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PECS identifies couples who may have had children with autosomal recessive diseases. The current prevalence of carrier status for these conditions in China is not well defined. This study assesses the prevalence of carrier status of selected genetic conditions utilizing an expanded genetic carrier screening panel in a large population of china patients. Methods: A retrospective chart review of all patients tested with a single PECS panel at Xinjiang jiayin hospital from 2019 to 2021 were included, and the prevalence of pathogenic positive carrier status in the china population was evaluated. The pathogenic variants were classified as per the American College of Medical Genetics criteria. Results: 6437 individuals were analyzed with PECS testing for 208 genetic conditions. 2749 carriers (42.71%) were identified with 799 pathogenic variants in 166 different genes. The most prevalent alleles found were associated with Hemochromatosis, Deafness autosomal recessive 1A, cystic fibrosis, Gilbert syndrome, Phenylketonuria, and Krabbe disease. 71 of the 2653 participating couples (2.68%) were identified as being at-risk couples. Conclusion: This study reviews the Chinese population-based carrier screening panel prevalence, which is different from other countries, possibly due to the different panel/screening platform used. In order to get a better study of the prevalence of carrier screening in the Chinese population, the genetic screening scope should be expanded to obtain more carrier conditions. At the same time, we suggest that couples who have needs for fertility, regardless of their ethnic background, should undergo carrier screening and genetic counseling prior to receiving reproductive medicine treatment |
