NIPT检测罕见常染色体非整倍体的临床意义  

Clinical significance of detecting rare autosomal aneuploidies by NIPT

作　　者：胡亮[1] 刘金星 温丽娟[1] 裴元元[1] 罗琪 魏凤香[1] Hu Liang;Liu Jinxijng;Wen Lijuan;Pei Yuanyuan;Luo Qi;Wei fengxiang(Shenzhen Longgang Maternal and Child Health Hospital,Guangdong Shenzhen 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院中心实验室,广东深圳518172

出　　处：《中国产前诊断杂志（电子版）》2022年第3期31-35,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：深圳市龙岗区医疗卫生科技计划项目(LGKCYLWS2020149,LGKCYLWS2020111);深圳市龙岗区出生缺陷预防重点实验室项目(LGKCZSYS2018000010)。

摘　　要：目的探讨无创产前检测(noninvasive prenatal testing,NIPT)中罕见常染色体非整倍体(rare autosomal aneuploidies,RAAs)的临床意义,为NIPT临床应用提供参考。方法以2017年11月至2020年10月进行NIPT的78295例单胎妊娠孕妇为研究对象。NIPT提示RAAs者,通过染色体核型分析及染色体微阵列(chromosome microarray,CMA)进一步产前诊断。统计分析NIPT检测RAAs的阳性率、阳性预测值以及孕妇年龄与孕周对阳性率的影响。结果78295例受检孕妇中,检出RAAs 238例,发生率为0.30%。常染色体三体,主要分布于7号及8号染色体,常染色体单体主要分布于16号染色体。孕妇年龄与孕周在RAAs组与非RAAs组的差异无统计学意义。116例进行了产前诊断的孕妇最终确诊5例,其中1例为7号三体嵌合,2例为9号三体嵌合,1例为15号三体嵌合,1例为16号染色体部分重复。NIPT检测RAAs的阳性预测值为5.95%。结论NIPT提示的RAAs临床意义十分有限,在遗传咨询中应结合临床实际向孕妇明确后续产前诊断的必要性,避免不必要的心理负担及有创性穿刺。Objective To investigate the clinical significance of rare autosomal aneuploidies(RAAs)in noninvasive prenatal testing(NIPT),and to provide reference for the clinical application of NIPT.Methods 78295 singleton pregnant women who underwent NIPT from November 2017 to October 2020 were selected as the research objects.If NIPT indicates RAAs,karyotype analysis and chromosome microarray(CMA)are recommended for further prenatal diagnosis.The positive rate,positive predictive value and the influence of pregnant women’s age and gestational weeks on the positive rateof NIPT in detecting RAAs were statistically analyzed.Results Of 78295 pregnant women,238 cases of RAAs were detected,the incidence was 0.30%.The autosomal trisomy is mainly distributed on chromosome 7 and chromosome 8,and the autosomal monomer is mainly distributed on chromosome 16.There was no significant difference between the pregnant age and the gestational week between the RAAs group and the non RAAs group.116 pregnant women who had prenatal diagnosis were finally diagnosed in 5 cases,including 1 case of trisomy 7 chimera,2 cases of trisomy 9chimera,1 case of trisomy 15 chimeraand 1 case of partial duplication of chromosome 16.The positive predictive value of NIPT was 5.95%.Conclusion The clinical significance of RAAs suggested by NIPT is very limited.In genetic counseling,we should make clear to pregnant women the necessity of follow-up prenatal diagnosis in combination with clinical practice,so as to avoid unnecessary psychological burden and invasive puncture.

关 键 词：无创产前检测 罕见常染色体非整倍体 阳性预测值 

分 类 号：R714.55[医药卫生—妇产科学]