ObjectiveTo explore the application value of combination of prenatal serological quadruple screening and non-invasive prenatal testing (NIPT) birth screening mode in fetal chromosome screening.

MethodsA total of 11 796 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.

ResultsDown's screening screened out 721 high-risk pregnant women and 1 455 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 1 455 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%.

ConclusionsCombination 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.