<?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>0034-7531</journal-id>
<journal-title><![CDATA[Revista Cubana de Pediatría]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Pediatr]]></abbrev-journal-title>
<issn>0034-7531</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0034-75312020000200003</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Características del diagnóstico prenatal por hibridación fluorescente in situ en Cuba]]></article-title>
<article-title xml:lang="en"><![CDATA[Features of the prenatal diagnosis by fluorescence in situ hybridization in Cuba]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Méndez Rosado]]></surname>
<given-names><![CDATA[Luis Alberto]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Molina Gamboa]]></surname>
<given-names><![CDATA[Odalis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Castelvi Lopez]]></surname>
<given-names><![CDATA[Arlay]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Soriano Torres]]></surname>
<given-names><![CDATA[Michel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Suarez Mayedo]]></surname>
<given-names><![CDATA[Ursulina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Garcia Rodríguez]]></surname>
<given-names><![CDATA[Minerva]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Barrios Martinez]]></surname>
<given-names><![CDATA[Anduriña]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Nacional de Genética Médica  ]]></institution>
<addr-line><![CDATA[La Habana ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>92</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0034-75312020000200003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0034-75312020000200003&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0034-75312020000200003&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: El diagnóstico prenatal mediante la hibridación fluorescente in situ disminuye el tiempo de diagnóstico al no ser necesario el cultivo celular.  Objetivo: Describir las características y experiencias del diagnóstico prenatal por hibridación fluorescente in situ en Cuba.  Método: En amniocitos in situ se aplicaron sondas CEP y LSI para la detección de aneuploidías de los cromosomas 21,18,13, X y Y y sondas LSI para la detección de deleciones asociadas a síndromes de microdeleción.  Resultados:  Se remitieron al Centro Nacional de Genética Médica 629 casos de alto riesgo genético. Prevaleció la indicación de alteraciones fetales detectadas por ecografía. En 612 (97 %) casos se obtuvo un diagnóstico satisfactorio, entre ellos, 50 (8,1 %) casos positivos, con predominio del síndrome Down en 26 casos. Se corroboraron por citogenética convencional 312 casos con 98 % de concordancia con los resultados obtenidos por hibridación fluorescente in situ. Se utilizó el líquido amniótico refrigerado para corroborar casos de diagnóstico dudoso obtenido por citogenética y se detectaron 3 fetos con mosaicos cromosómicos, el origen de un cromosoma marcador y la definición del sexo fetal en un caso.  Conclusiones: Con la tecnología por hibridación fluorescente in situ el diagnóstico prenatal logra una segura opción de análisis en aquellos casos de embarazos de alto riesgo genético. Debido a limitaciones tecnológicas, la prueba por hibridación fluorescente in situ en células amnióticas en interfase, se ha adaptado a nuestras condiciones, para lograr siempre un diagnóstico seguro con el menor perjuicio posible a la embarazada, el feto y su familia.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction: Prenatal diagnosis by fluorescent in situ hybridization decreases the time of diagnosis not being necessary the cell culture.  Objective:  To describe the characteristics and experiences of prenatal diagnosis by fluorescent in situ hybridization in Cuba.  Method:  In in situ amniocytes CEP catheters were applied and LSI for the detection of aneuploidies of the 21,18,13, X and Y chromosomes, and LSI catheters for the detection of deletions associated with microdeletion syndromes.  Results:  629 cases of high genetic risk were referred to the National Center of Medical Genetics. There was a prevalence of the indication of fetal abnormalities detected by ultrasound. In 612 (97%) cases the diagnosis was achieved in a satisfactory form, among them 50 (8.1%) positive cases, with predominance of Down syndrome in 26 cases. There were corroborated 312 cases by conventional cytogenetics with 98% of agreement with the results obtained by fluorescent in situ hybridization. It was used the cooled amniotic fluid to corroborate cases of uncertain diagnosis obtained by cytogenetics and there were detected 3 fetuses with chromosomal mosaics, the origin of a marker chromosome and the definition of fetal sex in one case.  Conclusions:  With the technology by fluorescent in situ hybridization, the prenatal diagnosis achieved a safe analysis option in cases of genetic high-risk pregnancies. Due to technological limitations, the test by fluorescent in situ hybridization in amniotic cells in interphase has adapted to the conditions in order to always achieve a safe diagnosis with the less possible damage to the pregnant women, the fetus and its family.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[diagnóstico prenatal]]></kwd>
<kwd lng="es"><![CDATA[citogenética molecular]]></kwd>
<kwd lng="es"><![CDATA[hibridación fluorescente in situ]]></kwd>
<kwd lng="es"><![CDATA[aneuploidía]]></kwd>
<kwd lng="en"><![CDATA[prenatal diagnosis]]></kwd>
<kwd lng="en"><![CDATA[molecular cytogenetics]]></kwd>
<kwd lng="en"><![CDATA[fluorescence in situ hybridization]]></kwd>
<kwd lng="en"><![CDATA[aneuploidy]]></kwd>
</kwd-group>
</article-meta>
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