{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:10:39Z","timestamp":1759687839968,"version":"build-2065373602"},"reference-count":32,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,6]]},"abstract":"<jats:p>It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.<\/jats:p>","DOI":"10.1136\/jmg.16.3.210","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"210-214","source":"Crossref","is-referenced-by-count":12,"title":["May spina bifida result from an X-linked defect in a selective abortion mechanism?"],"prefix":"10.1136","volume":"16","author":[{"given":"J","family":"Burn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Gibbens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,6,1]]},"reference":[{"key":"ref_1","first-page":"25","article-title":"Steroid metabolism in the adrenals of fetal sheep in relation to natural and corticotrophin induced parturition","volume":"16","author":"Anderson, A.B.M.; Pierrepoint, C.G.; Griffiths, K.; Turnbull, A.C.","year":"1972","unstructured":"Anderson, A. B. M., Pierrepoint, C. G., Griffiths, K., and Turnbull, A. C. (1972). Steroid metabolism in the adrenals of fetal sheep in relation to natural and corticotrophin induced parturition. Journal of Reproduction and Fertility, 16, (Suppl.), 25-38.","journal-title":"Journal of Reproduction and Fertility"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1111\/j.1471-0528.1965.tb00097.x","article-title":"The variation of endometrial acid phosphatase activity with the menstrual cycle","volume":"72","author":"Bitensky, L.; Cohen, S.J.","year":"1965","unstructured":"Bitensky, L., and Cohen, S. J. (1965). The variation of endometrial acid phosphatase activity with the menstrual cycle. Journal of Obstetrics and Gynaecology of the British Commonwealth, 72, 769-774.","journal-title":"Journal of Obstetrics and Gynaecology of the British Commonwealth"},{"key":"ref_3","article-title":"Congenital Malformations","author":"Carter, C. 0","year":"1970","unstructured":"Carter, C. 0. (1970). Congenital Malformations. Ed. by F. C. Fraser and V. A. McKusick. Excerpta Medica, Amsterdam."},{"key":"ref_4","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","year":"1973","unstructured":"Carter, C. 0. (1973). Spina bifida and anencephalus in Greater London. Journal of Medical Genetics, 10, 209-234.","journal-title":"Journal of Medical Genetics"},{"issue":"32","key":"ref_5","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1111\/j.1469-8749.1974.tb03442.x","article-title":"Clues to the aetiology of neural tube defects","volume":"16","author":"Carter, C. 0","year":"1974","unstructured":"Carter, C. 0. (1974). Clues to the aetiology of neural tube defects. Developmental Medicine and Child Neurology, 16, Suppl. 32, 3-15.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1093\/oxfordjournals.bmb.a071318","article-title":"Genetics of common single malformations","volume":"32","author":"Carter, C. 0","year":"1976","unstructured":"Carter, C. 0. (1976). Genetics of common single malformations. British Medical Bulletin, 32, 21-26.","journal-title":"British Medical Bulletin"},{"key":"ref_7","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.O.; Evans, K.","year":"1973","unstructured":"Carter, C. O., and Evans, K. (1973a). Spina bifida and anencephalus in Greater London. Journal of Medical Genetics, 10, 209-234.","journal-title":"Journal of Medical Genetics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/S0140-6736(73)92593-2","article-title":"Children of adult survivors with spina bifida cystica","volume":"2","author":"Carter, C.O.; Evans, K.","year":"1973","unstructured":"Carter, C. O., and Evans, K. (1973b). Children of adult survivors with spina bifida cystica. Lancet, 2, 924-926.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1136\/bmj.4.5999.743","article-title":"Spina bifida and anencephaly: miscarriage as a possible cause","volume":"4","year":"1975","unstructured":"Clarke, C., Hobson, D., McKendrick, 0. H., Rogers, S. C., and Sheppard, P. M. (1975). Spina bifida and anencephaly: miscarriage as a possible cause. British Medical Journal, 4, 743-746.","journal-title":"British Medical Journal"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/BF02951354","article-title":"A three year study of anencephaly in Dublin","volume":"393","author":"Coffey, V.P.; Jessop, W.J.E.","year":"1958","unstructured":"Coffey, V. P., and