Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Raised levels (greater than or equal to 4.5 munits/ml) of acetylcholinesterase (AChE) activity in amniotic fluid at 14--23 weeks of pregnancy were significantly associated with open fetal neural-tube defects. Out of 72 pregnancies correctly classified by the amniotic-fluid alpha-fetoprotein (A.F.P.) test, 2 of 56 without neural-tube defects and all 16 with open neural-tube defects (8 with anencephaly and 8awith open spina bifida) had raised levels of AChE. Out of 5 pregnancies misclassified by the A.F.P. test (4 without neural-tube defects and 1 with open spina bifida), only 1 was misclassified by the AChE test--namely, one of those without a neural-tube defect. Thus, only 3 of the 77 pregnancies tested were misclassified by the quantitative AChE test. A qualitative test for an isoenzyme of AChE found in cerebrospinal fluid correctly classified these 3 pregnancies. These findings suggest that the analysis of AChE in amniotic fluid may be a useful test in the diagnosis of open neural-tube defects.
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PMID:Amniotic-fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. 8 32

Congenital nephrosis is an autosomal recessive disorder with an incidence of 1 in 8000 in Finland, but it is quite rare in non-Finnish populations. In families known to be at risk, prenatal detection is possible by means of maternal serum and/or amniotic fluid alpha-fetoprotein levels. We report the antenatal diagnosis of four cases of congenital nephrosis, three of which were index cases, through maternal serum alpha-fetoprotein screening. The diagnosis was confirmed at birth in two infants. Two patients elected to terminate their pregnancies, and the diagnoses were confirmed pathologically (obliteration of foot processes on electron microscopy of fetal glomeruli) in both. In cases of elevated maternal serum alpha-fetoprotein, with unexplained and marked elevations of amniotic fluid alpha-fetoprotein and normal acetylcholinesterase levels, the diagnosis of congenital nephrosis must be considered regardless of ethnic origin.
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PMID:Congenital nephrosis: detection of index cases through maternal serum alpha-fetoprotein screening. 127 76

In the context of a prospective study on the adverse effects of anti-epileptic drugs on fetal outcome, we evaluated our experience with prenatal diagnosis by ultrasonography and alpha-fetoprotein (AFP) determination in amniotic fluid. We compared these results with AFP values in maternal serum obtained prior to amniocentesis. From November 1985 to July 1990, amniocentesis at 16-18 weeks of gestation was performed in 267 pregnancies of 237 different women using anti-epileptic drugs. Among 92 pregnancies with maternal valproic acid use, five (including one concordantly affected monozygotic twin-pair) were terminated because of a spina bifida aperta, all prenatally diagnosed by AFP determination and acetylcholinesterase electrophoresis in amniotic fluid. The maternal serum AFP level was raised (> or = 2.5 multiples of the median (MOM) for singleton pregnancies and > or = 4.5 MOM for twin pregnancies) in only two of these five affected pregnancies. We emphasize that maternal serum AFP levels may be unreliable for prenatal screening for fetal neural tube defects in women taking valproate and recommend that amniocentesis and fetal ultrasound examination should be offered directly.
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PMID:Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure. 828 97

Antenatal serum screening for Down's syndrome is now becoming established in many centers throughout the world. The screening method is based on the measurement of alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin between 15 and 22 weeks of pregnancy. These measurements, used in conjunction with a woman's age, provide risk estimates of having a pregnancy with Down's syndrome for every woman screened. By identifying the 5% of women with highest risk and offering them an amniocentesis, about 60% of Down's syndrome pregnancies can be identified. If an ultrasound scan examination is used routinely to estimate gestational age, the detection rate can be increased by 5% to 10%. Recent information on the distribution of the three serum markers in twin pregnancies and pregnancies with insulin-dependent diabetes mellitus now means that screening can be carried out in such pregnancies. Various other serum markers of Down's syndrome have been reported, but at present they do not have a place in routine antenatal screening for Down's syndrome. The role of amniotic fluid acetylcholinesterase measurement, alone and in combination with amniotic fluid alpha-fetoprotein measurement, in the antenatal diagnosis of open neural tube defects has recently been clarified. The best policy is to perform an amniotic fluid alpha-fetoprotein measurement as the primary test and an acetylcholinesterase determination for those women who have an amniotic fluid alpha-fetoprotein measurement of two times the normal median or greater. The acetylcholinesterase can be measured either by the standard method (gel electrophoresis) or by a new quantitative monoclonal antibody method.
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PMID:Prenatal biochemical screening for Down's syndrome and neural tube defects. 137 63

We retrospectively reviewed 29 cases of ventral abdominal wall defects to evaluate the usefulness of amniotic fluid markers in the prenatal assessment of those disorders. Amniotic fluid alpha-fetoprotein (AF-AFP) values were available in 17 cases diagnosed prior to 22 weeks' gestation and acetylcholinesterase (AF-ACE) values, in 21 cases. All 7 fetuses with a gastroschisis had an elevated AF-AFP, while only 2 of the 10 fetuses with an omphalocele had elevated values (P = .002). ACE was present in 80% of the cases of gastroschisis versus 27.3% of the cases of omphalocele (P = .03). With equivocal sonographic findings, a normal AF-AFP and negative AF-ACE may be more compatible with an omphalocele.
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PMID:Prenatal differentiation of ventral abdominal wall defects. Are amniotic fluid markers useful adjuncts? 138 May 59

