Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hCG and pregnancy-associated plasma protein-A
Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free β-hCG and pregnancy-associated plasma protein-A
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DOI：
10.1093/humrep/den224
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发表时间：
2008-09-01
影响因子：
6.1
通讯作者：
Nicolaides, Kypros H.
中科院分区：
文献类型：
--
作者：
Kagan, Karl O.;Wright, Dave;Nicolaides, Kypros H.
背景：筛查21三体的一个有益结果是早期诊断18和13三体。我们的目的是通过母亲年龄、胎儿颈透明度（NT）厚度、胎儿心率（FHR）和母亲血清无β - hcg和妊娠相关血浆蛋白-a （pap -a）来检查妊娠早期筛查21、18和13三体的表现。方法：在单胎妊娠11(+0)-13（+6）周时，通过母亲年龄、胎儿NT、游离β - hcg和pap - a对21三体进行前瞻性筛查，包括56376例正常孕妇、395例21三体、122例18三体和61例13三体。基于产妇年龄、NT、FHR、游离β - hcg和pap - a，开发了风险算法来计算三种三体的患者特异性风险。根据2000-2002年英格兰和威尔士孕妇的年龄分布，计算和调整检出率（DR）和假阳性率（FPR）。结果：21三体的DR和FPR分别为90%和3%，18三体的DR和FPR分别为91%和0.2%，13三体的DR和FPR分别为87%和0.2%。当筛查阳性定义为21三体风险的FPR为3%，13和18三体最大风险的FPR为0.2%时，总体FPR为3.1%，21、18和13三体的dr分别为91%、97%和94%。结论：作为早期筛查21三体的副作用，95%的13和18三体胎儿可以被检测出来，FPR增加0.1%。
BACKGROUND: A beneficial consequence of screening for trisomy 21 is the early diagnosis of trisomies 18 and 13. Our objective was to examine the performance of first-trimester screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and maternal serum-free beta-hCG and pregnancy-associated plasma protein-A (PAPP-A). METHODS: Prospective screening for trisomy 21 by maternal age, fetal NT, free beta-hCG and PAPP-A at 11(+0)-13(+6) weeks in singleton pregnancies, including 56376 normal cases, 395 with trisomy 21, 122 with trisomy 18 and 61 with trisomy 13. Risk algorithms were developed for the calculation of patient-specific risks for each of the three trisomies based on maternal age, NT, FHR, free beta-hCG and PAPP-A. Detection (DR) and false positive rates (FPR) were calculated and adjusted according to the maternal age distribution of pregnancies in England and Wales in 2000-2002. RESULTS: The DR and FPR were 90 % and 3 %, respectively, for trisomy 21, 91 % and 0.2 % for trisomy 18 and 87 % and 0.2 % for trisomy 13. When screen positivity was defined by an FPR of 3 % on the risk for trisomy 21 in conjunction with an FPR of 0.2 % on the maximum of the risks for trisomies 13 and 18, the overall FPR was 3.1% and the DRs of trisomies 21, 18 and 13 were 91%, 97% and 94%, respectively. CONCLUSIONS: As a side effect of first-trimester screening for trisomy 21, similar to 95% of trisomy 13 and 18 fetuses can be detected with an 0.1 % increase in the FPR.