无创产前检测与有创产前诊断技术在胎儿7号染色体异常筛查中的价值研究  

The value of noninvasive prenatal testing and invasive prenatal diagnosis in fetal chromosome 7 abnormality screening

作　　者：姜春阳 江元[1] 卢寨娥[1] JIANG Chunyang;JIANG Yuan;LU Zhaie(Ningbo women and children's hospital,Ningbo 315010,Zhejiang,China)

机构地区：[1]宁波市妇女儿童医院,宁波315010

出　　处：《现代实用医学》2023年第9期1131-1134,共4页Modern Practical Medicine

基　　金：宁波市省市共建医学重点学科(2010-S04)。

摘　　要：目的探讨无创产前检测(NIPT)与有创产前诊断技术在胎儿7号染色体异常筛查中的价值。方法选择2018年8月至2021年12月在宁波市妇女儿童医院经NIPT检测提示胎儿7号染色体异常需行有创产前诊断的62例孕妇为研究对象,接受有创产前诊断的孕妇经羊膜腔穿刺进行染色体核型分析,对所有产后(引产后)病例在孕期至胎儿出生后6个月内进行随访,结合妊娠结局将NIPT检测结果与有创产前诊断结果进行比较,计算7号染色体异常情况构成比,NIPT检测的阳性预测值,对一致性系数Kappa值进行评价。结果NIPT检测提示胎儿7号染色体异常的62例孕妇中,以7号染色体数目增多所占比例最高(82.30%),接受产前诊断43例,明确胎儿染色体异常3例,总体阳性预测值为6.98%,Kappa值=0.122。结论在胎儿7号染色体异常筛查中,虽然NIPT检测与有创产前诊断结果有一致性,但一致性及阳性预测值均较低,当NIPT检测提示7号染色体异常时,仍需进一步行有创产前诊断来排除或确诊。Objective To explore the value of noninvasive prenatal testing and invasive prenatal diagnosis in fetal chromosome 7 abnormality screening.Methods A total of 62 pregnant women were indicated by NIPT test that the fetal chromosome 7 abnormality required invasive prenatal diagnosis were selected as the study objects.The pregnant women who received invasive prenatal diagnosis underwent amniocentesis for chromosome karyotype analysis.All postpartum cases(after induction of labor)were followed up from pregnancy to six months after the birth of the fetus.The NIPT test results were compared with the results of invasive prenatal diagnosis combined with the pregnancy outcome,and the positive predictive value of NIPT test was calculated,and the consistency coefficient Kappa value was evaluated.Results Among the 62 pregnant women with abnormal chromosome 7 detected by NIPT,43 received prenatal diagnosis and three were diagnosed with abnormal chromosome.The overall positive predictive value was6.98%,and the negative predictive value was 100%,with Kappa value being 0.122.Conclusions In the screening of fetal chromosome 7 abnormality,although NIPT test and invasive prenatal diagnosis results are consistent,but the consistency and positive predictive value are low.When NIPT test indicates chromosome 7 abnormality,it is still necessary to exclude or confirm diagnosis by further invasive prenatal test.

关 键 词：无创产前检测 有创产前诊断 7号染色体 

分 类 号：R715.5[医药卫生—妇产科学]