摘要
目的探讨无创DNA产前检测技术(non-invasive prenatal testing,NIPT)在筛查胎儿染色体异常的临床应用价值。方法选择2017年02月至2019年02月在钦州市妇幼保健院接受NIPT检测的3133例孕妇作为研究对象,对NIPT结果高风险的孕妇建议行羊膜腔穿刺术及胎儿染色体核型检测,部分孕妇同时行胎儿染色体拷贝数变异(copy number variations,CNVs)检测,并对NIPT与羊水细胞染色体分析的符合情况进行分析。结果3133例孕妇中NIPT提示高风险39例,其中29例孕妇进行胎儿染色体核型检测,17例同时行染色体CNVs检测,经羊水染色体核型检测确诊16例胎儿染色体异常,经染色体CNVs检测额外提示2例染色体的其他异常;NIPT高风险行羊水染色体CNVs检测可明显提高染色体异常的检出率;各类NIPT指征中,高龄妊娠组阳性预测值最高。结论NIPT可明显提高胎儿染色体异常的检出率,是一种无创、准确性高的产前筛查,但不能完全替代介入性产前诊断,需严格掌握NIPT的适应指征、局限性及结果的咨询,此外,染色体拷贝数变异检测可明显增加胎儿染色体异常的检出率,对高风险的孕妇行介入性产前诊断查胎儿染色体核型同时建议行染色体拷贝数变异检测。
Objective To explore the clinical value of non-invasive DNA prenatal test(NIPT)in screening fetal chromosomal abnormalities.Methods In this study,3133 pregnant women who received NIPT test in Qinzhou maternal and child health care hospital from February 2017 to February 2019 were selected.Amniocentesis and fetal chromosome karyotype tests were recommended for pregnant women with high risk of NIPT results.Some pregnant women were simultaneously tested for fetal chromosome copy number variation(CNVs).The coincidence of NIPT and amniotic cell chromosome analysis was analyzed.Results Among the 3133 pregnant women,NIPT indicated a high risk in 39 cases,of which 29 cases were examined for fetal chromosome karyotype,17 cases were examined for chromosome CNVs at the same time,16 cases of fetal chromosome abnormalities were confirmed by amniotic fluid chromosome karyotype,and 2 cases of other chromosome abnormalities were indicated by chromosome CNVs;NIPT high risk of amniotic fluid chromosome CNVs examination could significantly improve the detection of chromosome abnormalities.Among all kinds of NIPT indications,the positive predictive value of the elderly pregnancy group was the highest.Conclusion NIPT can significantly improve the detection rate of fetal chromosomal abnormalities.It is a noninvasive and accurate prenatal screening,but it cannot completely replace the interventional prenatal diagnosis.It is necessary to strictly master NIPT's indications,limitations and results of consultation.In addition,the detection of chromosomal copy number variation can significantly increase the detection rate of fetal chromosomal abnormalities,and interventional delivery can be performed for high-risk pregnant women.At the same time,the detection of copy number variation is recommended.
作者
黄芬芳
李琼飞
张兰兰
黄艳华
蔡海延
Huang Fenfang;Li Qiongfei;Zhang Lanlan;Huang Yanhua;Cai Haiyan(Department of Medical Genetics and Prenatal Diagnosis,Qinzhou Maternal and Child Health Centre,Qinzhou 535000,China)
出处
《国际遗传学杂志》
CAS
2020年第3期135-139,共5页
International Journal of Genetics
关键词
无创DNA产前检测
介入性产前诊断
胎儿染色体异常
染色体拷贝数变异
高龄妊娠
Non-invasive prenatal test
Interventional prenatal diagnosis
Fetal chromosomal abnormality
Copy number variation
Advanced pregnancy
作者简介
通信作者:黄芬芳,Email:huang-guoxing@163.com。
