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

We report a case of an umbilical cord hemangioma associated with extremely high alpha-fetoprotein levels in maternal serum and amniotic fluid, as well as a positive acetylcholinesterase band.
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PMID:Umbilical cord hemangioma associated with extremely high alpha-fetoprotein levels. 245 94

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15-17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.
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PMID:S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus. 245 9

The implications of an "inconclusive" acetylcholinesterase test (a faint but true band) in amniotic fluid were studied over a 2 1/2-year period in our laboratory. One thousand one hundred fifty-four amniotic fluid samples were tested for acetylcholinesterase and alpha-fetoprotein; the rate of an inconclusive acetylcholinesterase result was 3.3% (38 of 1154). Fourteen such results were found in patients with a high amniotic fluid alpha-fetoprotein level (23.3%), and 24 results were associated with normal amniotic fluid alpha-fetoprotein levels (2.19%). The rates of congenital fetal malformation associated with an inconclusive acetylcholinesterase result in the two groups were 57.14% and 37.5%, respectively. In amniotic fluid samples obtained before 15 weeks' gestation, there was a higher rate of inconclusive acetylcholinesterase tests (9.29%), but a lower percentage of malformed fetuses were found compared with later in pregnancy (2.46% and 56%, respectively). Thus we suggest the terminology "equivocal" for early specimens and "suspicious" for later specimens. If obtained in early second trimester and the ultrasound scan is normal, such findings implicate the need for a careful search for fetal malformations. A positive pregnancy outcome may be expected in most cases.
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PMID:Amniotic fluid acetylcholinesterase: implications of an inconclusive result. 245 20

Elevated levels of maternal serum alpha-fetoprotein (MSAFP) will identify a population at increased risk for specific congenital malformations, which are accurately diagnosed by amniotic fluid AFP and acetylcholinesterase. The risk for spontaneous abortion related to amniocentesis, combined with increasing confidence in the accuracy of ultrasound diagnosis, has caused us to question the need for amniocentesis in the diagnostic workup of pregnancies complicated by elevated levels of AFP in maternal serum. A retrospective study of 257 pregnancies evaluated for elevated serum AFP levels revealed 16 fetal malformations diagnosed by amniotic fluid AFP and acetylcholinesterase. Only 12 of these malformations were diagnosed on the initial ultrasound study. All malformations were diagnosed when ultrasound examination was repeated for increased acetylcholinesterase activity. Earlier gestational age at scanning, smaller defects, and pure technical failure were implicated as causes of misdiagnosis. The rate of fetal malformations identified in this high-risk population (6.23%) and the rate of ultrasound misdiagnosis (1.5% of the population with elevated levels of MSAFP) imply that amniocentesis should still be considered an essential part of the diagnostic workup in these situations.
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PMID:A normal ultrasound does not obviate the need for amniocentesis in patients with elevated serum alpha-fetoprotein. 245 60

To assess the relative efficacy of amniocentesis versus targeted (detailed) ultrasonography, 225 patients referred because of an elevated maternal serum alpha-fetoprotein level (79.6%) or a family history of neural tube defect (20.4%) were evaluated. Ultrasonographic examination alone detected all 26 fetal abnormalities (11 cases of anencephaly, 10 cases of open spina bifida, and five other anomalies). Twenty-eight patients declined amniocentesis; all had normal pregnancy outcomes. Of the 167 patients with apparently normal fetal anatomy by sonography, seven had elevated alpha-fetoprotein levels but no acetylcholinesterase in the amniotic fluid. Six of these pregnancies resulted in normal infants; one infant had congenital nephrosis. The remaining 160 patients had normal sonograms with normal amniotic fluid alpha-fetoprotein levels and no fetal malformations at delivery. Although these results suggest that targeted ultrasonography by experienced personnel is a reasonable alternative to amniocentesis in evaluations for neural tube defects, the availability, cost-effectiveness, and diagnostic accuracy of this approach must be well documented in large prospective studies.
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PMID:The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects. 169 82

Measurement of maternal serum alpha-fetoprotein concentration for prenatal detection of open neural tube defects had been introduced into the obstetrical care of pregnant women in the district of Schwerin since 1983. In cases of high risk for presence of an open neural tube defect, noticed by elevated levels of maternal serum alpha-fetoprotein concentration step by step further diagnostic steps are necessary. In addition to special examination by ultrasound and measurement of alpha-fetoprotein concentration in amniotic fluid quantitative analysis of acetylcholinesterase activity in amniotic fluid seems to be valuable. Reliability of detecting open neural tube defects in prenatal care had been proved by quantitative analysis of acetylcholinesterase activity in amniotic fluid. The existing results up to now were very reliable, especially biological transit stages from normal to pathological findings were taken into consideration, too. In these cases further controls are necessary. Levels of acethylcholinesterase activity below the 90th percentile can be considered as normal findings, levels above the 99th percentile must be interpreted as pathological findings. These are our experiences up to date.
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PMID:[Quantitative acetylcholinesterase (AChE)--determination in amniotic fluid--potential for differential diagnosis in consistently high AFP levels during general AFP screening for prenatal diagnosis of open neural tube defects]. 248 36

