Patient Perspectives on Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) is available to couples at risk for transmitting inherited genetic disorders to offspring. Utilized with in-vitro fertilization (IVF), PGD affords couples in which both partners are carriers for the same autosomal recessive condition the opportunity to have embryos tested in the preimplantation stage, and subsequently select unaffected embryos for transfer. As carriers are typically unaffected, PGD for recessive conditions presents some unique considerations, namely in identification of carrier status of both partners. This study examined the perceived benefits and challenges of PGD for recessive conditions among carrier patients in two distinct groups: patients who have previously had a pregnancy or child affected by the recessive condition, and patients who were identified as carriers through expanded carrier screening (ECS). Using phone interviews to investigate attitudes and experiences among patients from both groups, it was predicted that themes would emerge highlighting key differences between these patient populations. Ultimately this study aims to inform genetic counseling practices such that counselors in the realm of assisted reproductive technology (ART) may tailor their sessions to better serve the needs of each subset of PGD patient