ArticleJournal of assisted reproduction and genetics2026
Effectiveness of preimplantation genetic testing in sickle cell disease: insights from a single-center experience.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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12 authors.
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Abstract
purposeSickle-cell disease (SCD) is a severe autosomal recessive disorder. At-risk couples may prevent transmission either through prenatal diagnosis with possible termination of pregnancy or preimplantation genetic testing for monogenic disease (PGT-M). Data on PGT-M outcomes in this population remain scarce.
methodsWe conducted a monocentric retrospective study (2006-2021). To assess ovarian response to stimulation, each PGT-M cycle for SCD was matched with two control cycles.
resultsSixty couples underwent at least one ovarian stimulation for PGT procedure for SCD. Eight couples (13.3%) had one affected partner (S/S or S/C) and one carrier (A/S), while 52 couples (86.7%) were both carriers (A/S). Thirty-five couples (58.3%) already had an affected child, and 17 couples (28.3%) requested PGT-M with HLA typing. Median female age at first attempt was 33 years. Overall, 19 couples (31.7%) achieved at least one live birth following fresh or frozen embryo transfer. Among the 17 couples requesting HLA typing, three HLA-matched births (15.7%) and one unmatched healthy birth were achieved. None of the five women affected by SCD achieved a live birth. Ovarian response did not differ significantly between women with sickle cell trait and the controls.
conclusionPGT-M is as a viable option for obtaining healthy offspring. These results bolster the argument that PGT-M serves as an alternative to prenatal diagnosis for eligible couples. Our study aims to assist geneticists, gynecologists, and hematologists in providing the necessary guidance before embarking couples on this long and often challenging journey.
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