日照地区1068例无创性产前胎儿染色体非整倍体检测结果分析

Analysis of 1068 Pregnant Women Undergoing Non-Invasive Prenatal Testing for Fetal Chromosome Aneuploidy in Rizhao Area

摘要: 目的：评价无创产前筛查检测(non-invasive prenatal testing, NIPT)对35岁以下的孕妇进行胎儿染色体非整倍体筛查的临床价值。方法：收集2017年1月至2021年1月期间在山东日照地区产检、年龄 < 35岁，且完成了孕中期产前血清生化三联筛查(PTC)、NIPT的孕妇临床资料，共计1068例。对PTC和NIPT结果均显示高风险的孕妇进行胎儿染色体核型分析，并以核型分析结果为金标准，比较NIPT与PTC在胎儿染色体非整倍体疾病筛查的灵敏度、特异度、阳性预测率、阴性预测率。结果：1068名孕妇经血清生化三联筛查检出胎儿染色体三体高风险212例(19.85%)，其中T21高风险162例(15.17%)，T18高风险39例(3.65%)，AFP单项MoM值异常12例(1.12%)。NIPT检出高风险36例(3.37%)。PTC及NIPT检出为高风险的孕妇行羊水穿刺术胎儿染色体核型分析，显示T21为28例，T18为6例，T13为1例。PTC检测染色体非整倍体的总体灵敏度和特异度分别是100%，82.87%，阳性预测率和阴性预测率分别为16.51%，100%。NIPT检测染色体非整倍体的总体灵敏度和特异度分别是100%，99.90%，阳性预测率和阴性预测率分别为97.22%，100%。PTC检测T21的特异度为87.12%，而NIPT检测T21的特异度为99.90%。结论：NIPT应用于 < 35岁普通孕妇的胎儿染色体非整倍体筛查具有风险低、高灵敏度、高特异度的优势，值得临床推广应用。

Abstract: Objective: To evaluate the clinical value of non-invasive prenatal testing (NIPT) for fetal chromosome aneuploidy screening in pregnant women under 35 years old. Methods: A total of 1068 cases of pregnant women with prenatal serum biochemical triple screening (PTC) and NIPT were collected from January 2017 to January 2021 in the Rizhao region of Shandong Province, age < 35 years old. The karyotype analysis was carried out as the gold standard on pregnant women, whose results of PTC and NIPT showed high-risks. Compare the sensitivity, specificity, positive prediction rate and negative prediction of NIPT and PTC screening for fetal chromosome aneuploidy. Results: 212 cases (19.85%) with a high risk of chromosome trisomy were detected in 1068 pregnant women by PTC, including 162 cases (15.17%) with high risk of T21, 39 cases (3.65%) with high risk of T18, and abnormal AFP single MoM value 12 cases (1.12%). NIPT detected 36 high-risk cases (3.37%). Karyotype analysis of pregnant women undergoing amniocentesis in high-risk cases detected by PTC or NIPT showed that T21 was in 28 cases, T18 was in 6 cases, and T13 was in 1 case. The overall sensitivity and specificity of PTC for detecting chromosomal aneuploidy are 100% and 82.87%, respectively, and the positive prediction rate and negative prediction rate are 16.51% and 100%, respectively. The overall sensitivity and specificity of NIPT for detecting chromosomal aneuploidy are 100% and 99.90%, respectively, and the positive prediction rate and negative prediction rate are 97.22% and 100%, respectively. The specificity of T21 detected by PTC is 87.12%, and the specificity of T21 detected by NIPT is 99.90%. Conclusion: NIPT technology is used to screen fetal chromosomal aneuploidy in ordinary pregnant women younger than 35 years old. NIPT has low risk, high sensitivity, high specificity and is worthy of clinical application.