Objective:To explore the application value of combination of prenatal serological quadruple screening and non-invasive prenatal testing ( NIPT) birth screening mode in fetal chromosome screening. Methods:A total of 11796 pregnant women undergoing maternity check-ups were selected as the observation subjects. According to the prenatal serological quadruple screening,the pregnant women were divided into high-risk group and borderline-risk group. The pregnant women in the high-risk group and borderline-risk group were tested for NIPT,meanwhile the pregnant women with a high-risk NIPT result were subjected to routine karyotyping and/or high-throughput sequencing tests, and all pregnant women were followed up. Results:Down' s screening screened out 721 high-risk pregnant women and 1455 borderline-risk pregnant women. Among the 721 high-risk pregnant women,19 were high-risk by NIPT,that was 2. 64％ of those who required invasive prenatal diagnosis. Among the 1455 pregnant women who showed a borderline-risk in Down' s screening,5 cases were high-risk by NIPT,that was 0. 34％ of those who needed invasive prenatal diagnosis. The 24 pregnant women with high-risk NIPT were all subjected to karyotype analysis,which showed that 20 pregnant women showed chromosomal abnormalities. The high-risk pregnant women in Down's screening confirmed 19 cases,including 13 cases of 21-trisomy syndrome,4 case of 18-trisomy syndrome,1 case of 13-trisomy syndrome, and 1 case of other chromosomal abnormalities. A borderline-risk pregnant woman was diagnosed as 21-trisomy syndrome. A total of 20 cases of 24 pregnant women were consistent with the results of the karyotype analysis. Combined with the pregnancy outcome,the high-risk rate of Down's screening was 6. 11％,the false positive rate of chromosome after combined NIPT screening was 3. 29％,and the detection rate was 83. 33％. Conclusions:Combination of prenatal serological quadruple screening and NIPT birth screening mode can reduce the proportion of invasive examinations in high-risk pregnant women,it has certain clinical significance for the screening of 21-trisomy syndrome and 18-trisomy syndrome.
维普
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