无创基因检测在低龄与高龄孕妇中的临床应用价值比较 [中文引用][英文引用]

目的 探讨无创基因检测在不同年龄段检测效能是否一致以及在高龄人群中的临床应用价值。方法 回顾性分析了2017年1～12月在广东省妇幼保健院产前诊断中心接受NIPT筛查的10 862例单胎孕妇，分为＜35岁，35～39岁，≥40岁3组比较，对NIPT结果与染色体核型结果进行对比分析，计算并比较各年龄组的阳性预测值。结果 共检出110例NIPT高风险孕妇，其中≥40岁组检出率高于＜35岁和35～39岁组。有91例孕妇选择经产前诊断确认，其中60例NIPT结果与核型一致，31例不一致，无假阴性病例，各组筛查符合率无差别。3个年龄组对T21、T18、T13及性染色体的阳性预测值分别为＜35岁93.75%、80.00%、25%、42.42%；35～39岁组90.00%、100.00%、100.00%、50.00%；≥40岁组为87.50%、100.00%、0.00%、75.00%。结论 虽然高龄组染色体异常检出率高于低龄组，但是NIPT在高龄人群中的检测效能高，有一定的临床应用价值，对21和18-三体的筛查准确性高于13-三体和性染色体。

Objective To investigate whether the performance of NIPT is consistent in different age pregnancies and its value of clinical practice in advanced age population. Methods A retrospective analysis of 10862 single pregnancies who voluntary received NIPT in prenatal diagnosis center of the children and women hospital of Guangdong province from January to December 2017. The group was divided into three groups including＜35 years old，35～39 years old，≥40 years old, and the result of three groups was compared. Pregnancies with high risk results of NIPT received a suggestion for confirmation by karyotype, with comparing the results of NIPT and karyotype, the positive predictive value of three groups was calculated and compared. Result: the 110 pregnancies with a high risk of NIPT were detected, and the detection rate in the group of ≥40 years old was higher than that in the group ＜35 years old and 35-39 years old. Among 91 pregnancies who selected prenatal diagnosis to verify the result of NIPT, the results of NIPT were consistent with karyotype in 60 cases and inconsistent in 31 cases. There were no false negative cases, the total consistency rate in the three groups is no difference. The positive predictive value of three groups for T21、T18、T13 and sex chromosomal abnormality respectively was 93.75%、80.00%、25%、42.42% in ＜35 years old group, 90.00%、100.00%、100.00%、50.00% in 35～39 years old group, 87.50%、100.00%、0.00%、75.00% in ≥40 years old group. Conclusions Although the detection rate of numerical chromosomal abnormalities in the advanced age group is higher than that in young age group, the performance of NIPT in advanced age population is efficient, and it has certain clinical application value. The accuracy of T21 and T18 is higher than that of T13 and sex chromosomal abnormalities.