Application of Non-invasive Prenatal Genetic Testing in Down’s High-risk Groups

JIA Hai-zhen

Abstract：Objective:To investigate the application value of non-invasive prenatal genetic testing in Down’s high-risk groups.Method:In pregnant women,on the basis of informed consent,selecting 670 cases of pregnant women with Down’s high-risk pregnant women from 16 to 24 weeks of pregnancy acquisition of peripheral blood extracting cell-free fetal DNA in Shenzhen Genomics Clinical Inspection Center Line of fetal chromosomal aneuploidy noninvasive genetic testing,and in pregnant women after childbirth by professional new pediatrician to check the appearance and characteristics,to evaluate the accuracy of the invasive genes to check.Result:670 cases of pregnant women by noninvasive genetic testing,prompt, 101 cases of pregnant women was a Down’s high-risk groups,the results were negative,including 21 trisomy syndrome,82 cases of high risk,and 18 trisomy syndrome(19 cases),and 101 cases of Down’s syndrome in the high-risk pregnant women follow-up telephone and door to door,and after the birth of newborns appearance by professional new pediatricians examination were found abnormal,the sensitivity was 100%.Conclusion:Non-invasive prenatal genetic testing the sensitivity to be high in the Down’s high-risk group,the error diagnostic rate is low,has effectively avoided the intrusional pre-natal diagnosis which wants invariably,sieves regarding the Down’s high-risk group looks up has the important value.