摘要
胎儿染色体核型分析是产前诊断胎儿染色体异常的经典细胞遗传学方法。为规范胎儿染色体核型分析,适应医学遗传学技术的发展,由中华预防医学会出生缺陷预防与控制专业委员会牵头制定了本指南,内容包括胎儿染色体核型分析的一般要求、核型分析标准、嵌合的分析、G显带分辨率的确定方法等,以服务于临床工作的需要。
Karyotyping analysis is a classical cytogenetic method for the prenatal diagnosis of fetal chromosomal aberrations.In order to standardize fetal chromosomal karyotyping analysis and adapt to the development of medical genetics technology,the Committee for the Prevention and Control of Birth Defect,Chinese Association of Preventive Medicine has organized the formulation of this guideline.The content has covered general requirements and standards for the analysis of fetal chromosomal karyotypes,analysis of chromosomal mosaicisms,and methods for determining the resolution of G-banding,etc.,with the purpose to serve the clinical practice.
作者
中华预防医学会出生缺陷预防与控制专业委员会
张雪梅
戚庆炜
胡婷
刘珊玲
Committee for the Prevention and Control of Birth Defect,Chinese Association of Preventive Medicine;Zhang Xuemei;Qi Qingwei;Hu Ting;Liu Shanling
出处
《中华医学遗传学杂志》
CAS
CSCD
2021年第5期409-413,共5页
Chinese Journal of Medical Genetics
基金
国家重点研发计划(2018YFC1002203)。
关键词
染色体核型分析
产前诊断
判读指南
Chromosomal karyotyping analysis
Prenatal diagnosis
Guideline for interpretation