In this study we define for the first time the distribution of alpha-fetoprotein levels and acetylcholinesterase ratios in amniotic fluid samples associated with fetal gastroschisis. Elevated alpha-fetoprotein levels and positive acetylcholinesterase measurements are found in virtually all cases, indicating that these combined measurements are highly reliable in detecting this lesion.
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PMID:Amniotic fluid alpha-fetoprotein and acetylcholinesterase measurements in pregnancies associated with gastroschisis. 248 May 89

Fetal triploidy is commonly found in early pregnancy. The majority of these pregnancies spontaneously abort in the first trimester. Occasionally, the pregnancy progresses to the second and third trimesters. We reviewed the maternal serum alpha-fetoprotein (MSAFP), amniotic fluid alpha-fetoprotein (AFP), amniotic fluid acetylcholinesterase (ACHE), fetal pathology, and placental pathology in sex second-trimester pregnancies complicated by fetal triploidy. Four of these patients had MSAFP values greater than 7.5 multiples of the median (MoM). Five of six pregnancies had MSAFP values greater than 2.25 MoM. All five of these patients had a partial mole. Four patients had amniotic fluid AFP values greater than 2.0 MoM. Two fetuses had associated neural tube defects. These were the only patients with positive amniotic fluid ACHE. None of the other patients had fetuses with anomalies that are known to be associated with an elevated MSAFP. The elevated MSAFP appeared to be related to the presence of a partial mole. Two of the five cases with an MSAFP greater than 2.25 MoM did not have sonographic evidence of a significant anomaly. Therefore, karyotyping can be of benefit in evaluating patients with elevated MSAFP.
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PMID:Maternal serum alpha-fetoprotein and fetal triploidy. 248 May 90

A case is reported of sonographic diagnosis of ADAM-complex (amniotic band syndrome) in the 19th week of gestation of an otherwise healthy pregnancy. The ultrasonic investigation showed absence of bony structures in the skull area a direct connection to the placenta. The intra-cerebral structures showed no abnormalities. Aminocentesis demonstrated normal chromosomal analysis and an alpha-fetoprotein value was within normal limits. The acetylcholinesterase examination was negative. Following prostaglandin induction, a spontaneous delivery of a 230 g freshly dead fetus occurred, the latter exhibiting a broadly-based amniotic band connection between skull and placenta.
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PMID:[Sonographic diagnosis of amniotic band syndrome]. 248 18

Seventeen centres from Australia, Britain, France, and the United States collaborated in a study to compare amniotic fluid acetylcholinesterase (AChE) determination by gel electrophoresis and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 32,642 women with singleton pregnancies (including 428 with open spina bifida and 238 with anencephaly) who had an amniocentesis at 13-24 weeks' gestation. The AChE test yielded a detection rate for open spina bifida of 99 per cent (95 per cent confidence interval 98-100 per cent), 98 per cent for anencephaly (95 per cent confidence interval 96-100 per cent), and a false-positive rate of 0.34 per cent (95 per cent confidence interval 0.28-0.40 per cent) excluding miscarriages, intrauterine death, and serious fetal abnormalities. The false-positive rate was 0.30 per cent among the 13 centres that used a specific AChE inhibitor in the test. Comparable rates for the AFP test were less favourable. (For example, the open spina bifida detection rate was 90 per cent and the false-positive rate was 0.46 per cent using the cut-off levels specified in the U.K. Collaborative AFP Study.) The AChE false-positive rate was lower in samples that were not bloodstained (0.16 per cent) than in those that were (2.4 per cent). It was higher in women who had an amniocentesis on account of a raised maternal serum AFP level (0.56 per cent) than in those who had one for other reasons (0.29 per cent). The best results were obtained by a combination of the two tests, an effective and economical policy being to perform the AFP measurement on all amniotic fluid samples and an AChE test on samples with AFP levels greater than or equal to 2.0 multiples of the normal median (about 5 per cent of all samples). Using this policy, the open spina bifida detection rate was 96 per cent and the false-positive rate was 0.14 per cent (0.06 per cent for samples that were not bloodstained and 1.2 per cent for those that were; 0.40 per cent for women with raised serum AFP levels and 0.09 per cent for other women). This policy offers a useful improvement to the prenatal diagnosis of open spina bifida.
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PMID:Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the Collaborative Acetylcholinesterase Study. 248 69


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