medigraphic.com
ISSN 1561-3062 (Electronic)

2019, Number 4

<< Back Next >>

Revista Cubana de Obstetricia y Ginecología 2019; 45 (4)

Amniocentesis for Cytogenetic Study and Its Main Indications in Havana, Cuba (2007-2016)

Vázquez MYE, Lemus VMT

Language: Spanish
References: 17
Page: 1-12
PDF size: 608.46 Kb.


ABSTRACT

Introduction: The prenatal diagnosis of chromosomal abnormalities in Cuba began in Havana in 1984, by analyzing the amniotic fluid by amniocentesis in the second trimester of pregnancy. In 1987, diagnosis by chorionic villus analysis was introduced in the first trimester, as part of a subprogram within the National Program for the Diagnosis and Prevention of Genetic Diseases led by the National Center for Medical Genetics.
Objective: To validate that advanced maternal age continues to be the main feature to propose a cytogenetic study in high-risk pregnant women in the province of Havana.
Methods: A descriptive, retrospective, longitudinal-section study was conducted in 12,909 medical records of pregnant women who underwent amniocentesis, proposed in the consultation of Havana Provincial Center for Medical Genetics, from January 2007 to December 2016. Different parameters related to the number of cases per year were analyzed according to different criteria and sensitivity, specificity, positive predictive value and negative predictive value of maternal age were calculated as a predictor of the occurrence of chromosomal abnormalities.
Results: The main criterion for indicating this invasive study was the advanced maternal age in 82% of cases, showing 86% of sensitivity and 95.85% false positive rate. It would be useful to update the prenatal diagnosis subprogram using tools that allow the risk to be recalculated a priori to an individualized risk and to reclassify the population in high genetic risk.
Conclusions: From this study it can be concluded that advanced maternal age constitutes the main criterion for indicating amniocentesis cytogenetic study in high-risk pregnant women in Havana.


REFERENCES

  1. Milunsky A. Amniocéntesis, líquido amniótico y cultivo de células del líquido amniótico. En: Diagnóstico prenatal de las enfermedades hereditarias. [Internet]. Barcelona: Editora Pediátrica; 1975. p. 19-33. [citado: 20/06/2018]. Disponible en: http://scielo.sld.cu/scieloOrg/php/reflinks.php?refpid=S0138-600X199700010000500003&lng=es&pid=S0138-600X1997000100005

  2. Kypros H. Nicolaides. La ecografía de las 11-13+6 semanas. Fetal Medicine Foundation, Londres, [Internet]. 2004. [citado: 20/06/2018]. Disponible en: https://fetalmedicine.com/fmf/FMF-spanish.pdf

  3. Molina Giraldo S, Gaviria AM, Beltrán Acosta S, Castro CA, Rojas Arias JL, Alfonso Arias D, et al. Consecuencias y complicaciones de la amniocentesis. Experiencia de dos centros latinoamericanos de medicina materno fetal. Ginecol Obstet Mex. 2018 abril;86(4):239-246. DOI: https://doi.org/10.24245/gom.v86i4.1014

  4. Parra M, Cruz M, Borobio V, Bennasar M, Goncé A, Martínez JM, et al. Amniocentesis: guía práctica. Diagnóstico Prenatal. [citado: 20/06/2018]. 2014;25(1):20-7. Disponible en: https://10.1016/j.diapre.2013.07.004

  5. Menéndez F, C.H., Quintana J, Quiñones O, Méndez LA, Nazabal I, Cytogenetic Prenatal Diagnosis in Havana. Am J Hum Genet. 1987;43(3). (Supplement).

  6. Quintana J, Oliva J, Rondón R, Nazabal JI, Carrillo L, Menéndez F. Cuban experience of chorionic villus sampling: cytogenetic findings. Data from 1987 to 1989. Early fetal diagnosis: recent progress and public health implication. Eds. Macek MA, Ferguson Smith M, Spala KC. Praga: University Press; 1992.

  7. Heredero L. Comprehensive national genetic program in a developing country: Cuba. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW. (Eds): Genetic Services Provision: An International Perspective. Birth Defects Orig Art Ser. 1992;28(3)52-57.

  8. Aguilar Q. Resultados del diagnóstico prenatal citogenético en las provincias occidentales de Cuba, 1984-1998. Revista cubana de Genética Humana. 1999;1(3).

  9. Danisman N, Kahyaoglu S, Celen S, Kahyaoglu I, Candemir Z, Yesilyurt A, et al. A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women. J Matern Fetal Neonatal Med. 2013;26(3):242-5. DOI: https://doi.org/10.3109/14767058.2012.733756

  10. Ministerio de Salud Pública. Anuario estadístico de salud. [Internet]. 2017 [citado: 20/06/2018]. Disponible en: http://www.one.cu/aec2017.htm

  11. Colectivo de autores. Manual de Normas y Procedimientos para los servicios de genética médica en Cuba. págs. 4 y 5. CDICT. Centro Nacional de Genética Médica. La Habana. Cuba. [Internet]. 2017 [citado: 20/06/2018]. Disponible en: http://www.bvs.sld.cu/libros_texto/manual_normas_proced_genetica/manual_normas_procedim_genetica1.pdf

  12. Quiñones OL, Quintana J, Méndez LA, Barrios A, Suárez U, García M, Del Sol M. Frecuencias de reordenamientos cromosómicos estructurales acorde a las indicaciones para estudios citogenéticos prenatales y postnatales. Rev Cubana Genet Comunit. [Internet]. 2010 [citado: 20/06/2018];4(3):[aprx. 7 p.] Disponible en: http://bvs.sld.cu/revistas/rcgc/v4n3/rcgc060310.pdf

  13. Akolekar R, Beta J, Picciarelli G, Ogilvie C, F. DA. Procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and metaanalysis. Ultrasound Obstet Gynecol. 2015;45(1):16-26. DOI: https://doi.org/10.1002/uog.14636

  14. Theodora M, Antsaklis A, Antsaklis P, Blanas K, Daskalakis G, Sindos M, et al. Fetal loss following second trimester amniocentesis. Who is at greater risk? How to counsel pregnant women? J Matern Fetal Neonatal Med. 2016;29(4):590-5. DOI: https://doi.org/10.3109/14767058.2015.1012061

  15. Llanusa Ruíz C, Nodarse Rodríguez A, Enrique Vázquez Y, Carrillo Bermúdez L, Sánchez Lombana R. Valor de los marcadores epidemiológicos y sonográficos como indicadores de riesgo de cromosomopatías. Rev Cubana Obstet Ginecol. (citado: 20/01/2019)2009;35(4):75-84. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0138-600X2009000400009

  16. Cruz M, Parra M, Borobio V, Bennasar M, Goncé A, Martínez JM, et al. How to perform an amniocentesis. Ultrasound Obstet Gynecol. 2014;44(6):727-31. DOI: https://doi.org/10.1002/uog.14680

  17. WHO recommendations on antenatal care for a positive pregnancy experience, World Health Organization. [Internet]. 2016 (citado: 20/01/2019). Disponible en: http://www.clap.ops-oms.org/publicaciones/9789275320334esp.pdf




2020     |     www.medigraphic.com