Masters Thesis

Experiences and perspectives of patients who have considered or undergone transfer of embryos with mosaic PGT-A results

To improve implantation rates and pregnancy outcomes, fertility clinics have incorporated advances in embryo genetic testing into their practices. Next-generation sequencing (NGS) technology allows for the reporting of mosaicism through preimplantation genetic testing for aneuploidy (PGT-A). The transfer of embryos with mosaic PGT-A results has resulted in apparently healthy and karyotypically-normal babies, albeit with lower ongoing pregnancy rates than euploid embryo transfer. The ambiguity of mosaic PGT-A results and the lack of consistency and standards in fertility practices surrounding mosaic embryo transfer (MET) leaves patients faced with difficult decisions. The objective of this study was to elucidate the experiences and perspectives of patients who have considered or undergone transfer of embryos with mosaic results with the ultimate goal of improving counseling practices to optimize patient outcomes. Participants were recruited from Facebook mosaic embryo support groups to participate in in-depth interviews. Qualitative analysis found that embryos with mosaic results represented a source of hope and potential for participants. Some participants perceived a discordance between independently gathered information and clinical approaches to MET, which led to distrust and emotional distress. Participants expressed a desire for additional patient-friendly resources and information, provider transparency, and non-directive guidance to aid in decision-making. These findings suggest that the incorporation of genetic counseling in fertility practices could help resolve the issues described by participants by providing pre-test and post-test counseling, in addition to personalized psychosocial support.

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