Faculty Mentor
Jill Fischer
Major/Area of Research
Genetic Counseling
Description
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 patients
Included in
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 patients