The Recurrence Risk in Spina Bifida Cystica and Anencephaly
| Autor: | Laurence Km |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Central Nervous System
Male Pediatrics medicine.medical_specialty Genetic counseling Population Chromosome Disorders Encephalocele Developmental Neuroscience Anencephaly Diseases in Twins Humans Medicine education Spinal Dysraphism Chromosome Aberrations education.field_of_study Wales business.industry Spina bifida Infant Newborn Neural tube medicine.disease Hydrocephalus medicine.anatomical_structure England Chronic Disease Pediatrics Perinatology and Child Health Female Neurology (clinical) Population Risk business |
| Zdroj: | Developmental Medicine & Child Neurology. 11:23-30 |
| ISSN: | 1469-8749 0012-1622 |
| DOI: | 10.1111/j.1469-8749.1969.tb09240.x |
| Popis: | A study carried out in South Wales of neural tube malformations is described in order to shed light on the genetics of this abnormality as well as to provide information for genetic counseling. Because twin data have suggested that factors other than genetic ones play a major part in the genesis of these malformations a population study followed by a family study was carried out to estimate the risk of recurrence. The population study of 100000 births showed that the incidence of neural tube defects was 8.1/1000 births; these break down to 3.5 for anencephaly 4.1 for spina bifida and encephalocele and .5 for hydrocephalus/1000 births respectively. The family study carried out simultaneously showed that 5.2% of sibs of index cases were also affected with neural tube malformations. The discussion of etiology focused on environmental factors chromosome abnormalities and genetic factors. Etiologically with the exception of congenital hydrocephalus neural tube defects seem due to a normally distributed polygenically inherited predisposition with a threshold beyond which the embryos are at risk. Environmental trigger mechanisms of social class seasonal and secular variations parity and maternal are then determine whether the embryo develops the malformations. The problem for genetic counseling centers around the cases of myelocele and encephalocele who survive birth. Only 16% of these will survive into the 2nd decade of life; therefore the risk of having to bring up and educate another affected child who may well be seriously handicapped is about .3% or near the population risk for these malformations. |
| Databáze: | OpenAIRE |
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