早孕期唐氏综合征 21 三体筛查：甲胎蛋白检测。
First-trimester screening for trisomy 21 using alpha-fetoprotein.
机构信息
Harris Birthright Research Centre of Fetal Medicine, King's College Hospital, London, UK.
出版信息
Fetal Diagn Ther. 2011;30(3):215-8. doi: 10.1159/000330198. Epub 2011 Sep 23.
OBJECTIVE
To investigate the potential value of adding maternal serum alpha-fetoprotein (AFP) to free β-human chorionic gonadotropin (β-hCG) and PAPP-A and fetal nuchal translucency (NT) thickness in first-trimester screening for trisomy 21.
METHODS
In this case control study, serum AFP was measured in 100 trisomy 21 and 1,500 euploid pregnancies in which screening for trisomy 21 had been performed by a combination of serum free β-hCG and PAPP-A and fetal NT at 11-13 weeks' gestation. We examined the effect of adding AFP on the performance of screening by the combined test.
RESULTS
In the trisomy 21 pregnancies, the median multiple of the normal median AFP, adjusted for gestational age, maternal weight, racial origin, smoking status and method of conception, was significantly reduced (0.7037, 95% CI: 0.6398-0.7739). Adding AFP to the combined test improved the performance of screening and for a risk cut-off of 1 in 100, the false-positive rate was reduced from 2.8 by 0.4% (95% CI: 0.13-0.77%) without a significant change in detection rate.
CONCLUSIONS
Inclusion of serum AFP improves the performance of the first-trimester combined test in screening for trisomy 21.
目的
探讨在唐氏综合征（21 三体）的早孕期筛查中，将母血清甲胎蛋白（AFP）与游离β-人绒毛膜促性腺激素（β-hCG）和胎盘蛋白 A（PAPP-A）和胎儿颈项透明层（NT）厚度联合检测的潜在价值。
方法
在这项病例对照研究中，对 100 例 21 三体和 1500 例整倍体妊娠进行了血清 AFP 测量，这些妊娠均在孕 11-13 周时通过血清游离β-hCG 和 PAPP-A 以及胎儿 NT 联合筛查唐氏综合征。我们研究了添加 AFP 对联合检测筛查性能的影响。
结果
在 21 三体妊娠中，经胎龄、母体体重、种族、吸烟状态和受孕方式校正后的中位数 AFP 倍数明显降低（0.7037，95%CI：0.6398-0.7739）。将 AFP 添加到联合检测中可改善筛查性能，对于风险截断值为 1/100，假阳性率从 2.8%降低了 0.4%（95%CI：0.13-0.77%），而检出率无显著变化。
结论
纳入血清 AFP 可提高早孕期联合检测筛查 21 三体的性能。
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