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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

Caroline Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong
doi: https://doi.org/10.1101/069393
Caroline Ghiossi
CSU Stanislaus;
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James D Goldberg
Counsyl
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Imran S Haque
Counsyl
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Gabriel A Lazarin
Counsyl
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Kenny K Wong
Counsyl
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  • For correspondence: research@counsyl.com
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Abstract

Purpose: Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes for determining reproductive risk. Data on clinical utility of screening conditions beyond professional guidelines is scarce. Methods: Individuals underwent ECS for up to 110 genes. 537 at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Results: 64 eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n=28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. 29% (n=13) were not planning to alter reproductive decisions. The remaining 9% (n=4) of responses were unclear. Of 19 pregnant respondents, 42% (n=8) elected PNDx, 11% (n=2) planned amniocentesis but miscarried, and 47% (n=9) considered the condition insufficiently severe to warrant invasive testing. Of the 8 pregnancies that underwent PNDx, 5 were unaffected and 3 were affected. 2 of 3 affected pregnancies were terminated. Disease severity was found to have significant association (p=0.000145) with changes in decision making, whereas guideline status of diseases, controlled for severity, was not (p=0.284). Conclusion: Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making. Keywords: Expanded carrier screening; clinical utility; reproductive decisions; preconception screening; prenatal diagnosis

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted August 14, 2016.
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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
Caroline Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong
bioRxiv 069393; doi: https://doi.org/10.1101/069393
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Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
Caroline Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong
bioRxiv 069393; doi: https://doi.org/10.1101/069393

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