单基因遗传病扩展性携带者筛查研究进展  

Research progress on expanded carrier screening of monogenic genetic diseases

作　　者：李素萍 姜湖铃 杨莉[1] 祝建军 LI Suping;JIANG Huling;YANG Li;ZHU Jianjun(Jiaxing Women and Children’s Hospital,Wenzhou Medical University,Jiaxing Maternity and Child Health Care Hospital,Fetal Medical Center,Jiaxing University Affiliated Women and Children’s Hospital,Jiaxing,Zhejiang 314000,China)

机构地区：[1]温州医科大学嘉兴市妇女儿童医院(嘉兴市妇幼保健院)胎儿医学中心/嘉兴大学附属妇女儿童医院,浙江嘉兴314000

出　　处：《中国优生与遗传杂志》2024年第10期2204-2209,共6页Chinese Journal of Birth Health & Heredity

基　　金：浙江省自然科学基金(LTGY24H040001);嘉兴市科技计划项目(2023AY31030)。

摘　　要：扩展性携带者筛查(ECS)近年来应用于临床,用于预防单基因病,减少出生缺陷发生。不同地区采用的ECS策略从几种到几百种不等。本文从单基因病与预防出生缺陷的角度,对ECS的发展史、病种选择、临床应用策略、机遇与挑战等方面进行总结,重点阐释近几年不同地区筛查策略的探索,旨在为如何选择经济有效的筛查策略提供参考。In recent years,expanded carrier screening(ECS)has been gradually applied clinically to prevent monogenic diseases and thus reduce birth defects.ECS screening panel used in different regions range from a few to hundreds.This article summarizes the development history,disease selection,clinical application strategies,opportunities and challenges of ECS from the perspective of monogenic diseases and birth defect prevention,and focuses on the exploration of different screening strategies in specific areas in recent years,aiming to provide some reference for how to choose cost-effective screening diseases.

关 键 词：携带者筛查 单基因病 隐性遗传病 出生缺陷预防 

分 类 号：R596[医药卫生—内科学]