<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>1726-8958</journal-id>
<journal-title><![CDATA[Revista Médica La Paz]]></journal-title>
<abbrev-journal-title><![CDATA[Rev. Méd. La Paz]]></abbrev-journal-title>
<issn>1726-8958</issn>
<publisher>
<publisher-name><![CDATA[Colegio Médico de La Paz]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1726-89582024000100047</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[HOLOPROSENCEFALIA ALOBAR. REPORTE DE CASO]]></article-title>
<article-title xml:lang="en"><![CDATA[ALOBAR HOLOPROSENCEPHALY. CASE REPORT]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ledezma Cuba]]></surname>
<given-names><![CDATA[Laydi Dayanna]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soria Galvarro]]></surname>
<given-names><![CDATA[Nicole Trino]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Caja Nacional de Salud Hospital Materno Infantil Servicio de Obstetricia]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Caja Nacional de Salud Hospital Materno Infantil Obstetricia]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2024</year>
</pub-date>
<volume>30</volume>
<numero>1</numero>
<fpage>47</fpage>
<lpage>52</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_arttext&amp;pid=S1726-89582024000100047&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_abstract&amp;pid=S1726-89582024000100047&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.bo/scielo.php?script=sci_pdf&amp;pid=S1726-89582024000100047&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN Desde el advenimiento de la ecografía obstétrica y estudios invasivos además genéticos fetales han ayudado en la detección antenatal de anormalidades congénitas siendo uno de los objetivos básicos de la vigilancia fetal anteparto. La combinación de ambas técnicas ofrece, hoy en día un abordaje completo en términos de diagnóstico prenatal. Se cree que muchos trastornos del desarrollo surgen de factores de riesgos genéticos y ambientales. Uno de estos es la holoprosencefalia, sirve como modelo para comprender diversas formas de etiología multifactorial. El análisis genómico, la epidemiología y estudios mecánicos de modelos animales han revelado que factores de riesgo interactúan para producir resultados de desarrollo adversos. La holoprosencefalia es consecuencia de factores genéticos y/o ambientales que interrumpen la especificación de la línea media del prosencéfalo en formación. Estas alteraciones dan lugar a una amplia gama de consecuencias fenotípicas para el cerebro y la cara del nuevo ser humano en formación. Son comunes en 1 de 250 fetos humanos, pero el 97% no sobrevive al nacimiento. La patogenia molecular precisa de la holoprosencefalia sigue siendo desconocida. Aquí, describimos nuestra comprensión de los principales factores impulsores que conducen a patologías de holoproscencefalia y elaboramos nuestro enfoque de genómica integrada multifactorial. Las tecnologías genómicas proporcionan una visión sin precedentes de la variación asociada a la enfermedad. A continuación, se describe un caso de diagnóstico prenatal de trisomía 13 y holoprosencefalia. En éste, se logró establecer un diagnóstico antenatal anatómico y genético preciso.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT 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.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[holoprosencefalia]]></kwd>
<kwd lng="es"><![CDATA[trisomía 13]]></kwd>
<kwd lng="es"><![CDATA[genómica]]></kwd>
<kwd lng="en"><![CDATA[holoprosencephaly]]></kwd>
<kwd lng="en"><![CDATA[trisomy 13]]></kwd>
<kwd lng="en"><![CDATA[genomics]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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