Cytogenetic studies in patients with reproductive failure. Pinar del Río, 2015-2020
Keywords:
KARYOTYPE, FERTILITY, ABORTION, SPONTANEOUS, CHROMOSOME ABERRATIONS, PATIENT.Abstract
Introduction: cytogenetic study in peripheral blood lymphocytes is a widely used tool for the diagnosis of different chromosomal pathologies of genetic origin in patients with reproductive failure.
Objective: to describe the results of postnatal cytogenetic diagnosis in patients with reproductive failure.
Methods: a descriptive, retrospective study was carried out in Pinar del Río province from January 2015 to December 2020, based on the results of chromosomal diagnosis in peripheral blood in patients who were referred to the provincial center of medical genetics for reproductive failures, which were classified into 3 groups according to the indication criteria.
Results: in the analyzed period, 12 cases with chromosomal anomalies were diagnosed, where 58,3 % corresponded to numerical chromosomal aneuploidies, 25 % to chromosomal mosaics and 17 % to structural chromosomal aberrations. It should be pointed out that 9 % of the diagnosed cases presented polymorphic variants, especially of chromosome-9. Spontaneous abortion was the most frequent reason for indication for cytogenetic study.
Conclusions: the importance of cytogenetic study in peripheral blood is relevant in people with reproductive failure, in order to establish an accurate and timely diagnosis and to provide genetic counseling with etiological elements for the future reproductive options of these couples.
Downloads
References
1. Torres Pérez M, Ortiz Labrada YM, Pérez Rodríguez M, Torres Pérez M. Principales causas de infertilidad en parejas atendidas en consulta municipal, Policlínico Guillermo Tejas Silva de Las Tunas. RevEugEsp [Internet].2021 [citado 21/03/2021]; 15(1): [aprox. 13 p.]. Disponible en:http://scielo.senescyt.gob.ec/scielo.php?script=sci_arttext&pid=S2661-67422021000100030.
2. Reyes Tapanes Md, Díaz Ojeda JL, Domínguez Blanco AR. Infertilidad en las parejas cubanas: de la prevención a la reproducción asistida. Prog [Internet].2020 [citado 21/05/2021]; 3(2): [aprox.14 p.]. Disponible en: http://www.revprogaleno.sld.cu/index.php/progaleno.
3. Vendrell X. La genética reproductiva. Pensamiento [Internet]. 2017 [citado 19/11/2020]; 73(276): [aprox. 14 p.]. Disponible en:https://revistas.comillas.edu/index.php/pensamiento/article/view/7998/7739.
4. Mora Alferez P, Paredes D, Rodríguez O, Quispe E, Chavesta F, de Zighelboim EK, et al. Anomalías cromosómicas en abortos espontáneos. Rev peru. Ginecol. Obstet. [Internet]. 2016 [citado 19/11/2020]; 62(2): [aprox. 11 p.]. Disponible en: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S2304-51322016000200002
5. Okutman O, Rhouma MB, Benkhalifa M, Muller J, Viville S. Genetic evaluation of patients with non-syndromic male infertility. J Assist Reprod Genet [Internet]. 2018[citado 19/11/2020]; 35(11): [aprox. 13 p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240550/
6. Ávila Darcia S, Gutiérrez Gómez J. Aborto Recurrente Med Leg. Costa Rica [Internet]. 2017 [citado 19/11/2020]; 34(1): [aprox. 11 p.]. Disponible en: https://www.scielo.sa.cr/scielo.php?script=sci_abstract&pid=S1409-00152017000100226&lng=en&nrm=iso&tlng=es
7. Esparza García E, Cárdenas Conejo A, Huicochea Montiel JC, AráujoSolís MA. Cromosomas, cromosomopatías y su diagnóstico. Rev MexPediatr[Internet]. 2017 [citado 19/11/2020]; 84(1): [aprox. 10 p.]. Disponible en: https://www.medigraphic.com/pdfs/pediat/sp-2017/sp171g.pdf
8. Pimentel BenítezHI, Martín CuestaN, García Borrego A, Gómez Benítez Z, Angulo Cebada E, Iglesias Carnot HE. Trastornos de la fertilidad y aberraciones cromosómicas asociadas. AMC [Internet]. 2011 [citado 19/11/2020]; 15(5): [aprox. 11p.].Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1025-02552011000500003
9. Méndez Rosado LA, Galarza Brito JE. Acerca de ciertas variantes estructurales del genoma humano. Rev Cubana Genet Comunit [Internet]. 2017 [citado 19/11/2020]; 11(3): [aprox. 7 p.]. Disponible en: http://www.revgenetica.sld.cu/index.php/gen/article/view/41/65.
