• Sylvia A Obermann-Borst, Aaron Isaacs, Zobia Younes, Ron H N van Schaik, Ilse P van der Heiden, Cornelia M van Duyn, Eric A P Steegers, and Régine P M Steegers-Theunissen.
• Division of Obstetrics and Prenatal Medicine, Department of Obstetrics and Gynecology, Erasmus Medical Center, University Medical Center, Rotterdam, The Netherlands.
• Am. J. Obstet. Gynecol. 2011 Mar 1; 204 (3): 236.e1-8.

ObjectiveWe sought to investigate maternal and child functional MDR1 C3435T polymorphism, periconception medication, folic acid use, and the risk of a congenital heart defect (CHD) in the offspring.Study DesignMDR1 3435C>T genotyping was performed in 283 case triads (mother, father, child) and 308 control triads. Information on periconception medication and folic acid use was obtained through questionnaires.ResultsMothers with MDR1 3435CT/TT genotype and using medication showed a significant association with the risk of a child with CHD (odds ratio [OR], 2.4; 95% confidence interval [CI], 1.3-4.3) compared to mothers with MDR1 3435CC genotype not using medication. This risk increased without folic acid use (OR, 2.8; 95% CI, 1.2-6.4), and decreased in folic acid users (OR, 1.7; 95% CI, 0.8-3.7). Children carrying the MDR1 3435CT/TT genotype and periconceptionally exposed to medication without folic acid did not show significant risks.ConclusionMothers carrying the MDR1 3435T allele, using medication without folic acid, are at nearly 3-fold increased risk for CHD in the offspring.Copyright © 2011 Mosby, Inc. All rights reserved.

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