摘要
目的探讨无创DNA产前检测(NIPT)对高龄孕妇胎儿染色体非整倍体疾病及染色体拷贝数变异(CNV)筛查的临床价值。方法纳入无禁忌证的自愿来空军军医大学唐都医院进行NIPT检测的单胎孕妇作为研究对象。对NIPT高风险孕妇建议行羊水穿刺,采用染色体核型分析和羊水细胞染色体高通量测序技术进行产前诊断,计算高龄组与低龄组各染色体异常的阳性预测值(PPV)、灵敏度和特异度,对比高龄组与低龄组各染色体异常的PPV有无统计学差异。对NIPT低风险的孕妇随访至妊娠结束。结果NIPT检测高风险孕妇177例(1.40%)。低龄组和高龄组无创DNA检测21三体的PPV分别是57.89%,83.33%;低龄组和高龄组18三体的PPV分别是40%,50%;低龄组和高龄组13三体的PPV分别是50%,0;低龄组和高龄组性染色体非整倍体异常的PPV分别是28.57%,37.5%;低龄组和高龄组CNV的PPV分别是41.18%,25%,且各染色体异常的PPV在高龄组和低龄组之间无统计学差异,且灵敏度、特异度较高。结论NIPT作为产前筛查手段,可用于高龄孕妇胎儿染色体非整倍体疾病及CNV的筛查,但对于高风险孕妇一定要建议通过羊水穿刺进一步确诊。
Objective To investigate the clinical value of non-invasive prenatal testing for fetal chromosomal aneuploidy disease and chromosome copy number variation in elderly pregnant women.Methods The singleton pregnant women who voluntarily came to our hospital for NIPT testing without contraindications were selected as the research subjects.The high-risk pregnant women were verified by amniocentesis,and chromosomal karyotyping and amniocyte genome copy number variation(CNV)was used for prenatal diagnosis.The positive predictive value(PPV),sensitivity and specificity between the older and younger groups were calculated,and the PPV of each chromosomal abnormality was compared between the older and younger groups.The pregnant women with low risk of NIPT were followed up to the end of pregnancy.Results A total of 177cases(1.40%)were at high risk by NIPT.The PPV of trisomy 21detected by non-invasive DNA in the younger and older groups were 57.89%and 83.33%,the PPV of trisomy 18in the younger and older groups were 40%and 50%,the PPV of trisomy 13in the younger and older groups were 50%and 0,the PPV of sex chromosome aneuploidy in the younger and older groups were 28.57%and 37.5%,the PPV of CNV in the younger and older groups were 41.18%and 25%,and each chromosomal abnormality between the older and younger groups was not statistically significant.The sensitivity and specificity were high.Conclusion As a prenatal screening method,NIPT can be used for the screening of fetal chromosomal aneuploidy and CNV in elderly pregnant women,but for pregnant women with high-risk of NIPT,amniocentesis must be recommended for further diagnosis.
作者
王玲
王珺
高玲霞
王晓红
WANG Ling;WANG Jun;WANG Xiao-hong(Center for Reproductive Medicine,Department of Gynecology and Obstetrics,Tang Du Hospital,The Air Force Military Medical University,XI’an,Shanxi 710038,China)
出处
《中国实验诊断学》
2023年第6期666-669,共4页
Chinese Journal of Laboratory Diagnosis
关键词
高龄孕妇
无创DNA产前检测
羊水穿刺
染色体拷贝数变异
Advanced age pregnant women
non-invasive prenatal testing
amniocentesis
chromosome copy number variation
