<?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>2709-7927</journal-id>
<journal-title><![CDATA[Acta Médica del Centro]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd centro]]></abbrev-journal-title>
<issn>2709-7927</issn>
<publisher>
<publisher-name><![CDATA[Hospital Provincial Clínico Quirúrgico Universitario Arnaldo Milián Castro]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2709-79272022000200207</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Aberraciones cromosómicas y defectos congénitos asociados al onfalocele]]></article-title>
<article-title xml:lang="en"><![CDATA[Chromosomal abnormalities and congenital defects associated with omphalocele]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Taboada Lugo]]></surname>
<given-names><![CDATA[Noel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Algora Hernández]]></surname>
<given-names><![CDATA[Ana Esther]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[de la Torre Santos]]></surname>
<given-names><![CDATA[María Elena]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Herrera Martínez]]></surname>
<given-names><![CDATA[Manuela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Noche González]]></surname>
<given-names><![CDATA[Gisela]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Arcas Ermeso]]></surname>
<given-names><![CDATA[Gretsy]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Provincial de Genética Médica de Villa Clara  ]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad de Ciencias Médicas de Villa Clara  ]]></institution>
<addr-line><![CDATA[Santa Clara Villa Clara]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>16</volume>
<numero>2</numero>
<fpage>207</fpage>
<lpage>219</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S2709-79272022000200207&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S2709-79272022000200207&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S2709-79272022000200207&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  el onfalocele es uno de los defectos de la pared abdominal anterior más frecuentes.  Objetivos:  determinar la tasa de prevalencia ajustada y describir la efectividad de los métodos de diagnóstico prenatal, las aberraciones cromosómicas y los defectos congénitos más frecuentemente asociados al onfalocele.  Métodos:  se realizó un estudio observacional descriptivo de tipo retrospectivo en la Provincia de Villa Clara entre enero de 2010 y diciembre de 2019. Los datos fueron obtenidos de los Registros cubanos de malformaciones congénitas. El universo quedó constituido por los 26 casos diagnosticados pre o postnatalmente con onfalocele. La población de referencia fueron los 75 397 recién nacidos vivos y los 448 nacidos muertos durante el período.  Resultados:  la tasa de prevalencia ajustada fue de 3,4 por 10 000 nacimientos. Se diagnosticaron prenatalmente el 96% de los casos, la sensibilidad de la determinación sérica materna de alfa fetoproteína fue de 13,8%, mientras que el ultrasonido prenatal tuvo una sensibilidad de un 96%. En 12 de los 26 casos con onfalocele (46%) se constató algún otro defecto congénito mayor asociado, los que con mayor frecuencia se identificaron fueron los musculoesqueléticos (31,8%) y los cardiovasculares (22,7%).  Conclusiones:  la prevalencia ajustada observada fue discretamente superior a la informada en la literatura, lo que pudiera deberse a la inclusión de todos los casos producto de las interrupciones de la gestación. El ultrasonido constituyó el método más efectivo de diagnóstico prenatal. Los defectos musculoesqueléticos y cardiovasculares fueron los más frecuentemente asociados, sobre todo en los casos con aneuploidías cromosómicas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  omphalocele is one of the most frequent defects of anterior abdominal wall.  Objectives:  to determine the adjusted prevalence rate and to describe the effectiveness of prenatal diagnostic methods, chromosomal abnormalities and congenital defects most frequently associated with omphalocele.  Methods:  a retrospective descriptive observational study was carried out in Villa Clara Province between January 2010 and December 2019. Data were obtained from the Cuban registry of congenital malformations. The universe was constituted by the 26 cases diagnosed pre or postnatally with omphalocele. The reference population was 75 397 live newborns and 448 stillbirths during the period.  Results:  the adjusted prevalence rate was 3.4 per 10 000 births. Prenatal diagnosis was made in 96% of cases, the sensitivity of maternal serum alpha fetoprotein determination was 13.8%, while prenatal ultrasound had a sensitivity of 96%. In 12 of the 26 cases with omphalocele (46%) some other associated major congenital defect was found, the most frequently identified were musculoskeletal (31.8%) and cardiovascular (22.7%).  Conclusions:  the adjusted prevalence observed was slightly higher than that reported in the literature, which could be due to the inclusion of all cases resulting from gestational interruptions. Ultrasound was the most effective method of prenatal diagnosis. Musculoskeletal and cardiovascular defects were the most frequently associated, especially in cases with chromosomal aneuploidy.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[onfalocele]]></kwd>
<kwd lng="es"><![CDATA[prevalencia]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico prenatal]]></kwd>
<kwd lng="es"><![CDATA[anomalías congénitas]]></kwd>
<kwd lng="es"><![CDATA[aberraciones cromosómicas]]></kwd>
<kwd lng="en"><![CDATA[omphalocele]]></kwd>
<kwd lng="en"><![CDATA[prevalence]]></kwd>
<kwd lng="en"><![CDATA[prenatal diagnosis]]></kwd>
<kwd lng="en"><![CDATA[congenital abnormalities]]></kwd>
<kwd lng="en"><![CDATA[chromosome aberrations]]></kwd>
</kwd-group>
</article-meta>
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