Non-invasive DNA prenatal testing status among pregnant women in a specific region of Henan Province:A 2021-2022 study
Objective To evaluate the prevalence and outcomes of non-invasive DNA prenatal testing among pregnant women in a specific region of Henan Province,providing insights to inform rational prenatal diagnosis strategies.Methods We conducted a retrospective analysis of 533 pregnant women who received non-invasive DNA prenatal testing from August 2021 to September 2022.Results The abnormal detection rate was 2.63％(14 out of 533).Of the 14 cases,9 received telephone follow-up and amniotic fluid puncture,confirming abnormalities in 4 cases:2 with trisomy 21,1 with abnormal chromosome 16,and 1 with an abnormal sex chromosome,yielding a confirmation rate of 44.44％(4 out of 9).174(32.64％)participants were over 35 years of age at their expected delivery period.The primary reason for pregnant women in their mid-trimester of pregnancy opting for non-invasive DNA prenatal screening was their advanced age and abnormal Down's test results,accounting for 32.64％(174 cases)and 32.46％(173 cases),respectively.Voluntary applications constituted only 14.07％(75 cases).The overall successful follow-up rate of non-invasive DNA prenatal screening was 64.73％(345 out of 533).Among low-risk patients,5.20％(27 cases)refused to follow up,which was lower than 1429％(2 cases)among those with abnormal results,but the difference was not statistically significant(P＞0.05).Conclusions Advanced maternal age and abnormal prenatal screening results are the main drivers for non-invasive DNA prena-tal screening uptake in the region.However,the voluntary application rate is low,suggesting a need to enhance awareness about the important of non-invasive DNA testing and amniocentesis in preventing birth defects among the general pregnant population.
Pregnant womenNon-invasive DNA prenatal screeningInvestigation of current situation
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