珠海地区20 364例新生儿遗传代谢病筛查结果分析OACSTPCD
Analysis of 20 364 newborn screening results of inherited metabolic diseases in Zhuhai area
目的 初步了解并探讨珠海地区新生儿遗传代谢病筛查情况及发病率,为地区性防治出生缺陷提供有效依据.方法 选取2021年1月至2022年12月在珠海地区出生的20 364例新生儿作为研究对象,进行多种遗传代谢病筛查,对初筛阳性者召回复查,复查仍阳性者进行尿质谱分析和基因检测等明确诊断,统计分析初筛阳性率、总发病率等.结果 20 364例接受串联质谱筛查的新生儿中,初筛阳性人数687例,初筛阳性率为3.37%;初筛阳性召回人数621例,初筛阳性召回率为…查看全部>>
Objective To preliminarily understand and explore the screening status and incidence of neo-natal inherited metabolic diseases and its incidence in Zhuhai area and to provide effective bases for regional prevention and treatment of birth defects.Methods A total of 20 364 newborns born in Zhuhai from January 2021 to December 2022 were selected as the research subjects,and a variety of inherited metabolic diseases were screened.Those with positive initial scre…查看全部>>
周心怡;林萃;吕晓萍;谭功军;汪国庆
广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海 519000广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海 519000广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海 519000广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海 519000广东省珠海市妇幼保健院医学遗传与产前诊断科,广东珠海 519000
基础医学
新生儿遗传代谢病串联质谱法阳性率早期筛查
newborninherited metabolic diseasetandem mass spectrometrypositive rateearly screening
《检验医学与临床》 2024 (8)
1069-1072,1078,5
珠海市社会发展领域科技计划医疗卫生项目(ZH22036201210167PWC).
评论