发光免疫法联合无创产前DNA检测在唐氏综合征筛查中的应用价值

Application value of luminescent immunoassay combined with non-invasive prenatal DNA detection in Down′s screening

目的探讨化学发光法、无创产前DNA检测法在唐氏综合征(DS)筛查中的临床应用价值。方法选取2017年1~12月来我院接受产前检查的120例孕妇,给予传统血清检查,比较传统血清检查、发光免疫法联合无创产前DNA检测在DS筛查中的诊断准确率。结果120例中,颈项透明层(NT)异常(≥3 mm)孕妇102例,66例胎儿NT范围为3.0~4.0 mm,24例为>4.0~5.0 mm,10例为>5.0~6.0 mm,2例为>6.0 mm。全年4例终止妊娠。27例产前诊断,1~12月分别为1、1、6、1、3、6、3、0、1、3、0、2例,27例同时有其他器官异常,其中多发畸形12例,单脐动脉8例,腹裂3例,器官积液2例,心脏畸形2例。120例中,20例做羊水穿刺,1例21-三体综合征、1例18-三体综合征终止妊娠。免疫法联合无创产前DNA检测的准确率为100.00%,显著高于传统血清检查的33.33%,差异有统计学意义(P<0.05)。结论化学发光法联合无创产前DNA检测法在DS筛查可提高检出率,降低假阳性率,利用无创产前DNA检测能减少因侵入性产前诊断而导致的流产风险,通过化学发光法检测血清甲胎蛋白(AFP)可发现开放性神经管缺陷。NT增厚提示胎儿畸形、流产、死胎的风险增加。

Objective To investigate the clinical application value of chemiluminescence method and non-invasive prenatal DNA detection method in Down′s screening. Methods A total of 120 pregnant women who came to our hospital for antenatal check-up during the period from January to December 2017 were given traditional serum tests. The diagnosis was compared with traditional serum test, luminescent immunoassay combined with non-invasive prenatal DNA test in Down′s screening. Accuracy. Results Of the 120 cases, 102 cases of pregnant women with NT abnormalities in the neck (≥3 mm), 66 cases of fetal NT ranged from 3.0 to 4.0 mm, 24 cases of >4.0 to 5.0 mm, 10 cases of >5.0 to 6.0 mm, and 2 cases were >6.0 mm. 4 cases were terminated in the whole year. 27 cases of prenatal diagnosis, 1, 1, 6, 1, 3, 6, 3, 0, 1, 3, 0, 2 cases, 27 cases from January to December. There were other organ abnormalities, including 12 cases of multiple malformations, 8 cases of single umbilical artery, 3 cases of abdominal fissure, 2 cases of organ effusion, and 2 cases of cardiac malformation. Of the 120 cases, 20 were amniocentesis, 1 was 21-trisomy, and 1 was 18-trisomy terminate pregnancy. The accuracy of immunization combined with non-invasive prenatal DNA testing was 100.00%, which was significantly higher than that of traditional serum test (33.33%), and the difference was statistically significant (P<0.05). Conclusion Chemiluminescence combined with non-invasive prenatal DNA testing can improve the detection rate and reduce the false positive rate in Down′s screening. The use of non-invasive prenatal DNA testing can reduce the risk of miscarriage associated with abortion caused by invasive prenatal diagnosis. Open neural tube defects can be detected by chemiluminescence by detecting serum alpha-fetoprotein (AFP). NT thickening suggests an increased risk of fetal malformation, miscarriage, and stillbirth.