目的探讨无创产前基因检测技术在产前筛查和产前诊断临床应用中的适用性和准确性。方法对厦门市妇幼保健院11118例孕妇的无创产前基因检测结果进行回顾性分析,将孕妇分为高龄组和非高龄组,非高龄组再分为高风险A组、中风险B组和首选无创C组,对无创检测结果异常的孕妇建议进行介入性产前诊断,行胎儿染色体核型分析。结果11118例孕妇共有124例检测结果异常,检出率1.12%,其中高风险A组的检出率最高,达1.76%。最终有1 06例孕妇接受介入性产前诊断,确诊胎儿染色体异常78例,阳性预测值73.58%,其中确诊21三体47例,阳性预测值92.16%;确诊18三体11例,阳性预测值91.67%;确诊13三体4例,阳性预测值36.36%;确诊性染色体异常16例,阳性预测值59.26%。结论对于高龄孕妇和唐氏筛查高风险或临界风险的孕妇而言,无创产前基因检测技术具有较高的临床实际应用价值,可作为传统产前诊断技术的有效辅助手段。但存在假阳性率,必须通过胎儿染色体核型加以验证。 Objective To investigate the applicability and accuracy of non-invasive prenatal genetic testing in prenatal screening and prenatal diagnosis. Methods The results of non-invasive prenatal genetic testing of 11 118 pregnant women in Xiamen MCH hospital were retrospectively analyzed. The pregnant women were divided into the elderly group and the non-elderly group. The non-elderly group was further divided into high-risk group A, middle-risk group B and the first choice Non-invasive C group, non-invasive detection of abnormal results in pregnant women recommended interventional prenatal diagnosis of fetal chromosomal karyotype analysis. Results A total of 124 cases of 11 118 pregnant women had abnormal results, with a detection rate of 1.12%. The highest detection rate was 1.76% in high risk group A. Finally, 106 pregnant women received interventional prenatal diagnosis, and 78 cases of fetal chromosomal abnormalities were diagnosed. The positive predictive value was 73.58%. Among them, 47 cases were confirmed trisomy 21 with a positive predictive value of 92.16%. Eleven cases of 18 trisomy 18 were confirmed with positive predictive value 91.67%. Four cases of 13 trisomy were diagnosed, with a positive predictive value of 36.36%. There were 16 confirmed cases of chromosomal abnormalities with a positive predictive value of 59.26%. Conclusion For pregnant women and Down’s screening of high-risk or critical risk of pregnant women, non-invasive prenatal genetic testing technology has a high clinical value, which can be used as an effective adjunct to traditional prenatal diagnostic techniques. However, there is a false positive rate, which must be verified by fetal karyotype.