{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:14:41Z","timestamp":1757704481202},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8372,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We assessed the qualitative test for AChE in addition to AFP for the diagnosis of NTD in 420 AF samples selected from 16,000 second trimester amniocenteses. Three\u2010hundred and thirty were from normal and ninety from abnormal pregnancies. There were three false positives by this test, two from stored samples containing fetal blood and one from a clear specimen; all had normal outcomes and two had had abnormal AFPs. Forty\u2010seven of forty\u2010seven NTDs were positive by AChE and included 26 cases of anencephaly, 16 OSBs, and 5 encephaloceles. In addition, about half of the cases of omphalocele, fetal demise, cystic hygroma, and hydrops gave positive results. One case of congenital nephrosis was negative.<\/jats:p><jats:p>We conclude that AChE gel electrophoresis is a useful adjunctive test when AFP levels measure +3 SD above the mean. Although no false negatives occurred in this series identified by elevated AFP or increased risk for NTDs, the number in unselected pregnancies is not known.<\/jats:p>","DOI":"10.1002\/ajmg.1320120314","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:44:29Z","timestamp":1118515469000},"page":"361-366","source":"Crossref","is-referenced-by-count":23,"title":["Prenatal diagnosis of neural tube defects: Experiences with acetylcholinesterase gel electrophoresis"],"prefix":"10.1002","volume":"12","author":[{"given":"Barbara F.","family":"Crandall","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Kasha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myles","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90302-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)91272-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90027-3"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)91145-0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1093\/clinchem\/27.1.61","article-title":"Acetylcholinesterase and fetal malformations: Modified qualitative technique for diagnosis of neural tube defects","volume":"27","author":"Haddow JE","year":"1981","journal-title":"Clin Chem"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91947-4"},{"key":"e_1_2_1_8_1","first-page":"321","article-title":"Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy","volume":"2","year":"1981","journal-title":"Lancet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91828-6"},{"key":"e_1_2_1_10_1","first-page":"9","volume-title":"The Biology of Cholinesterases: Frontiers of Biology","author":"Silver A","year":"1974"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)91144-9"},{"key":"e_1_2_1_12_1","volume-title":"Amniotic Fluid in Clinical Medicine","author":"Smith AD","year":"1980"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)91823-1"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320120314","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320120314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T02:07:04Z","timestamp":1699841224000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320120314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,7]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1982,7]]}},"alternative-id":["10.1002\/ajmg.1320120314"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320120314","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,7]]}}}