吉林省7987例孕妇NIPT-plus的结果分析

Results of NIPT-plus in 7987 pregnant women in Jilin province

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。

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.