Expert consensus on the detection of genome-wide copy number variations in abortive tissues and family reproductive consultation.
10.3760/cma.j.cn511374-20221019-00699
- VernacularTitle:流产物基因组拷贝数变异检测应用及家庭再生育咨询的专家共识
- Author:
Xin CHEN
;
Zhuo LI
;
Desheng LIANG
;
Lingqian WU
1
Author Information
1. Research Center for Medical Genetics, School of Life Science, Central South University, Hunan Jiahui Genetics Hospital, Changsha, Hunan 410008, China. wulingqian@sklmg.edu.cn.
- Collective Name:Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association;Clinical Genetics Group Medical Genetics Branch Of Chinese Medical Association;Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association
- Publication Type:Journal Article
- MeSH:
Pregnancy;
Child;
Female;
Humans;
DNA Copy Number Variations;
Consensus;
Chromosome Aberrations;
Chromosome Disorders/genetics*;
Abortion, Spontaneous/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(2):129-134
- CountryChina
- Language:Chinese
-
Abstract:
Chromosomal aberrations including numerical abnormalities and segment duplications/deletions, as genome-wide copy number variations (CNVs), are a leading cause for spontaneous abortion. Analysis of abortive tissues for such CNVs can detect potential genomic variations in the couple and provide guidance for the choice of appropriate method to avoid further miscarriage or birth of child with chromosomal disorders. With evidence-based clinical data, an expert group jointly formed by the Genetic Disease Prevention and Control Group, Committee for Birth Defects Prevention and Control, Chinese Association of Preventive Medicine; the Clinical Genetics Group, the Society of Medical Genetics, Chinese Medical Association; the Professional Committee for Prenatal Diagnosis of Genetic Diseases, the Society of Medical Geneticists, Chinese Medical Doctor Association has discussed and formulated this consensus, with an aim to provide guidance for the application of genomic CNVs detection for the abortive tissue and genetic counseling for family reproduction.
