Results of the Prenatal Cytogenetic Diagnosis in Pinar del Río
Keywords:
Prenatal diagnosis, Sex chromosome aberrations, Genetic translocation, Mosaicism.Abstract
Introduction: the Cytogenetic Prenatal Diagnosis using amniotic liquid cells contitutes the main resource in Cuba to carry out cromosomal studies in pregnant women with risk of having an afected baby.Objective: to describe main chromosomal disorders detected in the cytogenetic prenatal diagnosis in Pinar del Río Province from January 2007 to December 2012.
Material and method: a descriptive, retrospective study was carried out of 2,777 patients referred to the Province Center of Medical Genetics for prenatal studies. Compiled data were: referral causes, number and types of detected chromosomal disorders, and pregnant women with a prenatal diagnosis of congenital malformations, who decided for complete gestation.
Results: during that period a sheer number of 2,777 prenatal chromosomal studies were carried out. The prevalent referral cause was advanced maternal age (75.62% of all cases). A total of 43 fetuses with chromosomal abnormalities, including 28 cases with aneuploidies, 12 with structural reorderings and 3 chromosomal mosaics.
Conclusions: the work was done under diagnostical and technical internationally established criteria for these types of studies, the positiveness percentage was 1.54 and the results obtained were similar to those reported by other studies.
Downloads
References
1- Díaz Véliz Jiménez PA, Garrido Martínez Y, Guerra Jorge A, Vidal Hernández B. Diagnóstico prenatal citogenético en la provincia de Cienfuegos entre los años 2007 y 2010. Medisur [Internet]. 2012 [citado 10 jun 2013]; 10(5):[aprox. 10 p.]. Disponible en: http://medisur.sld.cu/index.php/medisur/article/view/1992/7285
2- Méndez Rosado LA, Morales Rodríguez E, Quiñonez Maza O, Barrios Martinez A, Oliva Rodríguez JA, Nodarse Rodríguez A, et al. Aniversario 30 del Diagnóstico Prenatal Citogenético en La Habana [Internet]. Cuba: Memorias Convención Internacional de Salud Pública; 2012 [citado 10 jun 2013]. Disponible en: http://www.convencionsalud2012.sld.cu/index.php/convencionsalud/2012/paper/view/585/261
3- González García R, Maza Blanes MA, Oliva López Y, Menéndez García R. Programa de Diagnóstico Prenatal Citogenético mediante la amniocentesis en Minas de Matahambre. Rev Ciencias Médicas Pinar del Río [Internet]. 2013 [citado 10 Jun 2013]; 17(3): [aprox. 11 p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942013000300008&lng=es
4- Hernández Triguero Y, Suárez Crespo M, Rivera Esquivel MC, Rivera Esquivel VC. La genética comunitaria en los programas de diagnóstico prenatal. Rev Ciencias Médicas Pinar del Río [Internet]. 2013 [citado 7 Jun 2013]; 17(3):[aprox. 12 p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942013000300009&lng=es
5- Hijona JJ, Zorrilla A, Frutos FJ, Contreras A, Pallarés C, Torres Martí J. Amniocentesis genéticas durante los últimos 6 años en nuestro hospital. Clin Invest Gin Obst [Internet]. 2011 [citado 7 Jun 2013];38(2):[aprox. 6 p.]. Disponible en: http://apps.elsevier.es/watermark/ctl_servlet?_f=10&pident_articulo=90001405&pident_usuario=0&pcontactid=&pident_revista=7&ty=
1&accion=L&origen=elsevier&web=www.elsevier.es&lan=es&fichero=7v38n02a90001405pdf001.pdf
