{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:07:05Z","timestamp":1759795625424,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,4]]},"abstract":"<jats:p>This study was undertaken to provide an estimate of the recurrence risk of central nervous system (CNS) malformation in families with two or more affected children. The hospital records and the records of the Genetic Counseling Clinics were examined for instances where a child born between 1962 to 1973 had spina bifida and anencephalus and was documented as having an affected elder sib; such children were taken as index patients. Parents of 76 families with 89 index patients were interviewed. Fifty-one index patients had younger sibs; of 85 younger sibs, 12 had spina bifida and six anencephalus (1 in 4.7). Little variation was observed in the proportion of subsequent children affected with the type of lesion in the index patient and the affected older sib. Ten index patients with two older affected sibs had 14 subsequent sibs of whom four had a CNS malformation (1 in 3.5). For the purpose of genetic counselling it was suggested that the risk after two and three children with CNS malformations in Northern Ireland was 1 in 5 and 1 in 4, respectively.<\/jats:p>","DOI":"10.1136\/jmg.17.2.87","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"87-92","source":"Crossref","is-referenced-by-count":18,"title":["Risk of recurrence after two children with central nervous system malformations in an area of high incidence."],"prefix":"10.1136","volume":"17","author":[{"given":"N C","family":"Nevin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W P","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,4,1]]},"reference":[{"key":"ref_1","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 CO, Evans K. Spina bifida and anencephalus in Greater London. J Med Genet 1973;10:209-34.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"147","article-title":"Major central nervous system malformations in South Wales","volume":"22","author":"Laurence, K.M.; Carter, C.O.; David, P.A.","year":"1968","unstructured":"Laurence KM, Carter CO, David PA. Major central nervous system malformations in South Wales. Br J Prev Soc Med 1968;22:147-212.","journal-title":"Br J Prev Soc Med"},{"key":"ref_3","first-page":"73","article-title":"Factors associated with anencephalus and spina bifida in Belfast","volume":"27","author":"Elwood, J.H.; Nevin, N.C.","year":"1973","unstructured":"Elwood JH, Nevin NC. Factors associated with anencephalus and spina bifida in Belfast. Br J Prev Soc Med 1973;27:73-80.","journal-title":"Br J Prev Soc Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/S0140-6736(67)91240-8","article-title":"The risk of recurrence after two children with central nervous system malformations","volume":"1","author":"Carter, C.O.; Roberts, J.A.F.","year":"1967","unstructured":"Carter CO, Roberts JAF. The risk of recurrence after two children with central nervous system malformations. Lancet 1967;1:306-8.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/ije\/7.4.319","article-title":"A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland","volume":"7","author":"Nevin, N.C.; McDonald, JR, Walby; A.L.","year":"1978","unstructured":"Nevin NC, McDonald JR, Walby AL. A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland. Int J Epidemiol 1978;7:319-21.","journal-title":"Int J Epidemiol"},{"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. The family history of spina bifida cystica. Pediatrics 1965;35:589-95.","journal-title":"Pediatrics"},{"key":"ref_7","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 RW, D'Arcy EE, McAllister EF. Outcome of pregnancies before and after birth of infants with nervous system malformations. Dev Med Child Neurol (Suppi) 1968;15:6-10.","journal-title":"Dev Med Child Neurol (Suppi)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1111\/j.1469-8749.1972.tb02645.x","article-title":"A 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 IDG, McIntosh HT, Sweenie S. A genetic study of anencephaly and spina bifida in Glasgow. Dev Med Child Neurol 1972;14:626-39.","journal-title":"Dev Med Child Neurol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.2.87","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:54:01Z","timestamp":1759722841000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.2.87"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,4]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1980,4,1]]},"published-print":{"date-parts":[[1980,4]]}},"alternative-id":["10.1136\/jmg.17.2.87"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.2.87","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,4]]}}}