胎儿染色体异常血清学筛查与无创DNA检测的有效性及其可行性分析

Validity and Feasibility Analysis of Serum Chromosomal Abnormal Serological Screening and Noninvasive DNA Detection

目的探讨产前胎儿染色体异常诊断中血清学筛查与无创DNA检测的有效性及其可行性。方法选取2016年5月-2018年5月该院收治的接受血清学筛查的1 500名孕妇,并同期对其进行无创DNA检测,针对高危孕妇采用羊水穿刺进行进一步确认,对两种检测方法均为阴性者采用电话随访,了解其妊娠结局。结果血清学筛查检出率为13.7%,准确率88.1%,无创DNA检测检出率为9.8%,准确率92.5%,两种联合检测检出率为5.2%,准确率97.9%;联合筛查灵敏度以及特异度明显高于血清学筛查和无创DNA检测(P<0.05),无创DNA检测灵敏度以及特异度明显高于血清学筛查(P<0.05);不同年龄段染色体异常检出率存在明显差异,且年龄越高出现染色体异常的概率越高(P<0.05)。结论高龄产妇会增加染色体异常的发生率,与血清学筛查相比,无创DNA具有更高的特异性,但是仍存在检测误差,针对高危孕妇建议其进行羊水穿刺,从而更好地为产妇提供产前检测方案,减少不良妊娠,提高人口素质。

Objective To investigate the effectiveness and feasibility of serological screening and non-invasive DNA detection in the diagnosis of prenatal fetal chromosomal abnormalities. Methods A total of 1500 pregnant women who were admitted to the hospital from May 2016 to May 2018 for serological screening were enrolled in this study. Noninvasive DNA testing was performed in the same period. The high-risk pregnant women were further confirmed by amniocentesis. Telephone follow-up for negative patients to understand their pregnancy outcomes. Results The detection rate of serological screening was 13.7%, the accuracy rate was 88.1%, the detection rate of non-invasive DNA detection was 9.8%, the accuracy rate was 92.5%, the detection rate of the two combined tests was 5.2%, and the accuracy rate was 97.9%. Sensitivity and specificity were significantly higher than serological screening and non-invasive DNA detection(P<0.05). The sensitivity and specificity of non-invasive DNA detection were significantly higher than serological screening(P<0.05). The detection rate of chromosomal abnormalities in different age groups There were significant differences, and the higher the age, the higher the probability of chromosomal abnormalities(P<0.05). Conclusion Older women will increase the incidence of chromosomal abnormalities. Compared with serological screening, non-invasive DNA has higher specificity, but there are still detection errors. It is recommended for high-risk pregnant women to perform amniocentesis, so as to better provide maternal prenatal testing program to reduce adverse pregnancy and improve the quality of the population.