Abstract
Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to determine reproductive risk. Data on the clinical utility of screening conditions beyond professional guidelines are scarce. Individuals underwent ECS for up to 110 genes. Five-hundred thirty-seven at-risk couples (ARC), those in which both partners carry the same recessive disease, were invited to participate in a retrospective IRB-approved survey of their reproductive decision making after receiving ECS results. Sixty-four eligible ARC completed the survey. Of 45 respondents screened preconceptionally, 62% (n = 28) planned IVF with PGD or prenatal diagnosis (PNDx) in future pregnancies. Twenty-nine percent (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. Two 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). Most ARC altered reproductive planning, demonstrating the clinical utility of ECS. Severity of conditions factored into decision making.
Highlights
Carrier screening identifies couples at increased risk of having a child with a genetic disease and enables them to consider alternative reproductive options
Studies of outcomes after population-based carrier screening initiatives for a limited number of disorders have consistently found a reduced incidence of the disease of interest due to the decisions made by Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of at-Risk
The purpose of this study was to learn about the reproductive decisions of at-risk couples (ARC) as identified by expanded carrier screening (ECS) from a nationwide population
Summary
Carrier screening identifies couples at increased risk of having a child with a genetic disease and enables them to consider alternative reproductive options. Those who do not make alternative reproductive decisions based on their carrier status may still use this knowledge to prepare for the birth of an affected child and potentially facilitate early intervention (Edwards et al 2015; Nazareth et al 2015). Studies of outcomes after population-based carrier screening initiatives for a limited number of disorders have consistently found a reduced incidence of the disease of interest due to the decisions made by Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of at-Risk
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