{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:50Z","timestamp":1760783090550,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:p>In a pilot neonatal screening programme for Duchenne muscular dystrophy (DMD) conducted in the Canadian province of Manitoba, a cohort of eight affected males was identified between 1 January 1986 and 31 December 1989. Demographic information, knowledge of DMD, reproductive outcome, and attitudes to prenatal diagnosis and neonatal screening for DMD were obtained through questionnaires distributed in May 1992 to the eight sets of parents of index cases, two high probability carrier aunts, and one high probability carrier sister. Personal interviews were subsequently conducted in the summer of 1992. Although there is overall consensus among the families in favour of routine neonatal screening for DMD, five of seven subsequent pregnancies reported in six women were not monitored by prenatal diagnosis and have resulted in the birth of two affected boys. In a comparable time interval, prenatal diagnosis was acceptable to carrier females whose affected male relatives were traditionally diagnosed at four or five years. We conclude that, although molecular genetic analysis now allows for precise diagnosis of DMD, highly accurate carrier testing and prenatal diagnosis, very early DMD carrier identification, and genetic counselling after the identification of DMD males in a population based neonatal screening programme may not be an effective way of decreasing the number of repeat cases of DMD within families or the overall population frequency of DMD.<\/jats:p>","DOI":"10.1136\/jmg.30.8.670","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"670-674","source":"Crossref","is-referenced-by-count":20,"title":["Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy."],"prefix":"10.1136","volume":"30","author":[{"given":"E","family":"Hildes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H K","family":"Jacobs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cameron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S S","family":"Seshia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Booth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Wrogemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C R","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,8,1]]},"reference":[{"key":"ref_1","first-page":"379","article-title":"Workshop on genetic screening: from newborns to DNA typing","volume-title":"screening from newborns to DNA typing","author":"Laberge, C.M.; Knoppers, B.M.","year":"1990","unstructured":"Laberge CM, Knoppers BM. Workshop on genetic screening: from newborns to DNA typing. In: Laberge CM, Knoppers BM, eds. Genetic screening from newborns to DNA typing. Amsterdam: Elsevier, 1990:379-90."},{"key":"ref_2","first-page":"367","article-title":"A pilot program of screening for Duchenne muscular dystrophy in the Canadian province of Manitoba","volume-title":"Advances in neonatal screening","author":"Jacobs, H.K.; Cameron, A.I.","year":"1987","unstructured":"Jacobs HK, Cameron AI. A pilot program of screening for Duchenne muscular dystrophy in the Canadian province of Manitoba. In: Therrell TL Jr, ed. Advances in neonatal screening. 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Lancet 1992;339:1210-13.","journal-title":"Lancet"},{"key":"ref_9","article-title":"Tay Sachs disease: heterozygote screening and prenatal diagnosis - U. S. experience and world perspective","volume-title":"disease: screening and prevention","author":"Kaback, M.M.; Nathan, T.J.; Greenwald, S.","year":"1977","unstructured":"Kaback MM, Nathan TJ, Greenwald S. Tay Sachs disease: heterozygote screening and prenatal diagnosis - U.S. experience and world perspective. In: Kaback MM, ed. Tay-Sachs disease: screening and prevention. New York: Alan R Liss, 1977."},{"key":"ref_10","first-page":"217","article-title":"Systemic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years of experience in Lyons (France)","volume":"35","author":"Plauchu, H.; Cordier, M.P.; Carrier, H.N.","year":"1987","unstructured":"Plauchu H, Cordier MP, Carrier HN, et al. Systemic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years of experience in Lyons (France). 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