Prenatal screening for open neural tube defects and Down syndrome: three decades of progress.

摘要

In 1970 it was not possible to identify open neural tube defects (NTDs) in pregnancy; in 1980 it was. During this decade that the science of prenatal screening was born. Gel electrophoresis permitted the 'visual' quantification of amniotic fluid alphafetoprotein (AFP) which, by chance, Brock and Sutcliffe (1972) found to be greatly raised in pregnancies associated with fetal anencephaly. On first testing, they could not see an electrophoretic 'rocket' pattern in the gel corresponding to the sample from the anencephalic pregnancy. It was thought that the sample had, in error, not been applied to the gel. After several similar repeats, they realized that the AFP concentration was so high that it had not formed a discernible rocket pattern. It was only after the sample was greatly diluted that the rocket pattern was visible. In the 1970s radioim-munoassay superseded electrophoresis, and this had the sensitivity needed to quantify AFP in maternal serum. A link between anencephaly and raised serum AFP reported from a group in Japan (Hino et al., 1972) was published in Japanese in 1972, but became recognized in the English-speaking world a few years later.