Medical Journal of Chinese People's Liberation Army 2020;45(12):1254-1258
doi:10.11855/j.issn.0577-7402.2020.12.07
Status of detecting fetal free DNA in maternal peripheral blood in Beijing in 2019
Yan-Chun ZHANG 1 ; Hong-Yan XU ; Kai-Bo LIU
Affiliations
Keywords
detection of fetal free DNA in maternal peripheral blood; prenatal screening; positive predictive value; detection rate
Country
China
Language
Chinese
Abstract
Objective To assess the prenatal screening,diagnosis and pregnancy outcomes status with noninvasive prenatal testing(NIPT)in Beijing in 2019.Methods Descriptive statistical methods were used to analyze the screening and diagnosis status by detecting fetal free DNA in maternal peripheral blood in 8 prenatal diagnosis institutions in Beijing.Results A total of 65136 cases of pregnant women accepted NIPT in the 8 institutions in 2019,accounting for 29.8%of the total number of pregnant women(65 136/218 396).The compound coincidence positive predictive rate of 21\18\13-trisomy syndrome was 57.4%(152/265),the coincidence rates of 21-trisomy,18-trisomy,13-trisomy,sex chromosomes and other chromosomes were 76.0%(117/154),38.89%(28/72),18.0%(7/39),30.5%(85/279)and 16.4%(30/183),respectively.Among the 65 136 pregnant women,10 791 cases were suitable for population screening(16.6%);53 833 cases were used with caution(82.7%);343 cases were not suitable for population screening(0.5%).By following-up,one case of 21-trisomy and one case of 18-trisomy were found to be false negative cases.The detection rate of 21\18\13-trisomy syndrome was 98.7%(152/154),of 21-trisomy was 99.2%(117/118),of 18-trisomy was 96.6%(28/29),and of 13-trisomy was 100%(7/7).The prenatal diagnosis rate of NIPT was 84.6%for high-risk pregnant women(615/727),of them the prenatal diagnosis rate was 91.7%(243/265)for 21\18\13-trisomy syndrome cases.Conclusions Detection of fetal free DNA in maternal peripheral blood(NIPT)has become one of the important methods of screening 21-trisomy syndrome.In clinical applications,doctors should strictly grasp the test indications,pay attention to genetic counseling before and after testing,improve the prenatal diagnosis rate,strengthen laboratory quality control and improve the quality of testing.
备案号: 11010502037788, 京ICP备10218182号-8)