摘要
目的探讨血清游离人绒毛膜促性腺激素β亚单位(Free-β-HCG)、妊娠相关血浆蛋白A(PAPP-A)、游离雌三醇(uE3)联合颈项透明层(NT)在孕早期胎儿染色体异常筛查中的应用价值。方法选取2014年2月~2017年10月在本院进行产检的1758例孕早期孕妇,均行血清Free-β-HCG、PAPP-A、uE3检测及胎儿NT检查,且均随访至引产或分娩,然后对胎儿或新生儿染色体情况进行遗传学检查。根据引产或分娩结局遗传学检测结果将孕妇分为正常组与异常组,对比2组血清Free-β-HCG、PAPP-A、uE3和胎儿NT水平,并比较血清Free-β-HCG、PAPP-A、uE3、胎儿NT以及4项联合检测孕早期胎儿染色体异常结果,然后绘制基于检测结果的工作曲线(ROC),测定灵敏度、特异度及计算曲线下面积(AUC)。结果随访至引产或分娩,遗传学检查显示胎儿染色体异常的为35例(异常组),胎儿染色体正常的为1723例(正常组);异常组血清Free-β-HCG水平及胎儿NT值均明显高于正常组(P<0.05),异常组血清PAPP-A及uE3水平均明显低于正常组(P<0.05);异常组血清Free-β-HCG、PAPP-A、uE3、胎儿NT检测及四项联合检测的阳性率均明显高于正常组(P<0.05);血清Free-β-HCG、PAPP-A、uE3、胎儿NT检测及四项联合检测胎儿染色体异常的AUC分别为0.883、0.872、0.839、0.896、0.927,其灵敏度分别为80.00%、77.14%、77.14%、80.00%、77.14%,特异度分别为99.13%、99.01%、98.96%、99.19%、99.83%。结论血清Free-β-HCG、PAPP-A、uE3、胎儿NT在孕早期胎儿染色体异常的筛查中均具有较高的应用价值,但联合检测的诊断效能更高,可广泛应用于临床早期筛查工作中。
Objective:To investigate the value of serum free human chorionic gonadotropin β subunit(Free-β-HCG),pregnancy associated plasma protein A(PAPP-A),free estriol(uE3)and nuchal translucency(NT)in screening of fetal chromosomal abnormalities in early pregnancy. Methods:The 1758 cases of pregnant women in early pregnancy were selected from February 2014 to October 2017 in our hospital,and the serum Free-β-HCG,PAPP-A,uE3 and fetal NT of them all were detected,then they were followed up to induction of labor or delivery and the genetic examination of chromosomes of fetus or newborn were carried out. The pregnant women were divided into normal group and abnormal group according to the genetic testing results of induced labor or delivery outcome,and the serum Free-β-HCG,PAPP-A,uE3 and fetal NT of the 2 groups were compared,also the results of serum Free-β-HCG,PAPP-A,uE3,fetal NT and four items combined detection of fetal chromosomal abnormalities in early pregnancy were compared,then the receiver operating curves(ROC)based on the detection results was made,and the sensitivity,specificity and the area under the curve(AUC)were determined. Results:Following up to induction of labor or delivery,there were 35 cases of abnormal fetal chromosomes(abnormal group)and 1723 cases of normal fetal chromosomes(normal group)according the genetics tests results. The levels of serum Free-β-HCG and fetal NT of the abnormal group were significantly higher than those of the normal group(P<0.05),and the levels of serum PAPP-A and uE3 of the abnormal group were significantly lower than those of the normal group(P<0.05). The positive rates of serum Free-β-HCG,PAPP-A,uE3,fetal NT and four combined tests of the abnormal group were significantly higher than those of the normal group(P<0.05). The AUC of serum Free-β-HCG,PAPP-A,uE3,fetal NT and combined detection of fetal chromosomal abnormalities respectively were 0.883,0.872,0.839,0.896 and 0.927,and the sensitivity respectively were80.00%,77.14%,77.14%,80.00% and 77.14%,and the specificity respectively were 99.13%,99.01%,98.96%,99.19% and99.83%. Conclusion:The serum Free-β-HCG,PAPP-A,uE3 and fetal NT have high application value in the screening of fetal chromosomal abnormalities in early pregnancy,but the diagnostic efficiency of combined detection is higher,which can be widely used in clinical early screening work.
作者
王蓉蓉
WANG Rong-rong(Department of Obstetrics and Gynecology,Shulan (Hangzhou) Hospital,Hangzhou 310000,China)
出处
《中国优生与遗传杂志》
2019年第7期777-779,787,共4页
Chinese Journal of Birth Health & Heredity
