Abstract
Objective : Congenital cardiac outflow defects (COD) are the largest group of congenital heart defects, with ventricular septal defect (VSD) as the most prevalent phenotype. Increased maternal age, excessive oxidative stress and inflammation are involved in the pathophysiology and enhance telomere length (TL) shortening. We aim to study the association between periconception maternal TL, as future predictive biomarker, and the risk of having a child with COD.Design : HAVEN-study, a multicenter case-control triad study conducted in the Netherlands.Setting and population306 case mothers of a child with COD and 424 control mothers of a child without a congenital malformation were selected.
MethodsTL was estimated, on DNA from venous blood samples, by qPCR. Multivariable logistic regression was used to compute crude and adjusted odds ratios (OR) per standard deviation (SD) decrease between maternal T/S ratio and COD and VSD risk.