Chromosomal disorders and Bioethics

Keywords: Chromosomopathies, Bioethics, Genetic counselling

Abstract

The human being has approximately 30,000 genes, distributed in 23 pairs of chromosomes, giving a total of 46 chromosomes of which 23 correspond to each parent. Durin the process of cell division, both somatic and gametogenesis, spontaneous or induced accidents may occur that produce chromosomal anomalies or chromosomopathies that result from a grater or lesser amount of hereditary material and are the cause of some syndromes such as Down syndrome (trisomy twenty-one), but also of spontaneous abortions and diseases or problems in growth and development. In recent years, techniques have been developed with which chromosomal anomalies can be detected from a DNA sample that does not turn out to be non-traumatic for the mother or baby. Reason why the prevention and diagnosis of chromosomopathies has gained great relevance in maternal and child health care. However, these types of procedures have created ethical policies and legislation by virtue of the responsibility of paternal action on the fetus, in the presence of a chromosomal alteration that can culminate in disability or fetal or neonatal death. For this reason, the personal physician must seek to provide genetic counseling that guides parents in making decisions in accordance with their ideology, culture, and socioeconomic level, without leaving aside respect for the bioethical principles of the fetus, which is why that the development of international consensus that directs the implementation of genetic counseling is essential.

 

Downloads

Download data is not yet available.

References

Rodríguez, A. (2011). Main chromosome aberrations among 4617 chromosomal studies at a third level pediatric Mexican hospital in 19 years period of time. Int J Genet Mol Biol. 2011, 3(11): 161-184.

National Human Genome Research Institute. Cromosomas. [Internet]. 2019. [Fecha de acceso: enero de 2024]. Recuperado de: https://www.genome.gov/es/about-genomics/fact-sheets/Cromosomas

Melcón, A. (2011). cromosomopatías: discapacidades e implicaciones terapéuticas. REDUCA (Enfermeria, Fisioterapia y Podologia), 3(1): 102-113

Esparza-García E, Cárdeas-Conejo, A, Huicochea-Montiel JC, Aráujo-Solís MA- Cromosomas, cromosomopatías y su diagnóstico. 2017; 84 (1): 30-39

National Human Genome Research Institute. Anomalías Cromosómicas [Internet]. 2019. [Fecha de acceso: enero de 2024]. Recuperado de: https://www.genome.gov/es/about-genomics/fact-sheets/Anomal%C3%ADas-Cromos%C3%B3micas

Acevedo GS. La práctica de la medicina materno-fetal basada en la evidencia. Perinatol Reprod Hum. 2018; 32 (3): 93-94

Huamán GM. MEdicina fetal: actualidad. Revista Peruana de Ginecología y Ostetricia. 2016; 62 (2): 183-187

Rodríguez, A., Llanusa,C., Castillo, Y., Lombana, R., Carrillo, L., Peña, R. (2009). Marcadores ecográficos del segundo trimestre como indicadores de riesgo de cromosomopatías. Revista Cubana de Obstetricia y Ginecología. 35(4). 85-98

Robaina C. Consideraciones bioéticas del diagnóstico prenatal. 2008; 3 (1): 47-55

Ballesteros de Valderrama, B., Novoa, M., Muñoz, L., Suarez, F.,Zarante, I. (2006). Calidad de vida en familias con niños menores de dos años afectados por malformaciones congénitos. Perspectiva del cuidador principal. Universitas Psychologica 5(3). 457-473

Esparza-Garcia, E., Cardenas-Conejo,A., Huicochea-Montiel, J.Araujo-Solis, M. (2017). Cromosomas, cromosomopatías y su diagnóstico. 84(1), 30-39

Chirino G, Salazar G, García M. Valores éticos en perinatología. El feto como paciente. Salus. 2019; 23 (1): 7-11

Comisión De Bioética Del Estado De Coahuila De Zaragoza. (2013). ¿QUÉ ES LA BIOÉTICA?. COMISIÓN NACIONAL DE BIOÉTICA. México.

Casagrandi, D. (2005). Algunos aspectos éticos del diagnóstico prenatal, la medicina y terapia fetales. Hospital Ginecoobstétrico Docente "Ramón González Coro"

Taboada L, N. Consideraciones éticas en el diagnóstico prenatal y el asesoramiento genético. Humanidades Médicas. 2017; 17 (1): 2-16

Rasmussen A, Alonso E. El diagnóstico predictivo genético y sus implicaciones. 2002; 25 (1): 9-14

Mompó, C., Cornejo, J. (2019). Análisis de las implicaciones éticas y sociales del diagnóstico genético. Universidad Politécnica de Valencia.

Valdés, E., Soto, E., Castillo, S. (2008). Consideraciones científicas y éticas en las perspectivas diagnósticas y terapéuticas en medicina fetal. Revista Médica Chile. 136: 1197-1202

Published
2024-07-05