Investigation and analysis of the noninvasive DNA prenatal testing in 2 932 pregnant women in Huaibei area

ObjectiveTo analyze the results of noninvasive DNA prenatal testing(NIPT) in 2 932 pregnant women in Huaibei area, and its related influencing factors.

MethodsThe high-throughput sequencing method was used to analyze the chromosome of fetal free DNA.The positive results were confirmed by amniotic fluid puncture.The chromosome microarray analysis in fetus with copy number variation(CNV) was performed.

ResultsThe overall high risk detection rate of NIPT in 2 932 pregnant women was 1.43%(42/2 932).Among different ages pregnant women, the differences of the trisomy syndrome, sex chromosome abnormalities and total high risk detection rate were statistically significant(P < 0.05 to P < 0.01), and the difference of the CNV was not statistically significant(P>0.05).There was no statistical significance in the detection rates of trisomy syndrome and sex chromosome abnormality between rural and urban pregnant women(P>0.05).The detection rates of CNV and total high risk in rural pregnant women were higher than those in urban pregnant women(P < 0.05 and P < 0.01).

ConclusionsIn Huaibei area, the main NIPT is trisomy syndrome, abnormalities and the risks of sex chromosome and CNV are relatively high.