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

Expert consensus on the detection of genome-wide copy number variations in abortive tissues and familyreproductiveconsultation

胚胎染色体异常是导致自然流产的重要因素之一, 具体包括染色体数目异常和片段重复/缺失, 均属于基因组拷贝数变异的范畴。流产物基因组拷贝数变异检测不仅能够检测流产物中的染色体数目异常, 还能够检测其染色体片段的重复/缺失, 进而揭示夫妇携带的隐匿性基因组结构变异, 明确诊断, 指导其选择再生育的方式和产前诊断, 避免再次流产和生育染色体病患儿。在前期大量循证医学证据的基础上, 经中华预防医学会出生缺陷预防与控制专业委员会遗传病防控学组、中华医学会医学遗传学分会临床遗传学组、中国医师协会医学遗传医师分会遗传病产前诊断专业委员会共同成立专家组, 讨论并提出"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", 旨在为流产物基因组拷贝数变异检测应用和家庭再生育的遗传咨询提供指导。

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.