Resumen

LEDEZMA CUBA, Laydi Dayanna  y  SORIA GALVARRO, Nicole Trino. ALOBAR HOLOPROSENCEPHALY. CASE REPORT. Rev. Méd. La Paz [online]. 2024, vol.30, n.1, pp.47-52.  Epub 30-Jun-2024. ISSN 1726-8958.

Since the advent of obstetric ultrasound and invasive studies, fetal genetics have helped in the antenatal detection of congenital abnormalities, being one of the basic objectives of antepartum fetal surveillance. The combination of both techniques currently offers a complete approach in terms of prenatal diagnosis. Many developmental disorders are thought to arise from genetic and environmental risk factors. One of these is holoprosencephaly, which serves as a model for understanding various forms of multifactorial etiology. Genomic analysis, epidemiology, and mechanistic studies of animal models have revealed that risk factors interact to produce adverse developmental outcomes.

Holoprosencephaly results from genetic and/or environmental factors that disrupt the specification of the midline of the forming forebrain. These alterations result in a wide range of phenotypic consequences for the brain and face of the newly developing human being. They are common in 1 in 250 human fetuses, but 97% do not survive birth. The precise molecular pathogenesis of holoprosencephaly remains unknown. Here, we describe our understanding of the main drivers leading to holoproscencephaly pathologies and elaborate on our multifactorial integrated genomics approach. Genomic technologies provide unprecedented insight into disease-associated variation. A case of prenatal diagnosis of trisomy 13 and holoprosencephaly is described below. In this study, it was possible to establish an accurate anatomical and genetic antenatal diagnosis.

Palabras clave : holoprosencephaly; trisomy 13; genomics.

        · resumen en Español     · texto en Español     · Español ( pdf )