无创产前基因检测在珠海市产前诊断中的应用研究

Application of non invasive prenatal genetic testing in the prenatal diagnosis of Zhuhai city

目的评估无创产前基因检测在珠海地区产前诊断中的应用价值。方法回顾性分析2585例无创产前基因检测的结果，阳性者进一步行羊穿、脐穿染色体核型分析。结果2585例中检出高风险35例，其中21三体高风险18例，18三体高风险5例，13三体高风险1例，性染色体异常高风险11例。经羊水、脐静脉血细胞培养核型分析验证，21三体高风险中17例与核型分析相符，1例假阳性（准确率94．4％）。18三体高风险中5例均与核型分析相符（准确率100％）。13三体高风险1例与核型分析相符（准确率100％）。性染色体异常高风险中7例与核型分析相符，4例假阳性（准确率63．6％）。结论无创产前基因检测作为一种产前筛查方法，在21三体、18三体、13三体检测中具有较高的准确率，具有很高的应用价值，是一种值得推广的产前筛查方法，可作为产前诊断金标准染色体核型分析的有益补充。

Objective To evaluate the application value of noninvasive prenatal genetic testing in prenatal diagnosis in Zhuhai area. Methods A retrospective analysis of 2 585 cases of non-invasive prenatal genetic testing results, the positive subjects was further karyotype analyzed by amniocentesis and cordocentesis. Results Among the 2 585 cases in detection, high risk in 35 cases, including 18 cases of high risk for trisomy 21, 5 cases of high risk for trisomy 18, 1 case of trisomy 13 high risk, sex chromosome abnormalities in high risk in 11 cases. By amniotic fluid, umbilical cord blood cell culture and karyotype analysis and verification, trisomy 21 high risk in 17 cases and karyotype analysis of consistent, one false positive （ accurate rate was 94. 4% ）. Eighteen trisomy high risk in 5 cases were with karyotype analysis （in accordance with an accuracy rate of 100% ） trisomy 13 high risk in 1 case and karyotype analysis （in accordance with 100% accuracy）. Sex chromosome abnormally high risk in 7 cases and kary- otype analysis of match, the four false positive （63.6%）. Conclusions Noninvasive prenatal genetic testing as a prenatal screen check method, in trisomy 21, trisomy 18, trisomy 13 detection with high accuracy, with high application value, is worthy of promotion of prenatal screening methods, as the gold standard karyotype analysis of beneficial supplement.