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Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
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Periconceptional parental conditions and perimembranous ventricular septal defects in the offspring

Kim P J Wijnands1, Gerda A Zeilmaker, Willemijn M Meijer

  • 1Department of Obstetrics and Gynecology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

Birth Defects Research. Part A, Clinical and Molecular Teratology
|September 9, 2014
PubMed

Insights

Perimembranous ventricular septal defects (pVSD) are linked to four parental conditions before conception. Maternal factors include family history of heart disease, medication use, and advanced age. Paternal exposure to phthalates also increases pVSD risk.

Area of Science:

  • Cardiology
  • Pediatrics
  • Public Health

Background:

  • Perimembranous ventricular septal (pVSD) defects represent the most frequent congenital heart disease phenotype.
  • Several parental factors have been identified as potential contributors to pVSD risk in offspring.
  • Understanding nongenetic parental conditions is crucial for developing preventive strategies.

Purpose of the Study:

  • To investigate the associations between nongenetic parental conditions and the risk of perimembranous ventricular septal defects (pVSD) in offspring.
  • To identify specific modifiable risk factors for pVSD that can be addressed through preconception counseling.
  • To contribute to the primary prevention of congenital heart disease.

Main Methods:

  • A case-control study involving 115 parents of children with pVSD and 484 parents of healthy children.
  • Standardized data collection occurred 17 months post-birth, utilizing questionnaires on periconceptional nongenetic conditions.
  • Univariable and multivariable logistic regression analyses were employed to calculate odds ratios (OR) and 95% confidence intervals (95% CI).

Main Results:

  • Maternal risk factors associated with pVSD offspring included a positive family history of congenital heart disease (OR, 2.61), medication use (OR, 1.80), and advanced maternal age (OR, 1.07).
  • Paternal exposure to phthalates was identified as a significant risk factor (OR, 1.93).
  • Complete data were obtained from 588 families, representing a 98% participation rate.

Conclusions:

  • Four periconceptional parental conditions were found to significantly contribute to the risk of pVSD in offspring.
  • Couples planning pregnancy should receive counseling regarding these identified risk factors.
  • These risk conditions are partially modifiable, offering potential avenues for the primary prevention of pVSDs.
Abstract

Keywords:
case-control studycongenital heart diseasematernal and paternal risk factorsperimembranous ventricular septal defectpreconception care

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