Genetic study on candidates for oocyte donation.

Area of Science:

• Reproductive Medicine
• Human Genetics
• Medical Diagnostics

Background:

• Assisted reproductive medicine, including oocyte donation, is in high demand.
• Genetic testing, such as carrier screening for recessive disorders, is vital for evaluating hereditary risks in donors.
• Current recommendations for comprehensive donor screening vary, with ongoing debate on mandatory expanded carrier screening.

Purpose of the Study:

• To evaluate the role and outcomes of genetic testing in oocyte donors.
• To assess the prevalence of genetic alterations leading to donor exclusion.
• To emphasize the importance of genetic counseling in optimizing reproductive outcomes.

Main Methods:

• A retrospective study analyzed genetic testing data from 581 oocyte donors between June 2014 and September 2023.
• Karyotyping and carrier screening for Cystic Fibrosis, Fragile X syndrome, and Spinal Muscular Atrophy were performed.
• Pre and post-test counseling was conducted at a private assisted reproduction clinic.

Main Results:

• 81 out of 581 oocyte donors were excluded from donation.
• Exclusions were due to karyotype alterations (5/563), Cystic Fibrosis carrier status (57/581), Spinal Muscular Atrophy carrier status (11/394), and Fragile X gene alterations (8/426).
• The findings underscore the clinical significance of genetic screening in donor populations.

Conclusions:

• Genetic testing and counseling are essential components of the oocyte donation process.
• Implementing genetic screening helps mitigate hereditary risks and optimize reproductive success.
• The study supports the necessity of thorough genetic evaluation for oocyte donors.