10. Díaz-Véliz Jiménez PA, Vidal Hernández B,González Santana I. Diagnóstico prenatalcitogenético y ultrasonográfico de síndrome dePatau. Presentación de un caso. Medisur [Internet]. 2016 [citado 21/05/2021]; 14(5): [aprox. 6 p.]. Disponible en:http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-897X2016000500016&lng=es.
11. Perdomo Arrién JC, Luna Ceballos EJ, Castro López M. Factores del riesgo reproductivo preconcepcional en varones con trastornos de la fertilidad. revgencom [Internet]. 2018 [citado 19/11/2020]; 12(1): [aprox. 12 p.]. Disponible en: http://www.revgenetica.sld.cu/index.php/gen/article/view/16.
12. Corominas A, Laiseca J, Serale C, Matilla Mendez L, Castañon A, Cruz C, Refort JP, Pérez MS, Benasayag S. El polimorfismo 9ph o inv (9) tendría un rol significativo en pacientes con problemas reproductivos. Revista Bioanálisis [Internet]. 2020 [citado 21/03/2021]: [aprox. 8 p.]. Disponible en:http://www.revistabioanalisis.com/images/flippingbook/Rev%20102n/Nota%202.pdf.
13. Pal AK, Ambulkar PS, Waghmare JE, Wankhede V, Shende MR, Tarnekar AM. Chromosomal Aberrations in Couples with Pregnancy Loss: A Retrospective Study. J HumReprodSci [Internet]. 2018 [citado 19/11/2020]; 11(3): [aprox. 7 p.]. Disponible en: https://europepmc.org/article/pmc/pmc6262666#free-full-text.
14. Rivas Álpizar E, Otero Pérez I, Rojas Quintana P, Reyes Pérez A. Polimorfismo del cromosoma 9. Presentación de dos casos. Medisur [Internet]. 2017 [citado 19/11/2020]; 15(5): [aprox. 4 p.]. Disponible en: http://scielo.sld.cu/pdf/ms/v15n5/ms17515.pdf.
15. Díaz-Véliz Jiménez Pedro Alí, Vidal Hernández Belkis, González Santana Iliana, Portero Cabrera Doris, Sosa Águila Leydi María. Diagnóstico prenatal de atresia duodenal en feto con Síndrome Down. A propósito de un caso. Medisur [Internet]. 2020 Abr [citado 21/05/2021]; 18(2): 272-278. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-897X2020000200272
16. Reyes Reyes E, Orive Rodríguez NM, Silva González GK, Romero Portelles L, Díaz Plá I. Aberraciones cromosómicas como causa de infertilidad: diagnóstico y asesoramiento genético en Las Tunas. RevElect Dr. Zoilo E. MarinelloVidaurreta [Internet]. 2017[citado 19/11/2020]; 42(2): [aprox. 7 p.]. Disponible en: http://www.revzoilomarinello.sld.cu/index.php/zmv/article/view/1045/pdf_388.
17. Méndez Rosado LA, Molina Gamboa O, Miñoso Pérez S, Blanco Pérez I, Barrios Martínez A, de la Torres Santos ME. Caracterización de tres pacientes con marcador cromosómico supernumerario derivados de una inv dup (15). ResearchGate [Internet]. 2020 [citado 19/11/2020]:[aprox. 13 p.]. Disponible en: https://www.researchgate.net/publication/343510394.
18. Potapova T, Gorbsky GJ. The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis. Biology [Internet]. 2017 [citado 19/11/2020]; 6(1): [aprox. 33 p.]. Disponible en: https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5372005&blobtype=pdf0.
19. Díaz-Véliz Jiménez Pedro, Vidal Hernández Belkis, Pérez Pérez Alicia, Velázquez Martínez Teresa. Detección de translocaciones cromosómicas mediante diagnóstico citogenético. Cienfuegos, 2006-2016. Medisur [Internet]. 2018 Feb [citado 21/05/2021]; 16(1): 29-34. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1727-897X2018000100006&lng=es.
20. Espinosa Reyes Tania M., Valdés Gómez Wendy, Pérez López Henry. Mosaicismo sexual. Rev Cubana Endocrinol [Internet] .2019 Dic [citado 21/05/2021]; 30(3): e176. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-29532019000300007&Ing=es.
Downloads
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/