6- Pereda Chávez H, Delgado Aguiar F, Morejón MC, Pérez Expósito Y, Hernández Fernández LM. Comportamiento de los defectos congénitos en San Luis. Rev Ciencias Médicas Pinar del Río [Internet]. 2012 [citado 31 May 2013];16(4): [aprox. 12 p.]. Disponible en: http://scielo.sld.cu/pdf/rpr/v16n4/rpr03412.pdf
7- Cerrillo Hinojosa M, Yerena de Vega MC, González Panzzi ME, Godoy H, Galicia J, Gutiérrez Nájar A. Amniocentesis genética en población de alto riesgo. Experiencia en 3,081 casos. Ginecol Obstet Mex [Internet]. 2009 [citado 16 Feb 2013]; 77(4):[aprox. 10 p.]. Disponible en: http://www.medigraphic.com/pdfs/ginobsmex/gom-2009/gom094b.pdf
8- Marcheco Teruel B. El Programa Nacional de Diagnóstico, Manejo y Prevención de Enfermedades Genéticas y Defectos Congénitos de Cuba: 1981-2009. Rev Cubana Genet Comunit [Internet]. 2009 [citado 16 Feb 2013];3(2-3): [aprox. 18 p.]. Disponible en: http://bvs.sld.cu/revistas/rcgc/v3n2_3/cuba.pdf
9- Martínez de Santelices Cuervo A, Rizo López D, Amor Oruña MT, Fuentes Smith LE. Eficiencia del subprograma de Diagnóstico Prenatal Citogenético en Ciudad de La Habana en el período 2005-2006. Rev Cubana Genet Comunit. 2010; 4(3):49-53. Disponible en: http://www.bvs.sld.cu/revistas/rcgc/v4n3/rcgc080310.pdf
10- Pimentel Benítez HI, García Borrego A, Martín Cuesta N, Alonso Barba Y, Torres Palacios M, Suárez Mayedo U. Diagnóstico Prenatal Citogenético en Camagüey. Resultados de 20 años. Rev Cubana Genet Comunit [Internet]. 2008 [citado 16 Feb 2013];2(3):[aprox. 5 p.]. Disponible en: http://www.bvs.sld.cu/revistas/rcgc/v2n3/PDFs%20Infomed/rcgc07308.pdf
11- Medina Castro D, Castro Llamas J, Grether González P, Aguinaga Ríos M. Alteraciones genéticas y estrategias diagnósticas en muerte fetal. Ginecol Obstet Mex [revista en la Internet]. 2012 [citado 7 Jun 2013];80(5):[aprox. 7 p.]. Disponible en: http://www.medigraphic.com/pdfs/ginobsmex/gom-2012/gom125b.pdf
12- Rodríguez Domínguez PL, Collazo Cantero I. Embarazo y uso del ácido fólico como prevención de los defectos del tubo neural. Rev Med Electrón [Internet]. 2013 [citado 7 Jun 2013]; 35(2): [aprox. 9 p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1684-18242013000200002&lng=es
13- Cortés F, Hirsch S, de la Maza MP. Importancia del ácido fólico en la medicina actual. Rev Méd Chile [Internet]. 2000 [citado 12 Jun 2013]; 128(2):[aprox. 8 p.]. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000200013&lng=es
14- Méndez Rosado LA. Mosaicismo cromosómico en el diagnostico prenatal citogenético por cultivo de amniocitos [Internet]. Ciudad de La Habana: Instituto Superior de Ciencias Médicas de la Habana. Centro Nacional de Genética Médica; 2009 [citado 16 Feb 2013]. Disponible en: http://tesis.repo.sld.cu/205/1/Mendez_Rosado.pdf
15- Méndez Rosado LA, Lantigua Cruz A, Quiñones Maza O, Barrios Martínez A, Soriano Torres M, González García N, et al. Aplicación de una estrategia en el diagnóstico prenatal del mosaicismo cromosómico para la eliminación de falsos positivos. Rev Cubana Genet Comunit [Internet]. 2011 [citado 12 Jun 2013]; 5(1): [aprox. 14 p.]. Disponible en: http://www.bvs.sld.cu/revistas/rcgc/v5n1/rcgc050111.pdf
Published
How to Cite
Issue
Section
License
Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.
Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/
