孕前及孕早期常见隐性单基因遗传病携带者筛查临床应用专家共识

Consensus on screening for common recessive single-gene genetic disease carriers before pregnancy and in early pregnancy

携带者筛查作为筛查单基因遗传病生育高风险夫妻的方法,目前在国内出生缺陷预防工作中受到越来越多的重视,临床相关工作陆续开展。但相关医疗机构和检测实验室对携带者筛查的临床定位、目标人群、适宜筛查的疾病/基因和位点变异、数据分析及解读,以及检测前后的遗传咨询等方面尚缺乏共识,临床广泛实施携带者筛查的卫生经济学效益也有待评估。中华预防医学会出生缺陷预防与控制专业委员会产前筛查和诊断学组协同国内相关领域专家进行初稿的撰写和讨论修订,并经过国内相关领域内专家的广泛研讨、审查及函审修改,形成了本专家共识。本共识提出了当前国内开展携带者筛查的适用人群,疾病纳入原则,筛查基因和变异位点的要求,实验室检测的质量控制要点和携带者筛查报告应包括的重要信息,以及检测前后咨询的相关要点,结合当前国内开展携带者筛查的发展阶段和临床定位等,形成推荐意见,供临床参考。

Carrier screening,a method for screening couples at high risk of single-gene diseases,has been receiving increasing attention gradually clinically applied in the field of birth defect prevention in China.However,there is still a lack of consensus among relevant medical institutions and testing laboratories regarding the clinical definition,target population,diseases/genes,and variant locus suitable for screening,data analysis and interpretation,genetic counseling before and after carrier srceening.The economic benefits and cost-effectiveness of routine implementing carrier screening in clinical practice also need to be evaluated.Based on the current situation,associated with Prenatal Screening and Diagnosis Group,Birth Defect Prevention and Control Committee,Chinese Preventive Medical Association,were entrusted organized to draft and revise the initial version.This expert consensus was compiled after extensive research,review,and consultation by domestic experts in related fields.The consensus puts forward the applicable population for carrier screening in China,principles for inclusion of diseases,requirements for screening genes and variant locus,critical points for quality control of laboratory testing,vital information to be included in carrier screening reports,as well as relevant essential points for counseling before and after testing.Combining the current development stage and clinical positioning of carrier screening in China,the consensus forms recommendations for clinical application.