子宫肌瘤孕妇无创产前DNA检测的结果分析

Analysis of the results in non⁃invasive prenatal DNA testing in pregnant woman with uterine myoma

目的探究子宫肌瘤对孕妇无创产前DNA检测结果的影响。方法回顾性分析中山大学附属第一医院2020年4月1日至2021年12月31日的3876例孕妇的无创产前DNA检测的结果,对比分析361例子宫肌瘤患者和同期3515名健康人群的检测结果。结果无创产前DNA检测在UM组中的阳性率为3.32%(12/361),明显高于对照组的阳性率0.68%(24/3515),差异具有统计学意义(χ^(2)=24.82,P<0.05),且UM组的假阳性率2.79%(10/359)也明显高于对照组0.31%(11/3502),差异具有统计学意义(χ^(2)=36.76,P<0.05)。NIPT在UM组中的灵敏度、阴性预测值高达100%,但特异度为97.21%(349/359)低于健康人群组的99.69%(3491/3502),且阳性预测值为16.67%(2/12),明显低于对照组的54.17%(13/24),在18号染色体和XXX中的阳性预测值低至为0;UM组的假阳性结果也是以18号染色体三体和XXX为主。结论无创产前DNA检测在子宫肌瘤孕妇的胎儿染色体非整倍体检测中具有较高的应用价值,但其存在假阳性率偏高及阳性预测值低的问题,阳性结果需结合产前诊断、临床表现进行综合判断。

Objective To explore the effect of uterine myoma(UM)on the results of non⁃invasive prenatal testing in pregnant women.Methods The results of non⁃invasive prenatal DNA testing of 3876 pregnant women in the First Affiliated Hospital of Sun Yat⁃sen University from April 1,2020 to December 31,2021 were retrospectively analyzed.The test results of 361 patients with uterine myoma and 3515 healthy people in the same period were compared and analyzed.Results The positive rate of non⁃invasive prenatal testing in the UM group was 3.32%(12/361),which was significantly higher than that in the control group 0.68%(24/3515),and the difference was statistically significant(χ^(2)=24.82,P<0.05).The false positive rate of 2.79%(10/359)in the UM group was significantly higher than that in the control group 0.31%(11/3502),and the difference was statistically significant(χ^(2)=36.76,P<0.05).The sensitivity and negative predictive value of NIPT in the UM group were as high as 100%,but the specificity was 97.21%(349/359)lower than the 99.69%(3491/3502)of the healthy group,and the positive predictive value was 16.67%(2/12),which was significantly lower than 54.17%(13/24)of the control group.The positive predictive value in chromosome 18 and XXX was as low as 0;the false positive results in the UM group were mainly trisomy 18 and XXX.Conclusion Non⁃invasive prenatal DNA detection has high application value in fetal chromosomal aneuploidy detection in pregnant women with uterine myoma.However,it has the problems of high false positive rate and low positive predictive value.Positive results need to be comprehensively judged in combination with prenatal diagnosis and clinical manifestations.