PMID: 6991696Apr 1, 1980Paper

Risk of recurrence after two children with central nervous system malformations in an area of high incidence

Journal of Medical Genetics
N C Nevin, W P Johnston

Abstract

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.

References

Oct 1, 1972·Developmental Medicine and Child Neurology·I D RichardsS Sweenie
May 1, 1973·British Journal of Preventive & Social Medicine·J H Elwood, N C Nevin
Sep 1, 1973·Journal of Medical Genetics·C O Carter, K Evans
Jun 1, 1968·Journal of Medical Genetics·C O CarterK M Laurence
Jan 1, 1965·Acta neurochirurgica·A N Guthkelch

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Citations

Nov 30, 2007·Birth Defects Research. Part A, Clinical and Molecular Teratology·Julianne Byrne
May 10, 2005·Birth Defects Research. Part A, Clinical and Molecular Teratology·Julianne ByrneRobert Keating
Jul 1, 1986·American Journal of Medical Genetics·T I FaragS A Al-Awadi
Mar 1, 1982·American Journal of Medical Genetics·F DemenaisR C Elston
Dec 8, 2005·American Journal of Medical Genetics. Part a·Julianne Byrne, Susan Carolan
Dec 18, 1996·American Journal of Medical Genetics·J ByrneL Andreussi
Apr 1, 1981·Developmental Medicine and Child Neurology·N C NevinJ D Merrett
Dec 1, 1984·Clinical Genetics·A Lippman
Jan 9, 2001·Current Problems in Pediatrics·H Northrup, K A Volcik

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