Jessop, W. J. E. (1958). A three year study of anencephaly in Dublin. Irish Journal of Medical Science, 393, 391-413.","journal-title":"Irish Journal of Medical Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.13.1.9","article-title":"Congenital malformations of the central nervous system in spontaneous abortions","volume":"13","author":"Creasy, M.R.; Alberman, E.D.","year":"1976","unstructured":"Creasy, M. R., and Alberman, E. D. (1976a). Congenital malformations of the central nervous system in spontaneous abortions. Journal of Medical Genetics, 13, 9-16.","journal-title":"Journal of Medical Genetics"},{"key":"ref_12","volume-title":"Clinical Genetics Society","author":"Creasy, M.R.; Alberman, E.D.","year":"1976","unstructured":"Creasy, M. R., and Alberman, E. D. (1976b). 1st Meeting Clinical Genetics Society, London.","edition":"1st Meeting"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/tera.1420140302","article-title":"The multifactorial threshold conceptuses and misuses","volume":"14","author":"Fraser, F.C.","year":"1976","unstructured":"Fraser, F. C. (1976). The multifactorial threshold conceptuses and misuses. Teratology, 14, 267-280.","journal-title":"Teratology"},{"key":"ref_14","first-page":"1","article-title":"Studies on the mode of action of injected hypertonic saline in therapeutic abortion","volume":"25","author":"Gustavii, B.","year":"1973","unstructured":"Gustavii, B. (1973). Studies on the mode of action of injected hypertonic saline in therapeutic abortion. Acta Obstetricia et Gynecologica Scandinavica, 25, (Suppl.), 1-22.","journal-title":"Acta Obstetricia et Gynecologica Scandinavica"},{"key":"ref_15","article-title":"Congenital myotonic dystrophy","author":"Harper, P.S.","year":"1975","unstructured":"Harper, P. S. (1975). Congenital myotonic dystrophy. II."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1136\/bmj.1.6105.72","article-title":"Birth ranks of spontaneous abortions in sibships of children affected by anencephaly or spina bifida","volume":"1","author":"James, W.H.","year":"1978","unstructured":"James, W. H. (1978). Birth ranks of spontaneous abortions in sibships of children affected by anencephaly or spina bifida. British Medical Journal, 1, 72-73.","journal-title":"British Medical Journal"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1093\/oxfordjournals.aje.a112073","article-title":"Female excess in anencephaly and spina bifida: possible gestational influences","volume":"101","author":"Janerich, D.T.","year":"1975","unstructured":"Janerich, D. T. (1975). Female excess in anencephaly and spina bifida: possible gestational influences. American Journal of Epidemiology, 101, 70-76.","journal-title":"American Journal of Epidemiology"},{"key":"ref_18","first-page":"73","article-title":"Twins and neural tube defects","volume":"28","author":"Knox, E.G.","year":"1970","unstructured":"Knox, E. G. (1970). Twins and neural tube defects. British Journal of Preventive and Social Medicine, 28, 73-84.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1136\/bmj.2.6083.361","article-title":"Spina bifida and anencephaly: are miscarriages a possible cause?","volume":"2","author":"Laurence, K.M.; Roberts, C.J.","year":"1977","unstructured":"Laurence, K. M., and Roberts, C. J. (1977). Spina bifida and anencephaly: are miscarriages a possible cause? British Medical Journal, 2, 361-363.","journal-title":"British Medical Journal"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/tera.1420050305","article-title":"The etiology of human malformations: insights from epidemiology","volume":"5","author":"Leck, I.","year":"1972","unstructured":"Leck, I. (1972). The etiology of human malformations: insights from epidemiology. Teratology, 5, 303.","journal-title":"Teratology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1093\/oxfordjournals.bmb.a071187","article-title":"Causation of neural tube defects","volume":"30","author":"Leck, I.","year":"1974","unstructured":"Leck, I. (1974). Causation of neural tube defects. British Medical Bulletin, 30, 158-162.","journal-title":"British Medical Bulletin"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1038\/232629a0","article-title":"Possible role for prostaglandin F2a in parturition in sheep","volume":"232","author":"Liggins, G.C.; Grieves, S.A.","year":"1971","unstructured":"Liggins, G. C., and Grieves, S. A. (1971). Possible role for prostaglandin F2a