OBJECTIVE: Among couples identified as at-risk by expanded carrier screening (ECS) during the preconception period, describe the impact of ECS results on planned and actual pregnancy management.
DESIGN: Retrospective survey of couples at increased risk for having an affected pregnancy.
MATERIALS AND METHODS: Couples who elected ECS and were found to be at increased risk of having a pregnancy affected by at least one of 176 genetic conditions were invited to complete a survey about the impact of ECS results on planned and actual pregnancy management.
RESULTS: Two hundred and thirty five at-risk couples (ARCs) tested preconceptionally completed the survey. Sixty-six percent reported that they were altering or planning to alter pregnancy management to reduce the risk of having an affected pregnancy, including in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), use of donated gametes, adoption, or avoidance of pregnancy altogether. Subsequent to preconception ECS, nearly half of ARCs had at least one pregnancy, resulting in 111 pregnancies informed by ECS; 39% of these pregnancies were achieved through IVF with PGD, reducing the risk of the pregnancy being affected. Prenatal diagnosis was pursued in one-third of pregnancies, with 36% of pregnancies found to be affected; more than half of affected pregnancies were terminated. In couples who chose not to pursue prenatal diagnosis, common reasons cited were to avoid risk to the pregnancy, a perception that it was not necessary because the couple had undergone IVF with PGD, a perception that the risk of an affected pregnancy was low, and that it “would not make a difference” in the management of the pregnancy. In those that did not undergo prenatal diagnosis, more than half of couples tested or planned to test the baby after birth. In babies tested after birth, 27% were found to be affected.
CONCLUSIONS: In a majority of couples surveyed, preconception ECS led to altered pregnancy management that reduced the risk of an affected pregnancy. In addition, ECS facilitated diagnosis and ruled out disease after birth.