Behavior of the program of cytogenetic prenatal diagnosis
Keywords:
Prenatal diagnosis/methods, Congenital abnormalities.Abstract
Introduction: Chromosomal abnormalities are changes that affect the number and structure of chromosomes. The risk of a chromosomal genetic disease increases with increasing maternal age. Amniocentesis is an important means of cytogenetic prenatal diagnosis for early detection of the same.Objective: to analyze the behavior of the program of prenatal cytogenetic diagnosis in the province of Pinar del Rio in 2013.
Material and methods: a descriptive, retrospective study slitting the total of pregnant women was performed with amniocentesis indication in 2013 in the province of Pinar del Rio, analyzing the main parameters related to the cytogenetic prenatal diagnosis.
Results: in the analyzed period a total of 481 prenatal studies were conducted, with the city of Pinar del Río the highest number of cases. Advanced maternal age is the main display and a total of 10 positive cases were diagnosed to 2.3%.
Conclusions: prenatal cytogenetic diagnosis was achieved clarify the fetal karyotype in pregnant women at risk, so the DPC remains an important program in the early detection of chromosomal abnormalities, providing a starting point for proper genetic counseling to the family.
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1. Méndez Rosado LA, Morales Rodríguez E, Quiñonez Maza O, Barrios Martínez A, Oliva Rodríguez JA, et al. Aniversario 30 del diagnóstico prenatal citogenético en La Habana[Internet]. La Habana: Cuba Salud; 2012 [citado 2 abr 2013]. Disponible en:http://www.convencionsalud2012.sld.cu/index.php/convencionsalud/2012/paper/view/585/261
2. Quintana Hernández D, Hernández Guillada G, Pérez Álvarez I, Dorta García D, Oviedo de la Cruz L, Rodríguez Domínguez M. Evaluación del programa de detección prenatal de anomalías cromosómicas mediante estudios citogenéticas. Revista de Ciencias Médicas La Habana[Internet]. 2013[citado 25 Feb 2014]; 19(3): [aprox.9p.]. Disponible en: http://www.medigraphic.com/pdfs/revciemedhab/cmh-2013/cmh133c.pdf
3. Díaz Véliz Jiménez P, Ocaña Gil M, Sosa Águila L, Vidal Hernández B. Diagnóstico prenatal de mosaicismo 45, X/46, XX con presencia del gen SRY. Presentación de un caso. Medisur[Internet]. 2013[citado 3 May 2013]; 11(5): [aprox.5p.]. Disponible en: http://www.medisur.sld.cu/index.php/medisur/article/view/2259
4. Fernández Hernández L, Domínguez Castro M, Ibáñez Salvador JC, Grether González P, Aguinaga Ríos M. Indicaciones actuales para el diagnóstico prenatal invasivo. Nuevas propuestas basadas en la experiencia del Instituto Nacional de Perinatología. Ginecol Obstet Mex[Internet]. 2013[citado 3 May 2013]; 81: [aprox.6p.]. Disponible en: http://www.medigraphic.com/pdfs/ginobsmex/gom-2013/g om138e.pdf
5. 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[Internet]. 2013[citado 3 May 2013]; 17(3): [aprox.8p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942013000300008&lng=es
6. Espinosa Álvarez DC, Guerrero Jordán D, Fernández Castillo O. Los marcadores cromosómicos, un reto de la genética contemporánea. Multimed[Internet]. 2014[citado 3 May 2013]; 18(1): [aprox.7p.]. Disponible en: http://www.multimedgrm.sld.cu/Documentos%20pdf/Volumen18-1/13.pdf
7. González Herrera L, Rodríguez Royero L, García Rodríguez N, Valero Abreu M, Herrera Martínez M, Jure Rodríguez V. Efectividad de la translucencia nucal aumentada en la detección de embarazos con riesgo de cromosomopatías. Medisur[Internet]. 2014[citado 3 May 2013]; 12(1): [aprox.13p.]. Disponible en: http://www.medisur.sld.cu/index.php/medisur/article/view/2558
8. 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 3 May 2013]; 77(4): [aprox. 10 p.]. Disponible en: http://www.medigraphic.com/pdfs/ginobsmex/gom-2009/gom094b.pdf
9. 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 3 May 2013]; 3(2-3): [aprox. 18 p.]. Disponible en: http://bvs.sld.cu/revistas/rcgc/v3n2_3/cuba.pdf
10. Blanco Pérez I, Mitjáns Torres MC, Miñoso Pérez S, Barroso Gázquez C, Socarrás Gámez A. Resultados en el diagnóstico prenatal citogenético en Pinar del Río. Rev. Ciencias Médicas[Internet]. 2013[citado 3 May 2013]; 17(6): [aprox.9p.]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942013000600009&lng=es&nrm=iso&tlng=es
11. 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[Internet]. 2013[citado 3 May 2013]; 17(3): [aprox.10p.]. Disponible en: http://scielo.sld.cu/pdf/rpr/v17n3/rpr08313.pdf
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