{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:04Z","timestamp":1760764204216,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,2]]},"abstract":"<jats:p>Recurrence frequencies of central nervous system malformations in sibs of probands with anencephalus or spina bifida range between 1% and 7%. The frequency of hydrocephalus among sibs of such probands is low (0.21%) but, nevertheless, is increased 2 to 5-fold when compared to general population frequencies. Anencephalus and spina bifida cystica were observed in 1.65% of sibs of children with hydrocephalus, a 2- to 8-fold increased over the population frequencies. These data indicate that some aetiological factors may be common to all three malformations. The risk figure of 1.65% for anencephalus and spina bifida in sibs born after the birth of a hydrocephalic proband constitutes sufficient indication for prenatal diagnosis by alphafetoprotein determination of the amniotic fluid.<\/jats:p>","DOI":"10.1136\/jmg.16.1.14","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"14-16","source":"Crossref","is-referenced-by-count":17,"title":["Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?"],"prefix":"10.1136","volume":"16","author":[{"given":"T","family":"Cohen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Stern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Rosenmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,2,1]]},"reference":[{"key":"ref_1","first-page":"61","article-title":"A clinical and genetical study of anencephaly","volume":"2","author":"Book, J.A.; Rayner, S.","year":"1950","unstructured":"Book, J. A., and Rayner, S. (1950). A clinical and genetical study of anencephaly. American Journal ofHuman Genetics, 2, 61-84.","journal-title":"American Journal ofHuman Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.5.2.81","article-title":"A family study of major central nervous system malformations in South Wales","volume":"5","author":"Carter, C.O.; David, P.A.; Laurence, K.M.","year":"1968","unstructured":"Carter, C. O., David, P. A., and Laurence, K. M. (1968). A family study of major central nervous system malformations in South Wales. Journal of Medical Genetics, 5, 81-106.","journal-title":"Journal of Medical Genetics"},{"key":"ref_3","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. (1973). Spina bifida and anencephalus in Greater London. Journal of Medical Genetics, 10, 209-221.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","first-page":"205","article-title":"Major malformations of the central nervous system in Hungary","volume":"24","author":"Czeizel, A.; Rev6sz, C.","year":"1970","unstructured":"Czeizel, A., and Rev6sz, C. (1970). Major malformations of the central nervous system in Hungary. British Journal of Preventive and Social Medicine, 24, 205-222.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_5","first-page":"336","article-title":"Anencephaly in France","volume":"16","author":"Frezal, J.; Kelly, J.; Guillemot, M.L.; Lamy, M.","year":"1964","unstructured":"Frezal, J., Kelly, J., Guillemot, M. L., and Lamy, M. (1964). Anencephaly in France. American Journal of Human Genetics, 16, 336-350.","journal-title":"American Journal of Human Genetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1542\/peds.35.4.589","article-title":"The family history of spina bifida cystica","volume":"35","author":"Lorber, J.","year":"1965","unstructured":"Lorber, J. (1965). The family history of spina bifida cystica. Pediatrics, 35, 589-595.","journal-title":"Pediatrics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1469-8749.1965.tb10934.x","article-title":"The aetiology of neonatal hydrocephalus","volume":"7","author":"Lorber, J.; Bassi, U.","year":"1965","unstructured":"Lorber, J., and Bassi, U. (1965). The aetiology of neonatal hydrocephalus. Developmental Medicine and Child Neurology, 7, 289-294.","journal-title":"Developmental Medicine and Child Neurology"},{"issue":"22","key":"ref_8","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1469-8749.1970.tb03010.x","article-title":"Family history of congenital hydrocephalus","volume":"12","author":"Lorber, J.; De, N.C.","year":"1970","unstructured":"Lorber, J., and De, N. C. (1970). Family history of congenital hydrocephalus. Developmental Medicine and Child Neurology, 12, Suppl. 22, 94-100.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_9","first-page":"211","article-title":"Anencephalus, spina bifida and hydrocephalus","volume":"7","author":"MacMahon, B.; Pugh, T.F.; Ingalls, T.H.","year":"1953","unstructured":"MacMahon, B., Pugh, T. F., and Ingalls, T. H. (1953). Anencephalus, spina bifida and hydrocephalus. British Journal of Preventive and Social Medicine, 7, 211-219.","journal-title":"British Journal of Preventive and Social Medicine"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1111\/j.1469-8749.1972.tb02645.x","article-title":"Genetic study of anencephaly and spina bifida in Glasgow","volume":"14","author":"Richards, I.D.G.; McIntosh, H.T.; Sweenie, S.","year":"1972","unstructured":"Richards, I. D. G., McIntosh, H. T., and Sweenie, S. (1972). Genetic study of anencephaly and spina bifida in Glasgow. Developmental Medicine and Child Neurology, 14, 626-639.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1469-8749.1968.tb04824.x","article-title":"Outcome of pregnancies before and after birth of infants with nervous system malformations","volume":"15","author":"Smithells, R.W.; D'Arcy, E.E.; McAllister, E.F.","year":"1968","unstructured":"Smithells, R. W., D'Arcy, E. E., and McAllister, E. F. (1968). Outcome of pregnancies before and after birth of infants with nervous system malformations. Developmental Medicine and Child Neurology, Suppl. 15, 6-10.","journal-title":"Developmental Medicine and Child Neurology"},{"key":"ref_12","article-title":"Statistical Methods","author":"Snedecor, G.W.","year":"1956","unstructured":"Snedecor, G. W. (1956). Statistical Methods. Iowa State College Press, Ames, Iowa."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1136\/jmg.2.3.161","article-title":"Incidence and family aggregation of major congenital malformations of central nervous system","volume":"2","author":"Williamson, E.M.","year":"1965","unstructured":"Williamson, E. M. (1965). Incidence and family aggregation of major congenital malformations of central nervous system. Journal of Medical Genetics, 2, 161-172.","journal-title":"Journal of Medical Genetics"},{"key":"ref_14","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, 623-626.","journal-title":"Lancet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.1.14","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:39:47Z","timestamp":1760762387000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.1.14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,2]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1979,2,1]]},"published-print":{"date-parts":[[1979,2]]}},"alternative-id":["10.1136\/jmg.16.1.14"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.1.14","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1979,2]]}}}