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Full-Text Articles in Life Sciences
Carrier Screening For Women Undergoing Elective Oocyte Cryopreservation (Eoc): A Look At Practice Among Reproductive Endocrinologists At An Academic Fertility Clinic, Melissa Manuelli
Human Genetics Theses
Elective oocyte cryopreservation (EOC) is a process involving freezing and banking oocytes with the intention to be used in the future for pregnancy. Cryopreserving oocytes allows women to enhance their reproductive autonomy by reducing the effects of age-relatedfertility decline. Similarly, expanded carrier screening (ECS) completed prior to conception allows women to consider their full range of reproductive options including in-vitro fertilization (IVF) with preimplantation genetic testing (PGT), use of donor gametes, and prenatal testing and diagnosis. In this retrospective chart review, we examine carrier screening practices for 106 EOC patients, and an age-matched control group of 106 IVF patients who …
Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls
Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls
Human Genetics Theses
Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although …