早孕期甲胎蛋白筛查用于神经管缺陷。

First-trimester screening for neural tube defects 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. 2012;31(2):109-14. doi: 10.1159/000335677. Epub 2012 Feb 29.

DOI:10.1159/000335677

PMID:22377693

Abstract

OBJECTIVE

To assess the potential value of maternal serum alpha-fetoprotein (AFP) at 11-13 weeks' gestation in early screening for fetal neural tube defects (NTDs).

METHODS

Maternal serum AFP at 11-13 weeks' gestation was measured in 32 cases of fetal NTDs, including 18 cases of acrania and 14 cases of spina bifida, and 1,500 unaffected controls. The measured serum AFP was converted into multiple of the expected median (MoM) after adjustment for gestational age and maternal characteristics and Mann-Whitney test was used to determine the significance of difference in the mean MoM of serum AFP in the NTD group to that in the controls.

RESULTS

The mean AFP MoM in the NTD group (1.76, 95% CI 1.39-2.23) was significantly higher than in the controls (p < 0.0001). The mean AFP MoM was not significantly different between the cases of acrania and cases of spina bifida (1.78 vs. 1.75; p = 0.722). The detection rates of NTD in screening by serum AFP were 50.0% (95% CI 31.9-68.1) and 37.5% (95% CI 21.1-56.3) at fixed false-positive rates of 10 and 5%, respectively.

CONCLUSION

Measurement of maternal serum AFP at 11-13 weeks' gestation may be useful in screening for fetal NTDs.

摘要

目的

评估 11-13 孕周母血清甲胎蛋白（AFP）在胎儿神经管缺陷（NTD）早期筛查中的潜在价值。

方法

测量了 32 例胎儿 NTD，包括 18 例无脑畸形和 14 例脊柱裂，以及 1500 例无影响对照者的 11-13 孕周母血清 AFP。在调整了孕周和母体特征后，将测量的血清 AFP 转换为预期中位数的倍数（MoM），并使用 Mann-Whitney 检验确定 NTD 组和对照组血清 AFP 的平均 MoM 差异的显著性。

结果

NTD 组的平均 AFP MoM（1.76，95%CI 1.39-2.23）明显高于对照组（p < 0.0001）。无脑畸形和脊柱裂病例的平均 AFP MoM 无明显差异（1.78 比 1.75；p = 0.722）。血清 AFP 筛查的 NTD 检出率分别为 50.0%（95%CI 31.9-68.1）和 37.5%（95%CI 21.1-56.3），固定假阳性率分别为 10%和 5%。