出生缺陷分子诊断的现状与思考  

Current status and reflection on molecular diagnosis of birth defects

作　　者：祁明 傅启华[1] 张晓青[1] Qi Ming;Fu Qihua;Zhang Xiaoqing(Pediatric Translational Medicine Institute,Shanghai Children′s Medical Center,School of Medicine,Shanghai Jiao Tong University/Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics,Shanghai 200127,China)

机构地区：[1]上海交通大学医学院附属上海儿童医学中心儿科转化医学研究所、上海市儿科临床分子诊断重点实验室,上海200127

出　　处：《中华预防医学杂志》2024年第2期166-170,共5页Chinese Journal of Preventive Medicine

基　　金：浦东新区卫生健康委员会学科建设计划重点学科群(PWZxq2022-07);国家自然科学基金(82072372)。

摘　　要：出生缺陷是影响我国出生人口素质和威胁儿童健康的重大问题,遗传因素是导致出生缺陷的重要原因。对于由遗传因素所致的出生缺陷,分子诊断是其筛查、确诊与预防的关键手段。如何在临床开展大规模经济有效的分子诊断与筛查,是我国出生缺陷防治领域的重大挑战。本文将从我国出生缺陷疾病现状、分子诊断技术在出生缺陷防控中的应用及该技术在临床推广所面临的挑战等方面展开述评,以期为出生缺陷分子诊断的临床实践提供参考。Birth defects are a major problem threatening the health of children in China.Genetic factors play a major role in birth defect etiology.Molecular diagnosis is the key means for screening,diagnosing,and preventing birth defects caused by genetic factors.How to carry out large-scale and cost-effective molecular diagnosis in clinical practice is a major challenge in the prevention and treatment of birth defects in China.This article reviews the current status of birth defects in China,the application of molecular diagnostic technology in birth defect prevention and control,and the challenges in promoting its use,to provide references for clinical practice in birth defect molecular diagnosis.

关 键 词：分子诊断技术 出生缺陷 基因组学 高通量测序 述评 

分 类 号：R725[医药卫生—儿科]