Shorter Periconception Maternal Telomere Length and the Risk of
Congenital Cardiac Outflow Defects in the Offspring: a case control
study
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 population: 306 case mothers of a child with COD and 424
control mothers of a child without a congenital malformation were
selected. Methods: TL 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. Main outcome measures: The risk
of COD in offspring. Results: A significant association was shown
between maternal TL shortening (per standard deviation) and a 29%
increased risk of VSD in offspring (OR 1.29(95% CI 1.04-1.61), P=
0,02), which remained significant after additional adjustment for
maternal age (adjOR 1.25(95% CI 1.01-1.55), P= 0,04). No association
between maternal TL and the risk of overall COD in offspring was
observed. Conclusion: Shortening of maternal TL, due to maternal
conditions including age, is associated with an approximately 1.3-fold
increased risk, per SD in TL-shortening, of VSD in the offspring. These
findings need further confirmation in other studies on the predictive
value of maternal TL.