Genetic counseling for neurodegenerative diseases such as Spina Bifida

Abstract

Introduction: genetic counseling in spina bifida focuses on the identification of risk factors and the probability of having a child with the disease. Although it is not hereditary, in the strict sense of the word, there is a greater risk of having a second affected child if you have previously had another child affected by this malformation. Objective: describe the pathology and genetics of combined malformations in the spinal cord and vertebral column due to a defect in the closure of the neural tube and its covers. Methods: a bibliographic review was carried out where information was collected from publications, scientific journals indexed through the search engine in PubMed, Scielo and Google Scholar, using the research key words. Development: the information collected shows that the enzyme 5,10-Methyl-tetrahydrofolate reductase transforms 5,10-Methyl-tetrahydrofolate into 5-Methyl-tetrahydrofolate, which is an intermediate in the conversion of the metabolism of homocysteine ​​to methionine. Polymorphisms in MTHFR have been related to an increased risk of suffering from neural tube closure defects, which is why these are a pathology considered multifactorial inheritance. Conclusions: based on the information collected from scientific journals, it was determined that it is necessary for pregnant women to undergo routine examinations to identify neural tube defects early, and thus help in early therapeutic intervention and genetic counseling.