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)

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

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

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

This study examined 141 pregnancies with acetylcholinesterase in the amniotic fluid to determine if an acetylcholinesterase/pseudocholinesterase ratio cutoff could be set to distinguish between neural tube defects, ventral wall defects, other fetal defects, and pregnancy problems. Amniotic fluid specimens with positive or faintly positive acetylcholinesterase bands were studied. They were scanned and analyzed for the acetylcholinesterase/pseudocholinesterase ratio. In 62 of 65 fluid samples from open neural tube defects, the acetylcholinesterase/pseudocholinesterase ratios were greater than 0.13. All cases with ventral wall defects (n = 29), fetal blood contamination (n = 16), or fetal ascites (n = 2) had acetylcholinesterase/pseudocholinesterase ratios less than 0.13. Samples of cystic hygroma fluid (n = 10) had acetylcholinesterase/pseudocholinesterase ratios greater than 0.13. Two patients with fetal teratomas had intermediate values. All patients with normal outcomes but positive acetylcholinesterase had ratios of less than 0.12. Acetylcholinesterase/pseudocholinesterase ratios are a valuable part of a prenatal program to accurately diagnose fetal abnormalities.
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PMID:Amniotic fluid acetylcholinesterase ratios in prenatal diagnosis of fetal abnormalities. 278 54

An ultrasound examination at 17 weeks gestation on a woman with a family history of spina bifida suggested that the fetus had a closed encephalocele. Amniotic fluid alphafetoprotein, rapidly adhering cells and acetylcholinesterase gel electrophoresis were normal. The pregnancy was terminated and the fetus was found to have a large cystic hygroma. It is suggested that in counselling parents of an infant or fetus with a cystic hygroma and with a normal chromosome constitution, ultrasound examination in future pregnancies is advisable, because of the possibility of autosomal recessive inheritance.
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PMID:Cystic hygroma simulating an encephalocele. 662 7