{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T02:23:02Z","timestamp":1789784582258,"version":"4.0.1"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,2]]},"abstract":"<jats:p>A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn.<\/jats:p>","DOI":"10.1136\/jmg.13.1.9","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"9-16","source":"Crossref","is-referenced-by-count":83,"title":["Congenital malformations of the central nervous system in spontaneous abortions."],"prefix":"10.1136","volume":"13","author":[{"given":"M R","family":"Creasy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E D","family":"Alberman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1976,2,1]]},"reference":[{"key":"ref_1","first-page":"83","article-title":"Factors affecting chromosome abnormalities in human conceptions","volume-title":"Chromosome Variations in Human Evolution","author":"Alberman, E.; Creasy, M.R.","year":"1975","unstructured":"Alberman, E. and Creasy, M. R. (1975). Factors affecting chromosome abnormalities in human conceptions. In Chromosome Variations in Human Evolution, pp. 83-95. Ed. by A. J. Boyce. Taylor and Francis, London."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/0002-9378(67)90403-6","article-title":"An anencephalic male with XX sex chromosome complement","volume":"99","author":"Arias-Bernal, L.; Jones, H.W.","year":"1967","unstructured":"Arias-Bernal, L. and Jones, H. W. (1967). An anencephalic male with XX sex chromosome complement. American Journal of Obstetrics and Gynecology, 99, 877-878.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/0002-9378(72)90791-0","article-title":"A case of cyclopia","volume":"112","author":"Batts, J.A.; Punnett, H.H.; M., Valdes-Dapena; Coles, J.W.; Green, W.R.","year":"1972","unstructured":"Batts, J. A., Punnett, H. H., Valdes-Dapena M., Coles, J. W., and Green, W. R. (1972). A case of cyclopia. American Journal of Obstetrics and Gynecology, 112, 657-661.","journal-title":"American Journal of Obstetrics and Gynecology"},{"key":"ref_4","first-page":"283","article-title":"Frequence des aberrations chromosomiques dans les avortements spontanes humains. Comptes Rendus Hebdomadaires des Seances de l'Acadlmie des","volume":"269","author":"Boue, J.G.; Boue, A.","year":"1969","unstructured":"Boue, J. G. and Boue, A. (1969). Frequence des aberrations chromosomiques dans les avortements spontanes humains. Comptes Rendus Hebdomadaires des Seances de l'Acadlmie des Sciences, 269, 283-288.","journal-title":"Sciences"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.10.3.209","article-title":"Spina bifida and anencephalus in Greater London","volume":"10","author":"Carter, C. 0.; Evans, K","year":"1973","unstructured":"Carter, C. 0. and Evans, K. (1973). Spina bifida and anencephalus in Greater London. 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Public Health Reports, Washington, 77, 835-847.","journal-title":"Public Health Reports, Washington"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1093\/oxfordjournals.bmb.a071187","article-title":"Causation of neural tube defects: clues from epidemiology","volume":"30","author":"Leck, I.","year":"1974","unstructured":"Leck, I. (1974). Causation of neural tube defects: clues from epidemiology. British Medical Bulletin, 30, 158-163.","journal-title":"British Medical Bulletin"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1056\/NEJM196407022710102","article-title":"Familial chromosome 2,3 translocation ascertained through an infant with multiple malformations","volume":"271","author":"Lee, C.S.; Bowen, P.; Rosenblum, H.; Lindsay, L.","year":"1964","unstructured":"Lee, C. S., Bowen, P., Rosenblum, H., and Lindsay, L. (1964). Familial chromosome 2,3 translocation ascertained through an infant with multiple malformations. 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Acta Paediatrica Scandinavica, 61, 203-208.","journal-title":"Acta Paediatrica Scandinavica"},{"key":"ref_12","first-page":"275","article-title":"Incidence of malformations in abortions","volume-title":"Congenital Malformations","author":"Nishimura, H.","year":"1970","unstructured":"Nishimura, H. (1970). Incidence of malformations in abortions. In Congenital Malformations, pp. 275-283. Ed. by F. C. Fraser and V. A. McKusick. Excerpta Medica, Amsterdam and New York."},{"key":"ref_13","article-title":"Registrar General","volume-title":"Statistical Review of England and Wales for the Year","year":"1973","unstructured":"Registrar General (1973). 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