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