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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)

Twins concordant for elevated alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) and discordant for neural tube defect (NTD) and sex are reported. A literature review reveals instances of termination of twin pregnancies with one normal and one abnormal fetus, partly based on concordant high AFP and positive AChE (although discordant on ultrasound examination). The levels of AFP and AChE in twin pregnancies are probably a function of the number of layers of fetal membranes separating twin sacs; dichorionic, diamniotic membranes allow transfer of AFP; monochorionic, diamniotic membranes allow transfer of both AFP and AChE. Cautious interpretation of biochemical findings and reliance on high resolution ultrasonography are suggested.
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PMID:Alpha-fetoprotein and acetylcholinesterase in twins discordant for neural tube defect. 248 70

Cytological and biochemical investigations were carried out on 60 samples of amniotic fluid obtained from 30 pregnant women with risk for development of fetal central nervous abnormality (FCNA) and 30 pregnant women in whom prenatal diagnosis was indicated for other reasons (control group). Cytological evaluation was done in an interference-polarization Nomarski microscope evaluating the cells in direct preparation and after staining with neutral red. Parallelly with cytological evaluation alpha-1-fetoprotein (AFP) and acetylcholinesterase (AChE) were determined in amniotic fluid. In three cases with open neural tube anomaly characteristic cells with strongly puckered and vacuolized cytoplasmic membranes were found. In these cases the levels of AFP and AChE exceeded the normal range. In two cases of closed abnormalities of the central nervous system diagnosed by ultrasonography no abnormalities were note by cytological and biochemical methods. The study confirmed the usefulness of the cytological examination of amniotic fluid, as a method supplementing biochemical and ultrasonographic investigations as part of prenatal diagnosis.
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PMID:[Cytological examination of the amniotic fluid in normal pregnancy and in cases of fetal central nervous system abnormalities]. 248 59

In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oligohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45,X;47,XX+21; 47,XY+21; 46,XX/45,X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14-17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.
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PMID:Amniotic fluid alpha-fetoprotein levels in the differential diagnosis of cystic hygroma. 248 39

Measurement of alpha-fetoprotein concentration and acetylcholinesterase activity in amniotic fluid can be used to identify chromosomal defects as well as neural tube defects. In seven cases of trisomy 21 and one case of partial trisomy 3, alpha-fetoprotein concentrations were below the reference range but values for acetylcholinesterase activity were normal for the appropriate gestational age. One case of trisomy 13 had an increase in acetylcholinesterase activity and normal alpha-fetoprotein concentration.
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PMID:Amniotic fluid acetylcholinesterase activity and alpha-fetoprotein in chromosomal anomalies and neural tube defects. 257 50

We report on a prenatal diagnosis with high alpha-fetoprotein level and a positive acetylcholinesterase activity in a presumptive amniotic fluid. Ultrasonographic examinations revealed a hydropic fetus with a nuchal cystic hygroma. Chromosome analysis of the aborted foetus ascertained the suspected Turner syndrome. The highly elevated alpha-fetoprotein concentration and the positive acetylcholinesterase activity as well as the absence of the cells in the fluid make it clear, that the punctate originated from a cystic hygroma. Other cases from the literature are discussed.
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PMID:[Extremely high alpha-fetoprotein levels in a puncture specimen with few cells following amniocentesis and interpretation by sonography]. 257 70

