Date of Award

2014

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Peggy Walker

Abstract

Advanced paternal age (APA) is related to various genetic conditions, behavioral disorders, and adverse pregnancy outcomes. Since the publication of ACMG's practice guidelines on APA in 2008, much has been learned about the causes of paternal age effect (PAE) mutations and their clinical implications. However, no guidelines exist to refer these high-risk pregnancies to prenatal genetics care, nor are effective screening techniques presently available. As such, many patients are not fully-informed about the risks to their pregnancies due to possible APA effects, and neither are are the men who have fathered these pregnancies.

Our findings support that limited APA principles are being disseminated into the general population. Additionally, prenatal patients of advanced maternal age (AMA) and their partners favor the fathers of pregnancies as important decision makers, second only to the mothers. Based on current knowledge of APA risks and molecular mechanisms, as well as our study findings, we support a collaborative effort to address the shortcomings of current prenatal genetic counseling procedure in its discussions of APA. The approach to rectify this discrepancy in prenatal genetic counseling should include a revisit of the 2008 ACMG guidelines concerning APA as well as research efforts directed toward the future goal of providing inclusive genetic counseling for men of APA and the pregnancies they father.

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