{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T15:15:22Z","timestamp":1766157322402,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,2]]},"abstract":"<jats:p>Information about the prenatal exclusion test for Huntington's disease (HD) has been given to an unselected series of couples who attended the genetic counselling clinic from 1986 onwards. Ten couples underwent 13 prenatal tests during this period with expressed intention of stopping a pregnancy if the result indicated a high risk (almost 50%) that the fetus carried the HD gene. Nine fetuses at nearly 50% risk of carrying the HD gene were identified but only six such pregnancies were terminated. In each of three high risk pregnancies which continued, the mother made a \"final hour\" decision not to undergo the scheduled, first trimester termination. In our experience, late reversal of a previous decision to undergo first trimester pregnancy termination for a genetic indication is uniquely frequent among couples who have undergone the prenatal exclusion test for HD.<\/jats:p>","DOI":"10.1136\/jmg.32.2.97","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"97-101","source":"Crossref","is-referenced-by-count":19,"title":["The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993."],"prefix":"10.1136","volume":"32","author":[{"given":"J L","family":"Tolmie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H R","family":"Davidson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H M","family":"May","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"McIntosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J S","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,2,1]]},"reference":[{"key":"ref_1","first-page":"192931","article-title":"Genetic prediction and family structure in Huntington's chorea","volume":"290","author":"Harper, P.S.; Sarfarazi, M.","year":"1985","unstructured":"Harper PS, Sarfarazi M. Genetic prediction and family structure in Huntington's chorea. BMJ 1985;290:192931.","journal-title":"BMJ"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/S0140-6736(87)90541-1","article-title":"Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker","volume":"i:","author":"Quarrell, O.W.J.; Meredith, A.L.; Tyler, A.","year":"1987","unstructured":"Quarrell OWJ, Meredith AL, Tyler A, et al. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet 1987;i: 1281-3.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/ajmg.1320270333","article-title":"Preclinical testing in Huntington's disease","volume":"27","author":"Bloch, M.; Hayden, M.R.","year":"1987","unstructured":"Bloch M, Hayden MR. Preclinical testing in Huntington's disease. Am J Med Genet 1987;27:733-4.","journal-title":"Am J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/S0140-6736(89)92084-9","article-title":"Predictive testing for Huntington's disease using linked DNA markers","volume":"ii:","author":"Brock, D.J.H.; Mennie, M.; Curtis, A.","year":"1989","unstructured":"Brock DJH, Mennie M, Curtis A, et al. Predictive testing for Huntington's disease using linked DNA markers. Lancet 1989;ii:463-6.","journal-title":"Lancet"},{"key":"ref_5","first-page":"460","article-title":"Easy calculation of lod scores and genetic risks on small computers","volume":"36","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1984","unstructured":"Lathrop GM, Lalouel JM. Easy calculation of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36:460-5.","journal-title":"Am J Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1136\/bmj.282.6264.621","article-title":"Attitudes of patients after 'genetic' termination ofpregnancy","volume":"282","author":"Donnai, D.; Charles, N.; Harris, R.","year":"1981","unstructured":"Donnai D, Charles N, Harris R Attitudes of patients after 'genetic' termination ofpregnancy. BMJ 1981;282:621-2.","journal-title":"BMJ"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/pd.1970120308","article-title":"The psychosocial sequelae of a second trimester termination of pregnancy for fetal abnormality","volume":"12","author":"M, White-Van Mourik; JM, Connor; MA, Ferguson-Smith","year":"1992","unstructured":"White-Van Mourik M, Connor JM, Ferguson-Smith MA. The psychosocial sequelae of a second trimester termination of pregnancy for fetal abnormality. Prenat Diagn 1992;12: 189-204.","journal-title":"Prenat Diagn"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ajmg.1320260204","article-title":"Attitudes of persons at risk for Huntington disease toward predictive testing","volume":"26","author":"Kessler, S.; Field, T.; Worth, L.; Mosbarger, H.","year":"1987","unstructured":"Kessler S, Field T, Worth L, Mosbarger H. Attitudes of persons at risk for Huntington disease toward predictive testing. Am J Med Genet 1987;26:259-70.","journal-title":"Am J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/ajmg.1320260207","article-title":"At risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in","volume":"26","author":"Markel, D.S.; Young, A.B.; PenneyJB","year":"1987","unstructured":"Markel DS, Young AB, PenneyJB. At risk persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan. Am Jf Med Genet 1987;26: 295-305.","journal-title":"Michigan. Am Jf Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/ajmg.1320260205","article-title":"Attitudes toward presymptomatic testing in Huntington disease","volume":"26","author":"Mastromauro, C.; Myers, R.H.; Berkman, B.","year":"1987","unstructured":"Mastromauro C, Myers RH, Berkman B. Attitudes toward presymptomatic testing in Huntington disease. Am Jf Med Genet 1987;26:271-82.","journal-title":"Am Jf Med Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.1320260206","article-title":"Intended use of predictive testing by those at risk for Huntington disease","volume":"26","author":"Meissen, G.J.; Berchek, R.L.","year":"1987","unstructured":"Meissen GJ, Berchek RL. Intended use of predictive testing by those at risk for Huntington disease. Am Jf Med Genet 1987;26:283-93.","journal-title":"Am Jf Med Genet"},{"key":"ref_12","first-page":"603","article-title":"Uptake of presymptomatic predictive testing for Huntington's disease","volume":"ii:","author":"Craufurd, D.; Dodge, A.; Kerzin-Storrar, L.","year":"1989","unstructured":"Craufurd D, Dodge A, Kerzin-Storrar L, et al. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet 1989;ii:603-5.","journal-title":"Lancet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1136\/bmj.304.6842.1593","article-title":"Presymptomatic testing for Huntington's disease in the United Kingdom","volume":"304","author":"Tyler, A.; Ball, D.; Craufurd, D.","year":"1992","unstructured":"Tyler A, Ball D, Craufurd D. Presymptomatic testing for Huntington's disease in the United Kingdom. BMJ 1992; 304:1593-5.","journal-title":"BMJ"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1399-0004.1992.tb03407.x","article-title":"One hundred requests for predictive tests for Huntington's disease","volume":"41","author":"Simpson, S.A.; Bessen, J.; Alexander, D.","year":"1992","unstructured":"Simpson SA, Bessen J, Alexander D, et al. One hundred requests for predictive tests for Huntington's disease. Clin Genet 1992;41:326-30.","journal-title":"Clin Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1136\/jmg.27.8.488","article-title":"Exclusion testing in pregnancy for Huntington's disease","volume":"27","author":"true","year":"1990","unstructured":"Tyler A, Quarrell 0, Lazarou L, et al. Exclusion testing in pregnancy for Huntington's disease. J Med Genet 1990; 27:488-95.","journal-title":"J Med Genet"},{"key":"ref_16","first-page":"1284","article-title":"First trimester prenatal diagnosis for Huntington's disease with DNA probes","volume":"ii:","author":"Hayden, M.R.; Hewitt, J.; Kastelein, J.J.P.","year":"1987","unstructured":"Hayden MR, Hewitt J, Kastelein JJP, et al. First trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet 1987;ii:1284-5.","journal-title":"Lancet"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1136\/jmg.30.7.549","article-title":"Five year study ofprenatal testing for Huntington's disease: demand, attitudes, and psychological assessment","volume":"30","author":"Adam, S.; Wiggins, S.; Whyte, P.","year":"1993","unstructured":"Adam S, Wiggins S, Whyte P, et al. Five year study ofprenatal testing for Huntington's disease: demand, attitudes, and psychological assessment. J Med Genet 1993;30:549-56.","journal-title":"J Med Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.27.4.224","article-title":"Attitudes ofgeneral practitioners to presymptomatic testing for Huntington's disease","volume":"27","author":"Mennie, M.E.; Holloway, S.M.; Brock, D.J.H.","year":"1990","unstructured":"Mennie ME, Holloway SM, Brock DJH. Attitudes ofgeneral practitioners to presymptomatic testing for Huntington's disease. J Med Genet 1990;27:224-7.","journal-title":"J Med Genet"},{"key":"ref_19","first-page":"852","article-title":"Huntington disease without CAG expansion: phenocopies or errors in assignment? Am _'","volume":"54","author":"Andrew, S.E.; Goldberg, Y.P.; Kremer, B.","year":"1994","unstructured":"Andrew SE, Goldberg YP, Kremer B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am _' Hum Genet 1994;54:852-63.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.2.97","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:21:23Z","timestamp":1760732483000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.2.97"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,2]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1995,2,1]]},"published-print":{"date-parts":[[1995,2]]}},"alternative-id":["10.1136\/jmg.32.2.97"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.2.97","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1995,2]]}}}