Guibaud S, Capella-Bonnet M, Simplot A
J Genet Hum. 1985 Sep;33(3-4):339-45.
The authors report retrospective data on analysis of amniotic fluid DFTN markers (AFP and AChE) from 306 cases. Data were obtained from 261 amniocentesis done because there was a recurrence risk of DFTN and from 45 amniocentesis done because an anomaly as DFTN was diagnosed with ultrasonography. Results first show that the risk of recurrence is 3.03% in Rhône-Alpes area. In utero exposure to valproate appears as new indication for amniocentesis, in view of the possible association between Spina-Bifida and prenatal-valproate exposure (1/8 in the study). In contrast to anencephaly, Spina Bifida can be difficult to diagnose with ultrasonography before 20 weeks and require amniocentesis with AFP and AChE study.
作者报告了对306例羊水DFTN标志物(甲胎蛋白和乙酰胆碱酯酶)分析的回顾性数据。数据来自261例因DFTN复发风险而进行的羊膜穿刺术,以及45例因超声诊断为DFTN异常而进行的羊膜穿刺术。结果首先表明,罗讷-阿尔卑斯地区的复发风险为3.03%。鉴于脊柱裂与产前丙戊酸盐暴露之间可能存在关联(本研究中为1/8),子宫内丙戊酸盐暴露似乎成为羊膜穿刺术的新指征。与无脑儿不同,脊柱裂在20周前通过超声检查可能难以诊断,需要进行甲胎蛋白和乙酰胆碱酯酶研究的羊膜穿刺术。