Early pregnancy screening for neural tube defects in Israel.

A pilot project to detect neural tube defects (NTD) of the fetus by maternal serum alpha-fetoprotein (MSAFP) screening of women in early pregnancy was initiated in Tel Aviv in 1982 at the instigation of the Israel Ministry of Health. The program was designed to be an extension of routine pregnancy care, which in this city is provided in municipal family clinics that are attended by about 50% of pregnant women before the 20th week of pregnancy. Of these women, 89% complied with the program. Women with a MSAFP level above a cutoff point of 2.4 multiples of the median (MOM) were invited for an ultrasound examination of the fetus, without having to repeat the MSAFP test, thereby reducing maternal anxiety. This deviation from the usual test system protocol did not impair sensitivity (87%), or specificity of the test on its own (95.6%), or in combination with ultrasound examination of the fetus and alpha-fetoprotein and acetylcholinesterase testing of the amniotic fluid (99.9%). The program detected 13 fetuses with an NTD; there were two false-negative results and one false-positive. The predictive value of a positive test was 93%. Its effectiveness as a preventive measure was impaired by the fact that 50% of pregnant women did not attend the family clinic before the 20th gestational week. An educational program for professionals and for the public is contemplated in order to reduce this proportion. Only 50% of normal twin pregnancies had an elevated MSAFP. A check on compliance with other screening systems during the interview for MSAFP screening led to the detection and elective abortion of two fetuses with Tay-Sachs disease. MSAFP screening in Israel is cost-effective rather than cost-beneficial.