Guibaud S, Bonnet M, Guibaud P
J Genet Hum. 1979 Dec;27(4):301-17.
Amniotic fluid or/and serum alpha-foeto protein (AFP) determination is used as a test-system for screening of neural tube defects. The physiologic basis of this screening are described taking into account the evolution of AFP concentration in foetal and maternal blood, and in amniotic fluid. As for all the biologic screening systems, the acquired experience reveals a lack of sensibility and specificity. First the authors analyse the analytic and biologic problems which have an effect upon sensibility; then, they consider the mechanisms which explain the specificity lack showing itself in some foetal malformations. Practically, interpretation of AFP results requires necessarily familial story and echography results. Taking into consideration the different problems concerning AFP, a programme to utilize the test-system is presented for prenatal diagnosis of malformations of central nervous system.
羊水或/和血清甲胎蛋白(AFP)测定用作筛查神经管缺陷的检测系统。在考虑胎儿和母体血液以及羊水中AFP浓度变化的基础上,描述了这种筛查的生理基础。与所有生物筛查系统一样,已获得的经验表明其缺乏敏感性和特异性。作者首先分析了影响敏感性的分析和生物学问题;然后,他们考虑了解释在某些胎儿畸形中出现的特异性缺乏的机制。实际上,AFP结果的解释必然需要家族病史和超声检查结果。考虑到与AFP相关的不同问题,提出了一个利用该检测系统进行中枢神经系统畸形产前诊断的方案。