扩展性无创产前检测在胎儿染色体异常筛查中的应用价值

Application value of extended non-invasive prenatal testing in screening of fetal chromosomal abnormalities

目的:分析扩展性无创产前检测(NIPT-plus)在胎儿染色体异常筛查中的应用价值。方法:选取2021年1月至2023年3月于该院行胎儿染色体疾病筛查的4473名孕妇为研究对象,均进行NIPT-plus检测,对NIPT-plus结果提示胎儿染色体异常且自愿进行羊水染色体核型分析的孕妇于超声引导下行羊膜腔穿刺,采用Kappa检验分析NIPT-plus结果与羊水染色体核型分析结果的一致性。结果:4473名孕妇中胎儿染色体异常88名,其中21-三体综合征(T21)17名、18-三体综合征(T18)6名、13-三体综合征(T13)1名、性染色体数目异常23名、染色体微缺失/微重复25名、其他常染色体数目异常16名。NIPT-plus检出88名胎儿染色体异常孕妇中67名自愿进行羊水染色体核型分析,共检出染色体异常37名,其中检出T21 9名、T18 3名、T13 0名,性染色体数目异常8名,染色体微缺失/微重复8名,其他常染色体数目异常9名。经Kappa一致性检验,NIPT-Plus检测T21的一致性很好(Kappa值=0.939),检测T18的一致性较好(Kappa值=0.849),检测性染色体数目异常、染色体微缺失/微重复、其他常染色体数目异常的一致性一般(Kappa值=0.458、0.539、0.584),检测T13的一致性较差(Kappa值=0.000)。结论:NIPT-Plus在T21、T18胎儿染色体异常筛查中均具有较高的应用价值。

Objective:To analyze application value of extended non-invasive prenatal testing in screening of fetal chromosomal abnormalities.Methods:4473 pregnant women who underwent fetal chromosomal disease screening in the hospital from January 2021 to March 2023 were selected as the study subjects.All patients underwent NIPT-plus examination.Ultrasound-guided amniocentesis was performed on the pregnant women with NIPT-plus results suggesting fetal chromosomal abnormalities and voluntary amnioticfluid karyotype analysis.Kappa test was used to analyze the consistency between NIPT-plus results and amnioticfluid karyotype analysis results.Results:There were 88 cases with fetal chromosomal abnormalities in the 4473 pregnant women,including 17 cases of 21-trisomy syndrome(T21),6 cases of 18-trisomy syndrome(T18),1 case of 13-trisomy syndrome(T13),23 cases of sex chromosome number abnormality,25 cases of chromosome microdeletion/microduplication,and 16 cases of other autosomal number abnormalities.NIPT-plus detected 88 pregnant women with fetal chromosomal abnormalities.Among them,67 pregnant women volunteered for amnioticfluid karyotype analysis,and 37 cases with chromosomal abnormalities were detected,including 9 case of T21,3 case of T18,and 0 case of T13,8 cases of sex chromosome numerical abnormalities,8 cases of chromosome microdeletion/microduplication,and 9 cases of other autosomal numerical abnormalities.Kappa consistency test showed that the consistency of T21 detected by NIPT-Plus was very good(Kappa value=0.939).The consistency of T18 detected by NIPT-Plus was good(Kappa value=0.849).The consistency of sex chromosome number abnormality,chromosome microdeletion/microduplication and other autosomal number abnormalities detected by NIPT-Plus was fair(Kappa value=0.458,0.539,0.584).The consistency of T13 detected by NIPT-Plus was poor(Kappa value=0.000).Conclusions:NIPT-Plus has a good application value in the screening of fetal chromosomal abnormalities at T21 and T18.