探讨孕期无创产前基因检测应用价值分析

Abstract: Objective To evaluate the application value of non-invasive prenatal genetic testing (NIPT) in prenatal screening during pregnancy. Methods A total of 1,930 pregnant women were selected as research subjects and divided into four groups: 65 cases with high risk of serological screening, 155 cases with marginal risk of serological screening, 307 cases of elderly pregnant women, and 1,403 cases of other voluntary testing. All of them underwent non-invasive genetic testing, and the main indicators were observed, including the NIPT detection situation of 1,930 cases and the correlation between high risk of NIPT detection and the prenatal diagnosis and follow-up results. Results Among the 1,930 cases tested by NIPT, 16 cases were identified as high-risk. Among them, 3 cases were high-risk for trisomy 21, 2 cases for trisomy 18, and 11 cases for sex chromosome abnormalities. After analyzing the 1,930 pregnant women through amniocentesis, the accuracy, sensitivity, and specificity of NIPT in detecting trisomy 21, trisomy 18, and trisomy 13 high risks were all 100.00%, while the accuracy and specificity of non-integer sex chromosome high risks were 99.43% and the sensitivity was 100.00%. Conclusion As an important means of prenatal screening for pregnant women, NIPT has high clinical application value, can effectively improve accuracy of diagnosis, reduce the complications of invasive testing, and has a good clinical promotion prospect.