“Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples”, 2016-08-14 (; backlinks; similar):
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.
Method: 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. 2⁄3 affected pregnancies were terminated.
Disease severity was found to have statistically-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.