Application of combination of prenatal serological quadruple screening and NIPT birth screening mode in fetal chromosome screening

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.