Introduction. To explore the clinical value of noninvasive prenatal testing (NIPT) in screening the chromosomal abnormalities of the fetus in the elderly pregnant women. Materials and Methods. Between January 2020 and December 2021, 1949 elderly pregnant women underwent NIPT in our hospital. At the same time, 236 elderly pregnant women received invasive prenatal diagnosis, and the pregnancy outcomes were followed-up. Results. When NIPT was used for prenatal screening of fetal chromosomal aneuploidy, its diagnostic coincidence rate for trisomy 21 was the highest, with a coincidence rate of 90.00%, and the diagnostic coincidence rate for other chromosomal abnormalities was the lowest, only 22.22%. The sensitivity, specificity, positive predictive rate, and negative predictive rate for T21 by NIPT were 100%, 99.97%, 94.28%, and 100%; for T18 were 100%, 99.92%, 72.22%, and 100%, respectively; and for T13 were 100%, 99.95%, 50%, and 100%, respectively. Patients with high risks according to NIPT results further received invasive prenatal diagnosis, and 18 cases were excluded from the follow-up. For the remaining 1933 cases in the NIPT group, there was an incidence of 2.28% of adverse pregnancy outcomes. For the remaining 234 cases in the Amniocentesis group, there was an incidence of 1.28% of adverse pregnancy outcomes. There was no significant difference between the two groups (). The diagnostic rate of fetal chromosomal abnormalities in pregnant women under 40 years old was about 0.39-0.79%; however, the risk for people over 40 is relatively high at 1.32-4.44%. Conclusion. The noninvasive prenatal screening of fetal DNA in the second trimester of pregnancy for elderly pregnant women has high application value in the prediction of pregnancy outcome. The high risk of pregnancy can be determined by detecting trisomy 21, 18, and 13 syndromes, and the probability of adverse pregnancy outcome increases.

中文翻译：

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无创产前检测筛查高龄孕妇胎儿染色体异常的临床价值研究


介绍。探讨无创产前检测（NIPT）对高龄孕妇胎儿染色体异常筛查的临床价值。材料和方法。 2020年1月至2021年12月期间，1949名高龄孕妇在我院接受了NIPT。同时，对236名高龄孕妇进行了侵入性产前诊断，并对妊娠结局进行了随访。结果。 NIPT用于胎儿染色体非整倍体产前筛查时，其对21三体的诊断符合率最高，符合率为90.00%，对其他染色体异常的诊断符合率最低，仅为22.22%。 NIPT对T21的敏感性、特异性、阳性预测率和阴性预测率分别为100%、99.97%、94.28%和100%； T18 分别为 100%、99.92%、72.22% 和 100%； T13 的成功率分别为 100%、99.95%、50% 和 100%。根据NIPT结果为高危患者进一步接受侵入性产前诊断，18例被排除在随访之外。 NIPT组其余1933例中，不良妊娠结局发生率为2.28%。羊膜穿刺术组其余234例中，不良妊娠结局发生率为1.28%。两组之间没有显着差异（）。 40岁以下孕妇胎儿染色体异常的诊断率约为0.39-0.79%；然而，40岁以上人群的风险相对较高，为1.32-4。44%。结论。高龄孕妇孕中期胎儿DNA无创产前筛查在预测妊娠结局方面具有较高的应用价值。通过检测21三体、18三体、13三体综合征可以判断妊娠风险高，不良妊娠结局的概率增加。