{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:19:04Z","timestamp":1760833144082,"version":"build-2065373602"},"reference-count":5,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are discussed.<\/jats:p>","DOI":"10.1136\/jmg.18.5.359","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"359-361","source":"Crossref","is-referenced-by-count":2,"title":["Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy."],"prefix":"10.1136","volume":"18","author":[{"given":"P","family":"Donnai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Stephens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Young","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,10,1]]},"reference":[{"key":"ref_1","first-page":"533","article-title":"In utero diagnosis of Niemann-Pick disease","volume":"23","author":"Epstein, C.J.; Brady, R.O.; Schneider, E.L.; Bradley, R.M.; Shapiro, D.","year":"1971","unstructured":"Epstein CJ, Brady RO, Schneider EL, Bradley RM, Shapiro D. In utero diagnosis of Niemann-Pick disease. Am J Hum Genet 1971;23:533-5.","journal-title":"Am J Hum Genet"},{"key":"ref_2","first-page":"1455","article-title":"Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate","volume":"ii:","author":"Patrick, A.D.; Young, E.; Kleijer, W.J.; Niermeijer, M.F.","year":"1977","unstructured":"Patrick AD, Young E, Kleijer WJ, Niermeijer MF. Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate. Lancet 1977;ii:144. 3Editorial. Genetic amniocentesis in twin pregnancies. Br Med J 1979;ii: 1455-6.","journal-title":"Lancet; ii: 144. 3Editorial. Genetic amniocentesis in twin pregnancies"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/j.1399-0004.1979.tb00846.x","article-title":"Counselling problems when twins are discovered at genetic amniocentesis","volume":"16","author":"Hunter, A.G.W.; Cox, D.M.","year":"1979","unstructured":"Hunter AGW, Cox DM. Counselling problems when twins are discovered at genetic amniocentesis. Clin Genet 1979;16:34-42.","journal-title":"Clin Genet"},{"key":"ref_4","first-page":"990","article-title":"Cardiac puncture of fetus with Hurler's disease avoiding abortion of unaffected co-twin","volume":"ii:","author":"Aberg, A.; Mitelman, F.; Cantz, M.; Gehler, J.","year":"1978","unstructured":"Aberg A, Mitelman F, Cantz M, Gehler J. Cardiac puncture of fetus with Hurler's disease avoiding abortion of unaffected co-twin. Lancet 1978;ii:990-1.","journal-title":"Lancet"},{"article-title":"Note added in proof Twin 2 died in","year":"1980","key":"ref_5","unstructured":"Note added in proof Twin 2 died in November 1980."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.5.359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:53:54Z","timestamp":1760774034000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.5.359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,10]]},"references-count":5,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1981,10,1]]},"published-print":{"date-parts":[[1981,10]]}},"alternative-id":["10.1136\/jmg.18.5.359"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.5.359","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,10]]}}}