The new face of cystic fibrosis in the era of population genetic carrier screening

Miri Dotan, Hannah Blau,Amihood Singer, Patrick Stafler,Dario Prais, Malena Cohen-Cymberknoh,Joel Reiter, Ori Efrati,Adi Dagan, Lea Bentur,Michal Gur, Galit Livnat, Karin Yaacoby-Bianu,Micha Aviram,Inbal Golan Tripto, Ophir Bar-On, Reut Matar,Shani Hagit, Mira Malcov, Gheona Altarescu

Journal of Cystic Fibrosis（2023）

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摘要

•PGCS has significantly reduced CF birth rates in Israel.•PGCS has led to a shift toward milder CF phenotypes.•Challenges remain in detecting rare variants and increasing PGCS utilization.

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关键词

Cystic fibrosis,Population carrier screening,Antenatal screening,Pre-implantation genetic diagnosis

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