{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:52Z","timestamp":1760739052465,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,4]]},"abstract":"<jats:p>An ultrasonic examination revealed a grossly distended fetal abdomen. Amniocentesis at 19 weeks' gestation showed raised amniotic fluid alphafetoprotein, a second band of specific acetylcholinesterase, and a fetal karyotype 47,XY,+18. The pregnancy was terminated and the necropsy examination showed absence of the urethra, grossly distended bladder, hydroureters, and congenital heart anomalies.<\/jats:p>","DOI":"10.1136\/jmg.20.2.132","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"132-133","source":"Crossref","is-referenced-by-count":6,"title":["Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18."],"prefix":"10.1136","volume":"20","author":[{"given":"N C","family":"Nevin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Dunlop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,4,1]]},"reference":[{"key":"ref_1","first-page":"223","article-title":"Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18","volume":"1","author":"Heller, R.H.; Adams, J.E.; Hirschfeld, R.L.; Tapper, A.J.","year":"1980","unstructured":"Heller RH, Adams JE, Hirschfeld RL, Tapper AJ. Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18. Prenatal Diagnosis 1980;1: 223-6.","journal-title":"Prenatal Diagnosis"},{"key":"ref_2","first-page":"379","article-title":"Prenatal diagnosis of neural tube defects. Genetic disorders and the Jfets","author":"Milunsky, A.","year":"1979","unstructured":"Milunsky A. Prenatal diagnosis of neural tube defects. Genetic disorders and the Jfets. New York: Plenum, 1979:379-430."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1136\/jmg.15.1.61","article-title":"Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder by absence of the urethra","volume":"15","author":"Nevin, N.C.; Ritchie, A.; McKeown, F.; Roberts, G.","year":"1978","unstructured":"Nevin NC, Ritchie A, McKeown F, Roberts G. Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder by absence of the urethra. J Med Genet 1978;15:61-3.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"227","article-title":"Quantitative and qualitative assay of amniotic fluid acetylcholinesterase in prenatal diagnosis of neural tube defects","volume":"59","author":"Voigtlander, T.; Friedl, W.; Cremer, M.; Schmidt, W.; Schroeder, T.M.","year":"1981","unstructured":"Voigtlander T, Friedl W, Cremer M, Schmidt W, Schroeder TM. Quantitative and qualitative assay of amniotic fluid acetylcholinesterase in prenatal diagnosis of neural tube defects. Hum Genet 1981;59:227-31.","journal-title":"Hum Genet"},{"key":"ref_5","first-page":"321","article-title":"Report of the Collaborative Acetylcholinesterase Study. Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy","volume":"ii:","year":"1981","unstructured":"Report of the Collaborative Acetylcholinesterase Study. Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy. Lancet 1981;ii:321-4.","journal-title":"Lancet"},{"key":"ref_6","first-page":"159","article-title":"Clinical atlas of human chromosomes","author":"de Grouchy J; C, Turleau","year":"1977","unstructured":"de Grouchy J, Turleau C. Clinical atlas of human chromosomes. New York: Wiley, 1977:159-64."},{"key":"ref_7","article-title":"A 35-year-old man with Down's syndrome presented in","volume-title":"with a one-month history of weight loss, sweating, diarrhoea, heat intolerance, and difficulty in climbing stairs. In addition he had become increasingly irritable, withdrawn, and difficult to manage and had developed visual hallucinations. There was no significant past medical history and no family history of autoimmune disease","year":"1982","unstructured":"A 35-year-old man with Down's syndrome presented in April 1982 with a one-month history of weight loss, sweating, diarrhoea, heat intolerance, and difficulty in climbing stairs. In addition he had become increasingly irritable, withdrawn, and difficult to manage and had developed visual hallucinations. There was no significant past medical history and no family history of autoimmune disease."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.2.132","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:28Z","timestamp":1760737228000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.2.132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1983,4,1]]},"published-print":{"date-parts":[[1983,4]]}},"alternative-id":["10.1136\/jmg.20.2.132"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.2.132","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,4]]}}}