孕中期妇女外周血中三联检测在胎儿染色体异常筛查中的价值分析  

The clinical value of peripheral blood triple detections for screening fetal chromosomal abnormalities in pregnant women at the second trimester

作　　者：张力 ZHANG Li(Clinical Laboratory,Ziyang Yanjiang Center for Maternal and Child Health Care ＆ Family Planning Service 9Ziyang 641300,China)

机构地区：[1]四川省资阳市雁江区妇幼保健计划生育服务中心检验科,四川资阳641300

出　　处：《实用医院临床杂志》2018年第5期88-91,共4页Practical Journal of Clinical Medicine

摘　　要：目的探讨孕中期妇女外周血中三联检测在胎儿染色体异常中筛查中的应用价值。方法我院孕中期单胎妊娠的孕妇5245例,检测母血清甲胎蛋白(AFP)、游离人绒毛膜促性腺激素(freeβ-h CG)、未结合雌三醇(u E3)的浓度,计算胎儿患有21三体、18三体、开放性神经管畸形(ONTD)风险值,对21三体、18三体综合征的高风险孕妇羊膜穿刺进行染色体核型分析,ONTD高风险的孕妇进行超声检查,直至产前诊断、胎儿娩出,并计算三联检测在染色体异常筛查中的应用价值。结果(1)随着孕周的增长,孕妇AFP、u E3逐渐升高,但freeβ-h CG呈逐渐下降趋势;(2)三联检测显示阳性229例,阴性5016例,灵敏度、特异度、阳性预测值、阴性预测值、准确率依次为82.4%、95.9%、6.11%、99.9%、95.8%,Youden指数为0.783,ROC曲线面积0.891,标准误0.054,P=0.00;(3)549例高龄孕妇(年龄≥35岁),三联检测显示真阳性4例,真阴性547例,灵敏度、特异度、阳性预测值、阴性预测值、准确率依次为80%、84%、4.4%、99.8%、83.9%,Youden指数为0.64,ROC曲线面积0.73,标准误为0.051,P=0.00;(4)高龄孕妇有5例染色体异常胎儿,其他年龄段的孕妇12例,其中21三体综合征7例。结论孕中期孕母血清三联检测有助于胎儿染色体异常中筛查,为产前诊断提供一定参考价值,但还需借助遗传学。Objective To investigate the clinical value of peripheral blood triple detection for screening fetal chromosomal abnormalities in pregnant women at the second trimester.Methods We measured the concentrations of serum alpha fetoprotein （AFP ） , free human chorionic gonadotropin （ p-hCG） and unconjugated estriol （ uE3 ） in 5245 pregnant women with single-pregnancy at the sec-ond trimester in our hospital.The risk values of fetuses suffering from trisomy 21,trisomy 18 and open neural tube deformity （ ONTD） were calculated.Chromosomal karyotype was analyzed through amniocentesis in pregnant women with high risk of trisomy 21 and trisomy 18.Pregnant women with high risk of ONTD were examined by ultrasound until prenatal diagnosis and birth of the baby.The value of triple detection for screening chromosome abnormalities was analyzed.Results （D With the increase of gestational age, AFP and uE3 in pregnant women were gradually increased while free p-hCG was gradually decreased.The triple detection showed positivity in 229 cases and negativity in 5 ,016 cases.The sensitivity, specificity, positive predictive value, negative predictive and accuracy were 82.4% , 95.9% ,6.11% ,99.9% and 95.8% ,respectively.The Youden index and area under ROC curve were0.783 and0.891 with0.054 of standard error,respectively （P=0.001 ） . （3） In the 549 elderly pregnant women （≥35 years old） ,the triple detection showed true positivity in 4 cases and true negativity in 547 cases.The sensitivity, specificity, positive predictive value, negative predictive value and accuracy rate were 80% ,84% ,4.4% ,99. 8% and 83.9% , respectively.The Youden index and area under ROC curve were0.64 and0.73 with0.051 of standard error,respectively （P=0.001 ） . （4） There were 5 cases of fetuses with chromosome abnormalities in the elderly pregnant women and 12 cases in pregnant women in other age groups, including 7 cases of trisomy 21.Conclusion The periph-eral b

关 键 词：染色体 产前诊断 羊膜穿刺术 母血清筛查试验 

分 类 号：R446.11[医药卫生—诊断学]