Paternal age and risk for selected birth defects in a large South American sample

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Abstract

Background: The relationship between maternal age (MA) and birth defects (BD) has been extensively studied while much less research, mostly with discordant results, has focused on the risk of paternal age (PA) for BD. Furthermore, no consensus has been reached on the best way to control the association of PA with MA. Objectives: The aim of the study was to evaluate the risk of PA increase, at 1-year intervals, for selected BD, especially controlling for the confounding effect of MA. Methods: The sample comprised of 27,944 liveborns presenting 1 of 18 selected isolated BD. Conditional logistic regressions were applied to evaluate the risk of advanced PA and its yearly increase, adjusting by MA and other variables. Results: Of the 18 analyzed BD, only the risk for preaxial polydactyly (PreP) showed a significant association with increasing PA, while advanced MA was of low risk. For esophageal and anal atresia, associations with both PA and MA increases were observed. Conclusions: Results support the hypothesis of advanced PA as a risk factor for PreP and helps clarify the so far unexplained nonrandom association between this defect and Down syndrome.

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Gili, J. A., Rittler, M., Heisecke, S., Campaña, H., Giménez, L., Santos, M. R., … Poletta, F. A. (2023). Paternal age and risk for selected birth defects in a large South American sample. Birth Defects Research, 115(19), 1866–1875. https://doi.org/10.1002/bdr2.2252

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