Abstract
PurposeExpanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact of ECS on planned and actual pregnancy management in the largest sample of ARCs studied to date. MethodsCouples who elected ECS and were found to be at high risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about their actions and pregnancy management. ResultsThree hundred ninety-one ARCs completed the survey. Among those screened before becoming pregnant, 77% planned or pursued actions to avoid having affected offspring. Among those screened during pregnancy, 37% elected prenatal diagnostic testing (PNDx) for that pregnancy. In subsequent pregnancies that occurred in both the preconception and prenatal screening groups, PNDx was pursued in 29%. The decision to decline PNDx was most frequently based on the fear of procedure-related miscarriage, as well as the belief that termination would not be pursued in the event of a positive diagnosis. ConclusionECS results impacted couples' reproductive decision-making and led to altered pregnancy management that effectively eliminates the risk of having affected offspring.
Highlights
Serious recessive and X-linked conditions affect an estimated 1 in 300 pregnancies.1 universal screening for only the two conditions recommended by current guidelines, cystic fibrosis (CF) and spinal muscular atrophy,2–4 misses nearly 70% of carriers of rare disease5 and fails to detect between 13% and 94% of pregnancies affected with profound and severe conditions, depending on ethnicity.6,7 Expanded carrier screening (ECS), i.e., testing reproductive partners’ carrier status for a large number of recessive and X-linked conditions without regard to ethnicity, addresses this gap
When ECS is undertaken during the preconception period, results enable interventions to avoid affected pregnancies, such as in vitro fertilization (IVF) with preimplantation genetic testing for monogenic conditions (PGT-M); and when undertaken during the prenatal period, results facilitate prenatal diagnostic testing (PNDx; amniocentesis or chorionic villus sampling, CVS) and pregnancy management
The prevalences of CF- and thalassemia-affected births were reduced in other countries and in parts of the United States following the institution of carrier screening programs
Summary
Serious recessive and X-linked conditions affect an estimated 1 in 300 pregnancies. universal screening for only the two conditions recommended by current guidelines, cystic fibrosis (CF) and spinal muscular atrophy, misses nearly 70% of carriers of rare disease and fails to detect between 13% and 94% of pregnancies affected with profound and severe conditions, depending on ethnicity. Expanded carrier screening (ECS), i.e., testing reproductive partners’ carrier status for a large number of recessive and X-linked conditions without regard to ethnicity, addresses this gap. Serious recessive and X-linked conditions affect an estimated 1 in 300 pregnancies.. Universal screening for only the two conditions recommended by current guidelines, cystic fibrosis (CF) and spinal muscular atrophy, misses nearly 70% of carriers of rare disease and fails to detect between 13% and 94% of pregnancies affected with profound and severe conditions, depending on ethnicity.. Expanded carrier screening (ECS), i.e., testing reproductive partners’ carrier status for a large number of recessive and X-linked conditions without regard to ethnicity, addresses this gap. Population-wide carrier screening has well-established clinical utility, i.e., the improvement in health outcomes as a result of preconception screening, prenatal diagnosis, and early identification of affected pregnancies that enables condition-specific counseling and management.. Between 1970 and 2000, screening for Tay–Sachs disease carrier status reduced the incidence of Tay–Sachs disease in the US and Canadian Ashkenazi Jewish population by 90%.10,11. Population-wide carrier screening has well-established clinical utility, i.e., the improvement in health outcomes as a result of preconception screening, prenatal diagnosis, and early identification of affected pregnancies that enables condition-specific counseling and management. Between 1970 and 2000, screening for Tay–Sachs disease carrier status reduced the incidence of Tay–Sachs disease in the US and Canadian Ashkenazi Jewish population by 90%.10,11 the prevalences of CF- and thalassemia-affected births were reduced in other countries and in parts of the United States following the institution of carrier screening programs.
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