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

A series of 5 consecutive cases of fetal cystic hygroma diagnosed prenatally in the second trimester by sonography within a year in an ultrasound screening program is presented. 3 fetuses had a 45,X karyotype, one fetus had a 47,XY,+21 chromosome constitution and in one case no cytogenetic abnormality could be found. Because there was a cleft palate present in this latter female fetus, it is possible that this was a case of the recently described malformation syndrome. 3 of the pregnancies with fetal cystic hygroma ended in spontaneous abortion, in the other 2 cases the parents decided after careful genetic counseling to have an elective termination of pregnancy. Although Turner syndrome is the most frequent finding in cases of nuchal hygroma detected in utero by ultrasound, careful sonographic and cytogenetic studies as well as a detailed family history have to be obtained to delineate the cause of the malformation. On autopsy in all 3 cases with 45,X karyotype there were streak gonads, in 2 cases an additional hypoplasia of the aortic arch was found. Amniotic fluid alpha-fetoprotein and acetylcholinesterase determinations did not prove to add any significant information to the ultrasound evaluation of fetal cystic hygroma.
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PMID:[Differential diagnostic procedure in sonographically detected fetal cystic hygroma]. 258 Apr 5

Prenatal diagnosis is primarily the task of the obstetrician and clinical geneticist, but it must concern the pediatrician as well. It may give advance warning of postnatal problems and yield information that is valuable in the care of the newborn. Moreover, the pediatrician may be called upon to judge the prognosis of a child with a prenatally detected anomaly and prenatal therapy might be considered. Recent progress in prenatal diagnosis concerns sonography, including fetal blood sampling and biopsy; early detection of neural tube defects by alpha-fetoprotein and acetylcholinesterase determination (ACHE test); first trimester diagnosis of chromosome anomalies and inborn errors of metabolism; and prenatal DNA analysis. Technical progress in prenatal diagnosis improves the reliability of prognosis and genetic counselling, but also adds to existing ethical problems and may create new ones.
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PMID:[Progress in prenatal diagnosis]. 265 18

In the present study, a recently reported immunochemical technique for measuring acetylcholinesterase (AChE) in amniotic fluid utilizing the 4F19 antibody was compared with the widely utilized polyacrylamide gel technique to determine whether the immunochemical assay provided an advantage in separating unaffected pregnancies from those associated with open spina bifida (OSB) and open ventral wall defects (OVWD). The study included (1) 73 amniotic fluid samples from unaffected pregnancies [alpha-fetoprotein (AFP) less than 2 MoM] with no visible gel AChE band, (2) nine bloodstained samples from unaffected pregnancies (AFP 2.2-4.0 MoM) with visible gel AChE bands, (3) 18 samples associated with OSB (AFP 2.2-7.0 MoM) with visible gel AChE bands, and (4) 20 samples associated with OVWD (AFP 3.2-53.5 MoM) with visible gel AChE bands. The immunochemical assay produced ranges of measurements in the four respective categories as follows: (1) 2-60 arbitrary units (AU): (2) 14-69 AU, (3) 61-593 AU, and (4) 22-476 AU. Eight of the nine unaffected pregnancies with visible gel AChE bands had immunochemical measurements below the highest measurement for the samples with no visible AChE band (60 AU), as did five out of 20 OVWD pregnancies. Two of the OSB cases had values of 61 and 62 AU. These data indicate that the 4F19 specific monoclonal antibody to AChE is capable of distinguishing unaffected from affected pregnancies with reasonable reliability but that more work needs to be done to establish the extent of overlap between the unaffected and affected populations.
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PMID:Amniotic fluid acetylcholinesterase measurements: comparing immunochemical and polyacrylamide gel techniques. 271 Jul 43

A method for the determination of the activity of acetylcholinesterase (AChE) in amniotic fluid is developed. In connection with other AChE-determination methods for blood quinidine sulphate in a concentration of 2.10(-5) mol/l is used as an inhibitor for the serum-cholinesterase (ChE). With amniotic fluid samples of 162 gravidities are established preliminary limits of reference ranges. The hitherto existing experiences showed that values below the 90. percentile can be classified as normally, above the 99. percentile as pathological findings. This method is to consider among the ultrasonographical examination and the measurement of alpha-fetoprotein in serum and amniotic fluid as a further diagnosis confirming part on the suspicion of the presence of open neural tube defects.
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PMID:[The determination of acetylcholinesterase activity in amniotic fluid as a further possibility for the prenatal diagnosis of open neural tube defects]. 277 44


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