El diagnóstico prenatal de trastornos genéticos

Abstract

El diagnóstico prenatal de trastornos genéticos, es una de las aplicaciones clínicas de la genética más importantes en la actualidad. En los países desarrollados, se ha convertido en un eslabón fundamental de la atención prenatal adecuada. El diagnostico prenatal ha alterado dramáticamente el "consejo genético" (genetic counseling) que se brinda a las parejas que tienen la posibilidad de tener un niño malformado o que son portadores de un desorden hereditario. Mientras que en el pasado las decisiones para tener hijos se basaban solamente en factores de riesgo tales como la probabilidad de tener un nitro afectado 3%. 25%, 50%) ahora el diagnóstico prenatal puede asegurar que esta posibilidad puede ser de 0%(sano) o 100%(afectado).

This article is a brief review of the prenatal diagnosis of hereditary diseases present status. It is focused mainly in the fetal diagnosis of genetic disorders through second trimester amniocentesis and culture of desquamated viable fetal cells (genetic amniocentesis). This procedure enables the prenatal diagnosis of genetic diseases with cytogenetic manifestations such as chromosome aberrations and with biochemical and molecular alterations such as inborn errors of metabolism, hemoglobinopathies and other diseases resulting from abnormal gene structure. Diagnostic accuracy and pregnancy outcome data collected over the decade and a half since its introduction in the late '60s reveals this procedure as highly accurate with very low risks and sequelae. Attempts to culture and karyotype fetal cells from amniotic fluid have been successful at INISA, for the first time in Central America. An investigation has been carried out in order to establishprenaial diagnosis as a safe and reliable procedure for the benefit of high risk pregnancies in our country.