in parturition in sheep. Nature, 232, 629-631.","journal-title":"Nature"},{"key":"ref_23","first-page":"\"97","article-title":"Anencephaly and spina bifida: an etiologic hypothesis. Birth Defects: Original Article Series","volume":"1","author":"Nance, W.E.","year":"1971","unstructured":"Nance, W. E. (1971). Anencephaly and spina bifida: an etiologic hypothesis. Birth Defects: Original Article Series, VII, No. 1, 97-102. The National Foundation-March of Dimes, New York. Nishimura, H. (1970). Incidence of malformations in abortions. In Congenital Malformations, p. 275. Ed. by F. C. Fraser and V. A. McKusick. Excerpta Medica, Amsterdam.","journal-title":"VII; Congenital Malformations; The National Foundation-March of Dimes"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0140-6736(59)90188-6","article-title":"Nuclear chromatin of anencephalic fetuses","volume":"2","author":"Polani, P.E.","year":"1959","unstructured":"Polani, P. E. (1959). Nuclear chromatin of anencephalic fetuses. Lancet, 2, 240-241.","journal-title":"Lancet"},{"key":"ref_25","series-title":"Proceedings of the 4th","article-title":"Human genetics","author":"Race, R.","year":"1971","unstructured":"Race, R. (1971). Human genetics. Proceedings of the 4th"},{"article-title":"International Congress on Human Genetics","year":"1971","key":"ref_26","unstructured":"International Congress on Human Genetics, Paris, 1971."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1136\/bmj.4.5883.20","article-title":"Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence","volume":"4","author":"Roberts, C.J.; Lloyd, S.","year":"1973","unstructured":"Roberts, C. J., and Lloyd, S. (1973). Area differences in spontaneous abortion rates in South Wales and their relation to neural tube defect incidence. British Medical Journal, 4, 20-22.","journal-title":"British Medical Journal"},{"key":"ref_28","first-page":"81","article-title":"Anencephalus: a changing sex ratio","volume":"27","author":"Rogers, S.C.; Morris, M.","year":"1973","unstructured":"Rogers, S. C., and Morris, M. (1973). Anencephalus: a changing sex ratio. British Journal of Preventive and Social Medicine, 27, 81-84.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/tera.1420060217","article-title":"Greater sensitivity of female than male rat embryos to acetazolamide teratogenicity","volume":"6","author":"Scott, W.J.; Butcher, R.E.; Kindt, C.W.","year":"1972","unstructured":"Scott, W. J., Butcher, R. E., Kindt, C. W., et al. (1972). Greater sensitivity of female than male rat embryos to acetazolamide teratogenicity. Teratology, 6, 239.","journal-title":"Teratology"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1016\/S0140-6736(72)92991-1","article-title":"Prostaglandin administration for induction of midtrimester abortion in complicated pregnancies","volume":"2","author":"Toppozada, M.; Bygdeman, M.; Wiqvist, N.","year":"1972","unstructured":"Toppozada, M., Bygdeman, M., and Wiqvist, N. (1972). Prostaglandin administration for induction of midtrimester abortion in complicated pregnancies. Lancet, 2, 1420-1421.","journal-title":"Lancet"},{"key":"ref_31","first-page":"146","article-title":"Prostaglandin production contributes to the contractions of the rat isolated uterus","volume":"45","author":"Vane, J.R.; Williams, K.","year":"1972","unstructured":"Vane, J. R., and Williams, K. 1. (1972). Prostaglandin production contributes to the contractions of the rat isolated uterus. British Journal of Pharmacology and Chemotherapy, 45, 146P.","journal-title":"British Journal of Pharmacology and Chemotherapy"},{"key":"ref_32","first-page":"623","article-title":"Genetics of anencephaly and spina bifida","volume":"2","author":"Yen, S.; MacMahon, B.","year":"1968","unstructured":"Yen, S., and MacMahon, B. (1968). Genetics of anencephaly and spina bifida. Lancet, 2, 623-636.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.3.210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:32:46Z","timestamp":1759685566000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.3.210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,6]]},"references-count":32,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1979,6,1]]},"published-print":{"date-parts":[[1979,6]]}},"alternative-id":["10.1136\/jmg.16.3.210"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.3.210","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,6]]}}}