Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology

Autor: Min Xiao, Caixia Lei, Guangquan Chen, Yanping Xi, Junping Wu, Yueping Zhang, Shuo Zhang, Wenbi Zhang, Xiaoxi Sun
Jazyk: angličtina
Rok vydání: 2020
Předmět:
0301 basic medicine
Oncology
Adult
Male
medicine.medical_specialty
China
Reproductive Techniques
Assisted
lcsh:QH426-470
medicine.medical_treatment
expanded carrier screening
Genes
Recessive
030105 genetics & heredity
Han Chinese ethnicity
03 medical and health sciences
assisted reproductive technology
Internal medicine
Prenatal Diagnosis
Genetics
Medicine
Humans
Family history
Han population
Molecular Biology
Genetics (clinical)
Preimplantation Diagnosis
Genetic testing
Pregnancy
In vitro fertilisation
Assisted reproductive technology
medicine.diagnostic_test
business.industry
Genetic Carrier Screening
Genetic Diseases
Inborn
recessive disease
Original Articles
medicine.disease
Carrier rate
lcsh:Genetics
030104 developmental biology
Original Article
Female
business
Carrier screening
preimplantation genetic testing
Zdroj: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
ISSN: 2324-9269
Popis: Background Expanded carrier screening (ECS) has emerged as an effective approach to identify at‐risk couples (ARCs)—before they initiate attempts at reproduction—who possess a high probability of having a child affected by severe recessive diseases. The objective of this study was to evaluate the clinical utility of ECS in Chinese patients seeking the help of assisted reproductive technology (ART). Methods An ECS test, which covers 201 genes implicated in 135 recessive (autosomal or X‐linked) diseases, was routinely offered to all ART patients in a single genetics and in vitro fertilization clinic. Additional options for preimplantation or prenatal genetic diagnosis were discussed and offered to all ARCs. All ECS results were aggregated and the clinical decisions of the ARCs were surveyed. Results A total of 2,923 ART patients, representing 1,462 couples, were screened. Overall, 46.73% of the individuals were found to be the carriers for at least 1 of the 135 diseases. Of the tested couples, 2.26% (n = 33) were identified as ARCs. As of the completion of this study, 21 (63.6%) ARCs have decided to avert an affected pregnancy with the help of preimplantation genetic testing for monogenetic conditions. The cumulative carrier rate of the 187 autosomal recessive genes in the ECS panel for the 2,836 Han Chinese individuals without a family history was estimated to be 45.91%. The estimated at‐risk couple rate indicates that the screening for only the top 31 genes with gene carrier rates >0.5% would identify more than 94% of the ARCs identified by screening all 187 genes. Conclusion Our study demonstrates that ESC yields a significant clinical value for ART patients in China. In addition, by estimating the yields of the ECS panel, we identify genes that are appropriate for screening the Han population.
We launched a pilot population based expanded carrier screening(ECS) for 135 severe recessive Mendelian conditions in Chinese patients seeking the help of assisted reproductive technology (ART). Our study demonstrates that ESC yields a significant clinical value for the ART patients in China. In addition, by estimating the yields of the ECS panel, we identify genes that are appropriate for screening the Han population.
Databáze: OpenAIRE
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