扩展性无创产前筛查技术筛查额外检测信息的初步应用分析

Preliminary application analysis of expanded non-invasive prenatal testing technology for screening additional detection information

目的探讨扩展性无创产前筛查(NIPT-plus)报告范围外额外检测信息的临床筛查效能。方法回顾性分析2021年10月至2022年7月在西北妇女儿童医院医学遗传中心接受NIPT-plus筛查的5473例孕妇的资料。统计、分析NIPT-plus报告范围外额外检测信息的检测情况,通过羊水细胞染色体拷贝数变异测序(CNV-seq)进行结果验证,电话随访妊娠结局。结果NIPT-plus额外检测信息提示其他染色体异常73例,额外结果阳性率1.33%(73/5473),包括染色体缺失14例,染色体重复59例。48例经过羊水细胞CNV-seq检测验证,其中NIPT-plus筛查出的额外阳性结果与CNV-seq结果较一致23例,阳性符合率47.92%(23/48);不一致25例,16例未检测到NIPT-plus筛查出的额外阳性结果,9例检测到与NIPT-plus筛查出的额外阳性结果不同的其他染色体拷贝数变异(CNV),阳性不符合率52.08%(25/48)。结论NIPT-plus额外检测信息在产前诊断中具有一定的临床价值,但筛查效能有限,NIPT-plus目前仍作为筛查手段,筛查结果阳性则必须进行介入性产前诊断,并结合产前诊断结果与随访等对孕妇和胎儿进行全面的遗传咨询和风险评估。

Objective To explore the clinical screening efficacy of additional detection information outside the scope of expanded non-invasive prenatal testing(NIPT-plus)report.Methods The data of 5473 pregnant women who received NIPT-plus screening in the center of medical genetics of Northwest Women's and Children's Hospital from October 2021 to July 2022 were retrospectively analyzed.The detection of additional detection information outside the scope of NIPT-plus report was statistically analyzed.The results were verified by chromosome copy number variation sequencing(CNV-seq)of amniotic fluid cells,and the pregnancy outcome was followed up by telephone.Results The additional detection information of NIPT-plus suggested 73 cases of other chromosomal abnormalities,and the positive rate of additional results was 1.33%(73/5473),including 14 cases of chromosome deletion and 59 cases of chromosome duplication.Forty-eight cases were verified by CNV-seq detection of amniotic fluid cells.Among them,23 cases of additional positive results screened by NIPT-plus were consistent with CNV-seq results,and the positive coincidence rate was 47.92%(23/48);25 cases were inconsistent,16 cases did not detect additional positive results screened by NIPT-plus,and 9 cases detected other chromosome copy number variation(CNV)different from the additional positive results screened by NIPT-plus,the positive non-conformity rate was 52.08%(25/48).Conclusion NIPT-plus additional detection information has some clinical value in prenatal diagnosis,but the screening efficacy is limited,NIPT-plus is still used as a screening method,if the screening result is positive,interventional prenatal diagnosis must be performed,and the comprehensive genetic counseling and risk assessment of pregnant women and fetus should be conducted in conjunction with prenatal diagnosis results and follow-up.