孕前携带者筛查的范围：从目标基因筛查到综合方法的回顾

International Journal on Obstetrics and Gynecology Pub Date : 2024-01-30 DOI:10.51626/ijog.2024.04.00027

Corresponding

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引用次数: 0

摘要

据估计，目前有 1800 多种遗传性罕见病，其发病率因地理位置而异，并受到遗传多样性、环境因素和社会条件的影响。孕前携带者筛查在预防后代患上罕见病方面起着至关重要的作用。生殖决策是衡量人群筛查临床实用性的既定标准，它能指导夫妇做出明智的生殖决策。

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The Spectrum of Preconception Carrier Screening: Review of Targeted Gene Screening to Comprehensive Approaches

It is estimated that there are more than 1800 inherited rare diseases, and their prevalence differs based on geographic locations, influenced by genetic diversity, environmental factors, societal conditions. Preconception Carrier Screening has a crucial role to play in the prevention of these rare diseases in future generations. Reproductive decision-making is the established measure of the clinical utility of population-based screening that guides couples to make informed reproductive decisions.

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International Journal on Obstetrics and Gynecology

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