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      Defectos del tubo neural en productos de abortos espontáneos

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          Abstract

          Objetivo: Describir los defectos del tubo neural en productos menores de 20 semanas de gestación y destacar las implicaciones y utilidad de su diagnóstico en el asesoramiento a la pareja. Métodos: Se realizó un estudio prospectivol, transeccional, descriptivo en una muestra no probabilística, constituida por productos de abortos espontáneos menores de 20 semanas de gestación. Se examinaron sistemáticamente las características morfológicas externas y los hallazgos anormales se registraron mediante descripción y fotografía. Ambiente: Laboratorio de Investigación "Dr. Carlos R. Davauchelle", Cátedra de Histología y Embriología de la Universidad del Zulia, Maracaibo. Resultados: De los 55 productos estudiados, 27 (49,09 %) corresponden al sexo masculino, 21 (38,18 %) al sexo femenino, y 7 (12,43 %) cuyo sexo no pudo ser determinado de acuerdo a las características morfológicas de los genitales externos. Sólo 5 (9,09 %) presentaron defectos del tubo neural y las anomalías encontradas fueron: anencefalia, craneorraquisquisis, espina bífida lumbosacra, iniencefalia y encefalocele. Conclusión: La identificación de los defectos del tubo neural en la muestra estudiada sirve como punto de partida para ofrecer asesoramiento médico a los padres acerca del riesgo de recurrencia, la utilización de medidas de prevención, el plan de acción a seguir ante futuros embarazos y la posibilidad de ofrecer el diagnóstico prenatal.

          Translated abstract

          Objective: To describe neural tube defects in products of conception before 20th week of gestation and to emphasize its implications and diagnostic utilitiy in the medical counseling to the couple. Methods: A prospective, transectional, and descriptive study in a non probabilistic sample of aborted specimen was realized. Sistematically an external morphological exam was made and the abnormal features were registered, described and photographed. Setting: Laboratorio de Investigación "Dr. Carlos R. Davauchelle", Cátedra de Histología y Embriología de la Universidad del Zulia, Maracaibo. Results: A total of 55 products were evaluated, 27 (49.09 %) male, 21 (38.18 %) females, and 7(12.43 %) no identified by morphological characteristics external genitals. Only 5 (9.09 %) had neural tube defects and the anomalies find were: anencephaly, spina bifida lumbosacral, iniencephaly and encephalocele. Conclusion: The identification of the neural tube defects in the products of spontaneous abortion will permit accurate counseling to the parents about the recurrence risk, the particular care required in further gestations, the possibility of prenatal diagnosis and to apply prevention methods.

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          Most cited references75

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          Etiology, pathogenesis and prevention of neural tube defects.

          Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (NTD). Failure of closure of the neural tube during development results in anencephaly or spina bifida aperta but encephaloceles are possibly post-closure defects. NTD are associated with a number of other central nervous system (CNS) and non-neural malformations. Racial, geographic and seasonal variations seem to affect their incidence. Etiology of NTD is unknown. Most of the non-syndromic NTD are of multifactorial origin. Recent in vitro and in vivo studies have highlighted the molecular mechanisms of neurulation in vertebrates but the morphologic development of human neural tube is poorly understood. A multisite closure theory, extrapolated directly from mouse experiments highlighted the clinical relevance of closure mechanisms to human NTD. Animal models, such as circle tail, curly tail, loop tail, shrm and numerous knockouts provide some insight into the mechanisms of NTD. Also available in the literature are a plethora of chemically induced preclosure and a few post-closure models of NTD, which highlight the fact that CNS malformations are of hetergeneitic nature. No Mendelian pattern of inheritance has been reported. Association with single gene defects, enhanced recurrence risk among siblings, and a higher frequency in twins than in singletons indicate the presence of a strong genetic contribution to the etiology of NTD. Non-availability of families with a significant number of NTD cases makes research into genetic causation of NTD difficult. Case reports and epidemiologic studies have implicated a number of chemicals, widely differing therapeutic drugs, environmental contaminants, pollutants, infectious agents, and solvents. Maternal hyperthermia, use of valproate by epileptic women during pregnancy, deficiency and excess of certain nutrients and chronic maternal diseases (e.g. diabetes mellitus) are reported to cause a manifold increase in the incidence of NTD. A host of suspected teratogens are also available in the literature. The UK and Hungarian studies showed that periconceptional supplementation of women with folate (FA) reduces significantly both the first occurrence and recurrence of NTD in the offspring. This led to mandatory periconceptional FA supplementation in a number of countries. Encouraged by the results of clinical studies, numerous laboratory investigations focused on the genes involved in the FA, vitamin B12 and homocysteine metabolism during neural tube development. As of today no clinical or experimental study has provided unequivocal evidence for a definitive role for any of these genes in the causation of NTD suggesting that a multitude of genes, growth factors and receptors interact in controlling neural tube development by yet unknown mechanisms. Future studies must address issues of gene-gene, gene-nutrient and gene-environment interactions in the pathogenesis of NTD.
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            Folate and neural tube defects

            Roy Pitkin (2007)
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              Folate and neural tube defects.

              M Pitkin (2006)
              A protective effect of folate against the development of neural tube defects (NTDs), specifically, anencephaly and spina bifida, is now well recognized, having been established by a chain of clinical research studies over the past half century. This article summarizes the more important of these studies, which have led to the current situation in which all women capable of becoming pregnant are urged to ingest folic acid regularly. The recommended intakes are 4 mg/d for those at high risk (by virtue of a previous NTD pregnancy outcome) and 0.4 mg/d for all others. However, a reduction in NTD births did not follow promulgation of these recommendations, and so folic acid fortification was mandated in the United States and some other countries. Although some controversy remains about the adequacy of fortification levels, the process was followed by significant improvement in folate indexes and a reduction of 25-30% in NTD frequency (about one-half of the proportion of cases assumed to be responsive to folate). The folate-NTD relation represents the only instance in which a congenital malformation can be prevented simply and consistently. Nevertheless, several research gaps remain: identification of the mechanism by which the defect occurs and how folate ameliorates it; characterization of the relative efficacy of food folate, folic acid added to foods, and folic acid by itself; delineation of the dose-response relations of folate and NTD prevention; and more precise quantification of the dose needed to prevent recurrences.
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                Author and article information

                Contributors
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                Journal
                og
                Revista de Obstetricia y Ginecología de Venezuela
                Rev Obstet Ginecol Venez
                Sociedad de Obstetricia y Ginecología de Venezuela (Caracas )
                0048-7732
                March 2009
                : 69
                : 1
                : 12-19
                Affiliations
                [1 ] Universidad del Zulia Venezuela
                [2 ] Universidad del Zulia Venezuela
                [3 ] Universidad del Zulia Venezuela
                [4 ] Universidad del Zulia Venezuela
                Article
                S0048-77322009000100003
                112fcd79-26ad-40b1-97d1-29cb03fb8016

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Venezuela

                Self URI (journal page): http://www.scielo.org.ve/scielo.php?script=sci_serial&pid=0048-7732&lng=en
                Categories
                OBSTETRICS & GYNECOLOGY

                Obstetrics & Gynecology
                Neural tube defects,Spontaneous abortion,Congenital anomalies,Genetic counseling,Defectos del tubo neural,Aborto espontáneo,Anomalías congénitas,Asesoramiento genético

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