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Spina bifida and anencephaly: a problem in genetic–environmental interaction

Published online by Cambridge University Press:  31 July 2008

C. O. Carter
C. O. Carter
Affiliation:
MRC Clinical Genetics Research Unit, Institute of Child Health, London, W.C.1
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Summary

Anencephaly and spina bifida cystica, malformations of the central nervous system, are due to failure of closure of the neural tube. These malformations are a major cause of stillbirth, infant death and (in the case of spina bifida) of childhood morbidity in Britain today.

Their aetiology is not known in detail. There are, however, indications from family studies and from the striking racial variation in their incidence (which is in part at least maintained after migration) that genetic factors are important in their causation. There is also evidence from maternal age and birth order effects, secular and seasonal variation, and social class effects that environmental factors also are important in their aetiology.

Type
Research Article
Information
Journal of Biosocial Science , Volume 1 , Issue 1 , January 1969 , pp. 71 - 83
Copyright
Copyright © Cambridge University Press 1969

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References

Alter, M. (1962) Anencephalus, hydrocephalus and spina bifida. Archs. Neurol., Chicago, 7, 411.CrossRefGoogle ScholarPubMed
Carter, C.O., David, P. A. & Laurence, K.M. (1968) A family study of major central nervous system malformations in South Wales. J. med. Genet. 5, 81.CrossRefGoogle ScholarPubMed
Carter, C.O. & Roberts, J.A.F. (1967) The risk of recurrence after two children with central nervous system malformations. Lancet, i, 306.CrossRefGoogle Scholar
Coffey, V.P. & Jessop, W.J.E. (1959) Maternal influenza and congenital deformities. A follow-up study. Lancet, i, 748.Google Scholar
Collman, R.D. & Stoller, A. (1962) Epidemiology of congenital anomalies of the central nervous system with special reference to patterns in the State of Victoria, Australia. J. ment. Defic. Res. 6, 22.Google Scholar
Douglas, J.W.B. (1964) The Home and the School. McGibbon & Kee, London.Google Scholar
Edwards, J.H. (1958) Congenital malformations of the central nervous system in Scotland. Br. J. prev. soc. Med. 12, 115.Google ScholarPubMed
Frézal, J., Kelley, J., Guillemot, M.L. & Lamy, M. (1964) Anencephaly in France. Am. J. hum. Genet. 16, 336.Google ScholarPubMed
Giroud, A. (1960) In: Ciba Foundation Symposium on Congenital Malformations. Edited by Wolstenholme, G.E.W. & O'Connor, C.M.. Churchill,London.Google Scholar
Gittelsohn, A.M. & Milham, S. (1965) In: Genetics and the Epidemiology of Chronic Diseases. Edited by Neel, J. V., Shaw, M. J. & Shull, W. J.. US Public Health Service Publication No. 1163, Washington.Google Scholar
Hewitt, D. (1965) In: Genetics and the Epidemiology of Chronic Diseases. Edited by Neel, J. V., Shaw, M. J. & Shull, N. J.. US Health Service Publication No. 1163, Washington.Google Scholar
Hindse-Nielsen, S., (1938) Spina bifida—prognosis; heredity; a clinical study. Acta chir. scand. 80, 525.Google Scholar
Laurence, K.M., Carter, C.O. &David, P.A. (1968a) The major central nervous system malformations in South Wales. I. Br. J. prev. soc. Med. 22, 146.Google Scholar
Laurence, K.M., Carter, C.O. & David, P.A. (1968b) The major central nervous system malformations in South Wales. II. Br. J. prev. soc. Med. (In press).Google Scholar
Leck, I. (1966) Change in the incidence of neural tube defects. Lancet, ii, 791.CrossRefGoogle Scholar
Leck, I. (1968) Ethnic differences in the incidence of malformations. Br. J. prev. soc. Med. 22, 114.Google Scholar
Leck, I. & Record, R.G. (1966) Seasonal incidence of anencephalus. Br. J. prev. soc. Med. 20, 67.Google ScholarPubMed
MacMahon, B., Pugh, T.F. & Ingalls, T.H. (1953) Anencephalus, spina bifida and hydrocephalus. Incidence related to sex, race, and season of birth, and incidence in siblings. Br. J. prev. soc. Med. 7, 211.Google ScholarPubMed
Milham, S. (1962) Increased incidence of anencephalus and spina bifida in siblings of affected cases. Science, 138, 593.CrossRefGoogle ScholarPubMed
Miller, J.R. (1964) In: Second International Conference on Congenital Malformations. Edited by Fishbein, M.. International Medical Congress Limited,New York.Google Scholar
Morton, N.F., Chung, C.S. & Mi, W.P. (1966) Genetics of Interracial Crosses in Hawaii. Karger, Basel.Google Scholar
Naggan, L. & MacMahon, B. (1967) Ethnic differences in prevalence of anencephaly and spina bifida in Boston, Massachusetts. New Engl. J. Med. 277, 119.CrossRefGoogle ScholarPubMed
Newcombe, H. (1964) In: Second International Conference on Congenital Malformations. Edited by Fishbein, M.. International Medical Congress Limited,New York.Google Scholar
Penrose, L.S. (1957) Genetics of anencephaly. J. ment. Defic. Res. 1, 4.Google ScholarPubMed
Record, R.G. (1961) Anencephalus in Scotland. Br. J. prev. soc. Med. 15, 93.Google ScholarPubMed
Record, R.G. & Mckeown, T. (1949) Congenital malformations of the central nervous system. 1. A survey of 930 cases. Br. J. prev. soc. Med. 3, 183.Google Scholar
Record, R.G. & Mckeown, T. (1950) Congenital malformations of the central nervous system. III. Risks of malformations in sibs of malformed individuals. Br. J. prev. soc. Med. 15, 93.Google Scholar
Registrar General's Statistical Review of England and Wales. Part I. Tables, Medical. HMSO, London.Google Scholar
Scott, J.M. & Patterson, L. (1966) Monozygous anencephalic triplets—a case report. J. Obstet. Gynaec. Br. Commonw. 73, 147.CrossRefGoogle ScholarPubMed
Searle, A.G. (1959) The incidence of anencephaly in a polytypic population. Ann. hum. Genet 23, 279.CrossRefGoogle Scholar
Smithells, R.W., Chinn, E.R. & Franklin, D. (1964) Anencephaly in Liverpool. Develop. Med. Child Neurol. 6, 231.CrossRefGoogle ScholarPubMed
Stevenson, A.C., Johnston, H.A., Stewart, M.I.P. & Golding, D.R. (1966) Congenital malformations. Bull. Wld Hlth Org. 34, Suppl.Google ScholarPubMed
Thiersch, J.B. (1960) Discussion following paper by Nelson.M.M. Ciba Foundation Symposium on Congenital Malformations. Edited by Wolstenholme, G.E.W. & O'Connor, C.M.. Churchill,London.Google Scholar
Williamson, E.M. (1965) Incidence and family aggregation of major congenital malformations of the central nervous system. J. med. Genet. 2, 161.CrossRefGoogle Scholar