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

J Genet Couns. 2018 Jun;27(3):616-625. doi: 10.1007/s10897-017-0160-1. Epub 2017 Sep 27.


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.

Keywords: Clinical utility; Expanded carrier screening; Preimplantation genetic diagnosis; Prenatal diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptation, Psychological
  • Decision Making
  • Female
  • Genes, Recessive
  • Genetic Carrier Screening / methods*
  • Humans
  • Infertility / psychology
  • Male
  • Pregnancy
  • Prenatal Diagnosis / psychology
  • Reproductive Behavior / psychology*
  • Retrospective Studies
  • Spouses / psychology*