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)

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

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

Forty patients underwent fetal reduction at approximately 12 weeks' gestation for multiple pregnancy. Twenty-two had maternal serum alpha-fetoprotein (MSAFP) determinations and all but one was elevated, with a mean value of 9.41 multiples of the median (MOM). A total of 53 amniotic fluid specimens were evaluated for AFP; 25% were elevated above 2.0 MOM and one sample was positive for acetylcholinesterase. None of these elevations were associated with a neural tube defect, although two neural tube defects were detected by other means. Routine MSAFP is not recommended for patients with multifetal pregnancy reduction.
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PMID:Elevated maternal serum alpha-fetoprotein and amniotic fluid alpha-fetoprotein after multifetal pregnancy reduction. 170 Mar 49

Glial fibrillary acidic protein (GFAp), an intracellular protein specific to astrocytes of the central nervous system, was determined by 2-site immunoradiometric assay in amniotic fluid from 78 pregnancies with a normal, and 100 with an abnormal outcome. GFAp was not detectable in any of the normal pregnancies, but there were measurable, and so raised, levels in 23 out of 25 cases of anencephaly and 4 out of 7 cases of spina bifida, which therefore allowed prenatal diagnosis. GFAp was also increased in 4 of 6 cases of fetal intrauterine death, but not in other congenital malformations associated with elevated alphafetoprotein levels or abnormal acetylcholinesterase banding pattern, such as exomphalos, other gastrointestinal malformations or renal abnormalities. GFAp is therefore specific for diagnosing open neural tube defects. The determination of GFAp in amniotic fluid was slightly less efficient overall than AFP for the prenatal diagnosis of neural tube defects, but can be a useful ancillary test and has the advantage of specificity.
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PMID:Value of glial fibrillary acidic protein determination in amniotic fluid for prenatal diagnosis of neural tube defects. 244 Jun 21

Prenatal screening was carried out in Havana City, Cuba, as part of a National Medical Genetics Programme, in order to detect elevated alpha-fetoprotein concentration in maternal serum (MS-AFP). A total of 97,900 pregnant women between 15 and 19 weeks of pregnancy were tested from 1982 to 1985. A double-antibody-sandwich technique was used. 173 malformed fetuses were detected. Confirmation was by ultrasonography, elevated AFP values in a second serum sample and in amniotic fluid and acetylcholinesterase. No termination of a normal pregnancy occurred. The screening of all pregnancies is easy, economical and useful for detecting not only fetuses suffering from open Neural Tube Defects (NTDs) and other severe disorders but also pregnancies at risk of further complications.
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PMID:Prenatal diagnosis of neural tube defects by measurement of serum alpha-fetoprotein in Havana City. 244 78

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

Combined alpha-fetoprotein screening in serum and specified sonographic examination has proved useful in prenatal diagnosis of neural tube and abdominal wall malformations. 207 amniocenteses were performed within a period of 3 years due to pathologic serum alpha-fetoprotein values and/or abnormal sonographic findings. 101 amniotic fluid specimens showed an increase of alpha-fetoprotein of more than 2.5 times the average value. 60 malformed neural tubes, 17 foetuses with abdominal wall defects, as well as 2 other malformations, were diagnosed. "Open" defects, as well as 17 false positive AFP values, were discovered through the electrophoretic presence of ZNS-specific acetylcholinesterase in the amniotic fluid.
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PMID:[Prenatal diagnosis of neural tube and abdominal wall defects in the 2d trimester]. 257 72

The development and validation of a coated bead immunoassay for amniotic fluid acetylcholinesterase is outlined. The assay has good precision (between assay CV of 6.8% within the normal range), and is linear up to 250 arbitrary units/L. The clinical validity of this assay has been assessed using a panel of amniotic fluid samples from normal and abnormal pregnancies. At an assay cut off level of 200 arbitrary units/L, all cases of neural tube defect-affected pregnancies were identified and the number of false positives was very small. False positives resulted from severe blood staining of the amniotic fluid. Since the monoclonal antibody used recognises red cell membrane acetylcholinesterase and the stored amniotic fluids had been frozen and thawed a number of times, the extent of this problem needs to be further assessed using freshly collected samples. The performance of this assay was found to be superior to the differential inhibitor colorimetric method and close to that of the electrophoretic procedure. The quantitative nature of the assay and the independence from operator technique makes it a useful adjunct to the measurement of amniotic fluid AFP in the prenatal diagnosis of neural tube defects.
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PMID:Antenatal diagnosis of neural tube defects using a coated bead immunoassay for acetylcholinesterase in amniotic fluid. 323 59

A case of a fetal lymphangiectasia on the ventral aspect of the neck was detected prenatally by ultrasound examination. Polyhydramnios was present. AFP values in amniotic fluid and maternal serum were in the upper normal range. An acetylcholinesterase band was found on gel electrophoresis. After delivery the prenatal diagnosis of congenital isolated lymphangiectasia was confirmed. The case illustrates a further example of a positive acetylcholinesterase test not associated with a neural tube defect.
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PMID:Fetal lymphangiectasia--another cause for a positive amniotic fluid acetylcholinesterase test. 353 93

Eighty-eight cases of abdominal wall defect with and without other lesions were ascertained by reviewing all labour room records in the West of Scotland, all surgical admissions to the Royal Hospital for Sick Children, Yorkhill, and all post mortems at Royal Hospital for Sick Children between 1978 and 1981. The affected cases comprised 39 terminations of pregnancy (17 of anterior abdominal wall defect without neural tube defect), 20 spontaneous stillbirths and 29 livebirths. All 10 cases of body stalk anomaly, 37.5 per cent of 16 gastroschisis cases and 53 per cent of 62 exomphalos cases had additional severe abnormalities. Abnormal karyotypes were present in seven out of 19 exomphalos cases but all karyotypes from 10 gastroschisis and 6 body stalk anomaly cases were normal. No correlation was found between the maternal serum AFP levels, the amniotic AFP levels and acetylcholinesterase results and the size of the lesion. It is proposed that anterior abdominal wall defects detected prenatally should have chromosome analysis and careful ultrasound to exclude associated severe anomalies before coming to a decision about termination. This policy was implemented in six pregnancies complicated by fetal gastroschisis without severe associated anomalies which were identified in the second trimester and continued to term. Immediate surgical repair was achieved in each case, although two of the infants succumbed from later complications of gastroschisis closure and one from respiratory distress syndrome. The remaining three infants made a satisfactory recovery.
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PMID:Prenatal assessment of anterior abdominal wall defects and their prognosis. 608 42


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