medigraphic.com
ISSN 2520-9078 (Electronic)

2013, Number 3

<< Back Next >>

Revista de Ciencias Médicas de la Habana 2013; 19 (3)

Evaluation of the program of prenatal detection of chromosomic anomalies by cytogenetic studies

Quintana HD, Hernández GG, Pérez AI, Dorta GD, Oviedo CL, Rodríguez DM

Language: Spanish
References: 15
Page:
PDF size: 83.28 Kb.


ABSTRACT

Introduction: the prenatal cytogenetic diagnosis is an effective diagnostic option to know the fetal chromosome complement. Amniocentesis as an obstetric procedure to obtain fetal cells began performing in Mayabeque province in 2010.
Objective: to describe the results of the prenatal detection program of chromosomic anomalies by cytogenetic studies in Mayabeque province in 2011 and 2012.
Methods: it was performed a descriptive, retrospective and longitudinal study that included the total of pregnant women who were indicated prenatal cytogenetic diagnosis in the aforementioned period. Data were obtained from the records of cytogenetics of Mayabeque Provincial Center of Medical Genetics and the clinical histories of each pregnant woman. Different variables were analyzed, including: maternal age, motive for study indication, number of performed diagnoses and types of detected anomalies.
Results: of the 549 patients with cytogenetic study criteria 89.1 % corresponded to pregnant women with advanced maternal age. 477 patients underwent the procedure (86.9%) and within the major causes of failure to complete it, it was found the non-request of the procedure (48.6%). Among the positive results 54.5% corresponded to aneuploidies caused by trisomies in chromosomes 13 and 21.
Conclusions: with the prenatal cytogenetic diagnosis it was possible to specify the fetal chromosome complement in pregnant women at risk and in positive cases a highest quality genetic counseling was achieved.


REFERENCES

  1. 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]. La Habana: Cuba Salud; 2012 [citado 2 abr 2013]. Disponible en: http://www.convencionsalud2012.sld.cu/index.php/convencionsalud/2012/paper/v iew/585/261

  2. Cerrillo Hinojosa M, Yerena de Vega MC, González Panzzi ME, Godoy H, Galicia J, Gutiérrez Májar A. Amniocentesis genética en población de alto riesgo. Experiencia en 3,081 casos. Ginecol Obstet Mex [Internet]. 2009 [citado 2 abr 2013];77(4). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/19496509

  3. Díaz-Véliz-Jiménez P, 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 2013 Abr 2];10(5). Disponible en:http://medisur.sld.cu/index.php/medisur/article/view/1992/7285

  4. 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 2013 Abr 2];2(3). Disponible en: http://bvs.sld.cu/revistas/rcgc/v2n3/PDFs%20Infomed/rcgc07308.pdf

  5. Méndez Rosado LA, Quiñones Maza O. Diagnóstico Prenatal Citogenético mediante cultivo de amniocitos. Rev Cubana Genet Comunit [Internet]. 2009 [citado 2013 abr 2];3(1). Disponible en:http://www.bvs.sld.cu/revistas/rcgc/v3n1/pdf/rcgc030109.pdf

  6. Marcheco Teruel B. La genética en la Salud Pública: el desafío del acceso de todos a los beneficios. Rev Cubana Genet Comunit [Internet]. 2007 [citado 2013 abr 2];1(1). Disponible en:http://bvs.sld.cu/revistas/rcgc/v1n1/gcoed107.pdf

  7. Soler-Casas A, Sánchez-Díaz A, Morales-Peydró C. Impacto del diagnóstico prenatal en la prevención del retraso mental de causa cromosómica. Alteraciones cromosómicas detectables mediante diagnóstico prenatal. Rev Neurol [Internet]. 2006 [citado 2013 Abr 2];42(1). Disponible en: http://www.revneurol.com/LinkOut/formMedLine.asp?Refer=2005705&Revista=Re vNeurol

  8. 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 [Internet]. 2010 [citado 2013 Abr 2];4(3). Disponible en: http://bvs.sld.cu/revistas/rcgc/v4n3/rcgc080310.pdf

  9. Wald NJ. Prenatal screening for open neural tube defects and down syndrome: three decades of progress. Prenat Diagn[Internet].2010 [citado 2013 Abr 2];30. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/20572104

  10. Marcheco Teruel B. El programa nacional de diganóstico, manejo y prevención de enfermedades genéticas y defectos congénitos de Cuba: 1981-2009. Rev Cubana Genet Comunit [Internet]. 2009 [citado 2013 Abr 2];3(2-3). Disponible en:http://bvs.sld.cu/revistas/rcgc/v3n2_3/cuba.pdf

  11. Sabria J, Comas C, Barceló-Vidal C, Illa M, Echevarria M, Gomez-Roig MD, Borrell A. Cumulative sum plots and retrospective parameters in first-trimester ductusvenosus quality assurance. Prenat Diagn [Internet]. 2013 [citado 2013 abr 2];14. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/23494871

  12. Demirturk F, Caliskan AC, Aytan H, Sahin S. A preliminary retrospective study about the relationship between ductus venosus Doppler indices, nuchal translucency (NT) and biochemical markers in the first and second trimester screening tests. Gynecol Endocrinol [Internet]. 2012 [citado 2013 abr 2];28(5). Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/22364171

  13. González García R, Maza Blanes MA, Oliva López Y, Menéndez García R. La Genética Comunitaria en los programas de diagnóstico prenatal en el municipio Minas de Matahambre. Rev. Ciencias Médicas [Internet]. 2012 [citado 2013 abr 2];16(6). Disponible en: http://scielo.sld.cu/pdf/rpr/v16n6/rpr02612.pdf

  14. Wallerstein R, Yu MT, Neu RL, Benn P, Bowen CL, Crandall B, et al. Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotypephenotype correlations. Prenat Diagn [Internet]. 2000 [citado 2013 abr 2];20. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/10694683

  15. Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet [Internet]. 1991 [citado 2013 abr 2];49. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1683246/




2020     |     www.medigraphic.com