Study On The Efficiency Of Screening For Carriers Of Single Gene Disease During Pregnancy/Pre-pregnancy

Objective:To investigate the carrier rate of single-gene recessive genetic diseases in Chenzhou,Hunan,as well as the types and incidence of common single-gene recessive genetic diseases;To explore the screening efficiency of single-gene disease carriers before pregnancy or pre-pregnancy and its application value in the prevention and control of birth defects.Method: A total of 1895 peripheral blood samples of study subjects were collected from unrelated women or couples with normal phenotype prepregnancy or 14 weeks who were unrelated to the Outpatient Department of Pregnancy and Child Care Department of Chenzhou First People’s Hospital from April 2018 to March 2020,and the target was used.The method of capturing high-throughput sequencing technology detects 89 genes of 100single-gene recessive genetic diseases within the scope of screening.Interventional prenatal diagnosis was performed for high-risk couples.Results:1.Among the 1.1895 samples,566 were positive samples,the positive rate was 29.87%(566/1895),708 pathogenic variants were detected,each of which carried 0 to 4,and 1 single-gene recessive genetic disease pathogenic gene 23.22%(440/1895),carrying 2 kinds of single-gene recessive genetic disease genes 5.59%(106/1895),carrying 3 kinds of single-gene recessive genetic disease genes 0.84%(16/1895),carrying 4 This single-gene2.The common single-gene recessive genetic diseases in the detection range in this area are: thalassemia,autosomal recessive deafness,familial hemophagocytic lymphohistiocytosis,Niemann Pick’s disease,spinal muscular atrophy,and their carrying rates are respectively They are: 9.82%(186/1895),4.49%(85/1895),3.06%(58/1895),2.21%(42/1895),1.95%(37/1895).3.15 high-risk couples carrying the same pathogenic gene or carriers of X chromosome-linked single-gene recessive genetic disease were diagnosed with invasive prenatal diagnosis,and 5 children were diagnosed as children with single-gene recessive genetic disease.After genetic counseling,they were informed Choose to terminate the pregnancy.Conclusion:1.The overall carrier rate of single-gene recessive genetic diseases within the detection range of this region is 29.87%,and each body carries 0 to 4 pathogenic variants,with an average of 0.37 pathogenic variants per person.2.The common single-gene recessive genetic diseases in the detection area in this area are: thalassemia,autosomal recessive deafness,familial hemophagocytic lymphohistiocytosis,Niemann Pick’s disease,spinal muscular atrophy.3.Through screening and prenatal diagnosis for carriers of single-gene recessive genetic diseases,the carriers of single-gene recessive genetic diseases can be identified early and patients with single-gene recessive genetic diseases can be diagnosed,and birth defects can be reduced.The sample size can be expanded to further explore the clinical value of screening for carriers of single-gene recessive genetic diseases.recessive genetic disease causes 0.21%(4/1895)of the pathogenic genes,with an average of 0.37 pathogenic variants per person.