P-562 Extended carrier screening using the qCarrier Plus® test in the field of reproductive medicine: retrospective results after five years of experience
| Autor: | N Forne's Garcia, R Garcia Cruz, L Carreño Gago, A Borgia, M Segura Puimedon, L Armengol Dulcet |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Human Reproduction. 37 |
| ISSN: | 1460-2350 0268-1161 |
| DOI: | 10.1093/humrep/deac107.519 |
| Popis: | Study question To determine the reproductive risk of women and couples for the tested recessive and X-linked diseases. Summary answer An increased reproductive risk has been identified in 6% of women and in 6% of couples due to the presence or coincidence of pathogenic variants. What is known already Carrier testing is an established method to determine the reproductive risk of couples undergoing reproduction techniques. This risk assessment may differ depending on the analyzed diseases and the studied population. Study design, size, duration Observational retrospective study in more than 10,000 samples from gamete donors and patients undergoing assisted reproduction treatment, referred to our laboratory during 5 years for carrier screening using the qCarrier Plus® test. Participants/materials, setting, methods This test uses massive sequencing technology to screen for mutations causing 328 autosomal recessive and X-linked diseases. For the present study, only pathogenic or probably pathogenic variants were considered and variants of uncertain significance (VUS) were excluded. Main results and the role of chance Our data indicate that around 80% of the individuals in our cohort are carriers of at least one pathogenic variant, while 50% are carriers for multiple diseases. An increased reproductive risk has been identified in approximately 6% of women tested for being carriers of pathogenic variants in the X chromosome genes, and in 6% of couples due to coincidence of pathogenic variants causing the same disease. Furthemore, 40 of the genes included in our panel have a carrier frequency greater than 1%. Limitations, reasons for caution There are both technical and human limitations that might interfere in the analytical process, and that might hamper the identification of some genetic variants. Wider implications of the findings Not applicable. Trial registration number Not applicable |
| Databáze: | OpenAIRE |
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