It takes two: uptake of carrier screening among male reproductive partners. (2nd December 2019)

• Record Type: Journal Article
• Authors: Giles Choates, Meagan; Stevens, Blair K.; Wagner, Chelsea; Murphy, Lauren; Singletary, Claire N.; Wittman, A. Theresa
• Is Part Of: Prenatal diagnosis. Volume 40:Number 3(2020)
• Page Start: 311
• Page End: 316
• Publication Date: 2019-12-02
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5588
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: To describe uptake of carrier screening by male reproductive partners of prenatal and preconception patients. Methods: A retrospective database review of all prenatal and preconception patients seen for genetic counseling in Maternal Fetal Medicine clinics was performed. Descriptive statistics and chi‐square analysis were used on the data set. Results: Within the study period, 6087 patients were seen for genetic counseling, of whom 661 were identified as a carrier of an autosomal recessive disorder by their referring provider or genetic counselor. Despite guidelines recommending partner testing for risk clarification when a woman is known to be a carrier of an autosomal recessive condition, only 41.5% male partners elected carrier screening to clarify the couple's reproductive risk, with a majority of males (75%) having screening consecutively. Of all assessed variables, the only significant predictors of male carrier screening uptake were female parity and earlier gestational age ( p < .0001, and p = .001, respectively). Conclusion: With less than half of male partners pursuing carrier screening when indicated, its utility becomes severely diminished. More research is needed to explore reasons why males elect or decline carrier screening. Abstract : What is known about this topic? Carrier screening is recommended for preconception and prenatal patients and for male partners when an increased risk for an autosomal recessive condition is identified. What this study adds? This study demonstrates the discrepancy between guidelines and practice, as less than half of males are completing carrier screening when indicated. This study highlights the need for additional research into this little‐explored topic of why males are not pursuing carrier screening when indicated.