Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.1.7 (acetylcholinesterase)
 28,390 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Early pregnancy screening for neural tube defects in Israel. 242 75

The South African Ashkenazi Jewish population is described in terms of the prevailing frequencies of the genes at 25 red cell enzyme and serum protein loci and 4 placental enzyme loci. Variation was encountered in 23 of these systems. The Tay-Sachs allele which occurs at polymorphic frequencies in Ashkenazi populations was found at a frequency of 0.022, which suggests that approximately 1 baby with Tay-Sachs disease could be expected out of every 2,000 born in this community should preventive measures not be taken. The atypical serum pseudocholinesterase cholinesterase allele was encountered at a relatively low frequency and instances of scoline apnoea would be expected to occur only during approximately 1 out of every 10,000 surgical operations performed. A single case of glucose-6-phosphate dehydrogenase deficiency was discovered during the survey. In general, the allele frequencies in the systems studied do not differ radically from those of Ashkenazi populations living in other parts of the world. In accordance with other Ashkenazi populations, the frequencies of certain alleles in our samples provide support for the belief that the Ashkenazim have their origin in the Middle East.
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PMID:A genetic profile of the South African Ashkenazi Jewish population. 408 27