摘要
目的评价无创产前检测(NIPT)在胎儿产前诊断中报告染色体异常时其结果的可信程度。方法收集2016年11月至2019年8月期间行NIPT检测的阳性样本78例,所有孕妇均经羊膜腔穿刺或胎儿脐静脉穿刺,进行胎儿染色体核型及全基因组单核苷酸多态性微阵列芯片(SNP-array)分析来验证NIPT的结果。结果78例NIPT检测阳性样本中,21-三体高风险23例,18-三体高风险14例,未检出13-三体,另检出性染色体非整倍体高风险5例,其他拷贝数变异36例。对这些阳性样本进行胎儿染色体核型及全基因组SNP-array分析,结果确诊有临床意义的病例48例,包括21-三体22例,18-三体11例,性染色体异常2例,杂合性缺失1例,拷贝数变异12例,有30例样本未检出有临床意义的染色体异常,假阳性率为38.46%(30/78)。结论目前的无创产前检测技术在检测染色体异常时仍有较高的假阳性率,需要借助全基因组SNP-array等有创产前诊断技术来提高胎儿产前诊断的准确性。
Objective To evaluate the reliability of noninvasive prenatal testing(NIPT)in reporting chromosomal abnormalities in prenatal diagnosis.Methods Seventy-eight positive samples of NIPT from November 2016 to August 2019 were collected.All pregnant women underwent amniocentesis or fet al umbilical vein puncture.Fet al karyotype and whole genome single nucleotide polymorphism microarray analysis(SNP-array)were performed to verify the results of NIPT.Results Among the 78 NIPT positive samples,23 were high risk of trisomy 21,14 were high risk of trisomy 18,trisomy 13 was not detected,5 were high risk of a sex chromosome aneuploidy,and 36 were other copy number variation(CNVs).The positive samples were analyzed by chromosome karyotype and genome-wide SNP-array,and 48 cases were confirmed to be clinically significant.There were 22 cases of trisomy 21,11 cases of trisomy 18,2 cases of sex chromosome abnormality,1 case of heterozygosity deletion and 12 cases of copy number variation.No clinically significant chromosomal abnormalities were detected in 30 samples,with a high false-positive rate of 38.46%(30/78).Conclusion Currently,non-invasive prenatal testing technology still has a high false-positive rate in detecting chromosomal abnormalities,so it is necessary to improve the accuracy of prenatal diagnosis utilizing invasive prenatal diagnosis technology such as genome-wide SNP-array.
作者
黄艳
王杰
郭志远
侯丽青
冀小平
王晓华
HUANG Yan;WANG Jie;GUO Zhiyuan;HOU Liqing;JI Xiaoping;WANG Xiaohua(Department of Genetic Eugenics,Inner Mongolia Maternal and Child Care Hospital,Hohhot,Inner Mongolia 010060,China)
出处
《国际检验医学杂志》
CAS
2021年第S01期27-30,共4页
International Journal of Laboratory Medicine
基金
内蒙古自治区科技计划项目(2019GG103)
内蒙古自治区自然科学基金(2019MS08006,2018BS08008)。
关键词
无创产前检测
产前诊断
单核苷酸多态性芯片
拷贝数变异
NIPT(noninvasive prenatal testing)
prenatal diagnosis
SNP-array(Single nucleotide polymorphism microarray chip)
CNVs(copy number variations)