A 40-year-old white woman underwent amniocentesis for advanced maternal age at 15.4 weeks gestation. Fetal chromosome analysis demonstrated two distinct cell lines: [46,XX,t(1;19)(p11;p11)]--10%; and [47,XX,t(1;19)(p11;p11) + der(1)t(1;19)(p11;q11)]--90%. The latter karyotype was trisomic for both 1q and 19p. The mother carried the balanced translocation; the father had a normal karyotype. Amniotic fluid alpha-fetoprotein level was elevated and an acetylcholinesterase band was detected. Level II ultrasonography at 17 and 24 weeks revealed several abnormalities, including a large facial cleft and a probable facial teratoma and intracranial tumor. Autopsy following pregnancy termination confirmed the presence of both. Chromosome evaluation of 172 metaphases of both the epignathus and the intracranial teratoma demonstrated a predominance of the cell line with 47 chromosomes (166/172 = 96.5%), while from nonteratoma tissue (lung, liver, skin, and brain) only the balanced karyotype was detected. These observations suggest that the chromosomal imbalance is instrumental in the etiology of the teratoma.
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PMID:An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development. 138 56

A case report of a pregnant mother with elevated midtrimester maternal serum alpha-fetoprotein, an elevated amniotic fluid alpha-fetoprotein with a positive acetylcholinesterase band, and grossly normal fetal anatomy is presented. A premature female infant was delivered with bilateral symmetrical flank skin lesions consistent with the diagnosis of aplasia cutis congenita.
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PMID:Report of a case with aplasia cutis congenita, elevated amniotic fluid alpha-fetoprotein, and positive acetylcholinesterase band. 138 21

We report the experience of a prenatal diagnosis center for routine amniotic alpha-fetoprotein and acetylcholinesterase analysis during the second trimester of pregnancy in 4,411 pregnant women. The identification of neural tube defects, for a population with a low prevalence, and of other major birth defects was studied. The pertinence of practising a fetal karyotype when these tests were abnormal was also estimated. For amniotic acetylcholinesterase, 262 electrophoreses were done. Sensitivity, specificity and positive predictive values of the tests were calculated. One fetus out of 4 carries an unbalanced chromosomal anomaly if amniotic alpha-fetoprotein is higher than the mean plus 2 standard deviations. This result shows the need for a fetal karyotype for all these cases.
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PMID:[The usefulness of the level of alpha-fetoprotein (AFP) and electrophoresis of amniotic acetylcholinesterase for the detection of selected congenital malformations]. 169 58

A combination of ultrasound and amniocentesis for alpha-fetoprotein (AFP) and acetylcholinesterase (ACHE) identified 36 anomalous fetuses among 331 pregnant women evaluated at our center for "true" elevated maternal serum alpha-fetoprotein (MSAFP). In six cases the diagnosis of fetal anomalies was missed on initial ultrasonography. In addition, placental pathology was identified in 12 cases and adverse outcome (fetal demise, intrauterine growth retardation, severe oligohydramnios) in 15. When grouped by multiples of the median (MOM), a significant linear correlation was observed between increasing MSAFP and the rate of fetal anomalies or adverse outcome. The frequency of fetal anomalies increased from 0.93% when MSAFP was less than 3.0 MOM to 56% when MSAFP was greater than 7.5 MOM. No differences were observed in the frequency of placental pathology between the groups. A normal ultrasound study in these patients will decrease considerably, but not eliminate, the risk estimate for undetected fetal anomalies. From our 83% ultrasound sensitivity we calculate that with MSAFP greater than 3.0 MOM the risk of anomalies despite a reassuring scan is greater than 1% and clearly warrants offering amniocentesis for amniotic fluid AFP and ACHE. Between 2.5 and 3.0 MOM the risk is relatively low. Amniocentesis should be offered routinely to patients with MSAFP greater than 3.0 MOM and normal ultrasonography. In patients with MSAFP of 2.5-2.9 MOM and satisfactory ultrasonography the risk of amniocentesis may outweigh its benefits.
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PMID:Combined ultrasonography and amniocentesis for pregnant women with elevated serum alpha-fetoprotein. Revising the risk estimate. 169 89

Two cases of congenital nephrosis were detected through routine maternal serum alpha-fetoprotein (MSAFP) screening of 95,135 patients. No other cases of congenital nephrosis from this group were reported, resulting in an incidence of approximately one in 47,500 in this low-risk population. In both of these cases, similar to other reported cases of congenital nephrosis having MSAFP screening, the protein concentrations were greater than or equal to 10 multiples of the median (MOM). Therefore, in the case of an MSAFP over 10 MOM and a normal ultrasound examination, congenital nephrosis should be included in counseling regarding the possibility of undetected malformations. Furthermore, in the case of a pregnancy with elevated amniotic fluid AFP with negative acetylcholinesterase and normal ultrasound, the possibility of congenital nephrosis should be mentioned, regardless of family history or ancestry. When a pregnancy is terminated because of these biochemical findings, special and immediate attention to the fetal kidneys using electron microscopy is necessary to evaluate properly the possibility of congenital nephrosis.
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PMID:Congenital nephrosis as a cause of elevated alpha-fetoprotein. 169 88


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