was (OR: 36.0, 95% CI: 5.0, 258.1). This odds ratio remained large when either an abnormal or unknown serum screen was present.
  
  
  CONCLUSIONS
  The presence of an i-VSD present before 24 weeks does increase the risk of fetal aneuploidy. Whether a normal serum screen or first trimester screen for aneuploidy negates the association of an i-VSD with aneuploidy still remains undetermined.
authors.affiliation: a Department of Obstetrics and Gynecology , University of Kansas School of Medicine , Kansas City , MO , USA.
authors.forename: Gene
authors.initials: G
authors.lastname: Lee
authors.affiliation: a Department of Obstetrics and Gynecology , University of Kansas School of Medicine , Kansas City , MO , USA.
authors.forename: Susie X
authors.initials: SX
authors.lastname: Fong
authors.affiliation: a Department of Obstetrics and Gynecology , University of Kansas School of Medicine , Kansas City , MO , USA.
authors.forename: Maitreyi
authors.initials: M
authors.lastname: Salpekar
authors.affiliation: a Department of Obstetrics and Gynecology , University of Kansas School of Medicine , Kansas City , MO , USA.
authors.forename: Catherine L
authors.initials: CL
authors.lastname: Satterwhite
authors.affiliation: a Department of Obstetrics and Gynecology , University of Kansas School of Medicine , Kansas City , MO , USA.
authors.forename: Carl
authors.initials: C
authors.lastname: Weiner
mesh_terms: D000328:Adult; D000782:Aneuploidy; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000000981:diagnostic imaging* / Q000453:epidemiology; D006801:Humans; D007615:Kansas / Q000453:epidemiology; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000706:statistics & numerical data*; D055815:Young Adult
keywords: Aneuploidy; genetic sonogram; isolated VSD