【摘要】 目的 分析扩展性无创胎儿染色体非整倍体产前基因检测（NIPT-plus）、G显带核型分析、染色体微阵列分析（CMA）在产前诊断中的意义，探讨NIPT-plus对于诊断胎儿染色体非整倍体的价值。方法 选择2020年1月至2022年6月吉林省地区7987例检测NIPT-plus的孕妇，回顾分析NIPT-plus检测结果提示异常的162例孕妇数据，比较NIPT-plus和介入性产前诊断结果一致性。随访妊娠结局以及胎儿出生后的健康状况。结果 筛查出的162例NIPT-plus高风险中共130例接受羊水穿刺，最终确诊26例21-三体、4例18-三体、8例性染色体异常、18例CNVs异常。NIPT-plus筛查整体阳性预测值为43.1%。高风险随访率可达100%，低风险有效随访率达90.65%。低风险中有一例假阴性为威廉姆斯综合征。结论 NIPT-plus是一种高效的筛查手段，对胎儿染色体非整倍体的筛查具有重要的意义，但仍需行介入性产前诊断。更多还原

【Abstract】 Objective To analysis the clinical significance of non-invasive prenatal testing(NIPT-plus), G-banding karyotype analysis and chromosome microarray analysis(CMA) in prenatal diagnosisand and to explore the value of NIPT-plus in the diagnosis of fetal chromosome aneuploidy. Methods A total of 7987 pregnant women who were received NIPT-plus from January 2020 to June 2022 in Jilin province were selected. The data of 162 pregnant women with abnormal results of NIPT-plus were retrospectively analyzed. The concordance between NIPT-plus and interventional prenatal diagnosis was compared. And pay a follow-up visit of pregnancy outcomes and fetal health after birth. Results Eventually, 162 high-risk cases were screened for NIPT-plus, and 130 cases were performed in amniocentesis. Amniocentesis confirmed 26 cases of trisomy 21, 4 cases of trisomy 18, 8 cases of chromosome abnormality and 18 cases of abnormal CNVs. The overall positive predictive value of NIPT-plus screening was 43.1%. The high-risk follow-up rate was 100%, and the low-risk follow-up rate was 90.65%. There was one false negative at low-risk, it was Williams syndrome. Conclusion NIPT-plus is an efficient screening method, which is of great significance in the screening of fetal chromosome aneuploidy. However, interventional prenatal diagnosis is still needed.更多还原