Chromosomal disorders and Bioethics

Arianna Omaña-Covarrubias, Edwin Alonso Chávez Mejía, A. Nez-Castro, Bertha Maribel Pimentel Pérez, Lydia López-Pontigo
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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.  
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染色体疾病与生命伦理学
人类约有 30,000 个基因,分布在 23 对染色体上,总共有 46 条染色体,其中 23 条与父母各对应。在细胞分裂(包括体细胞和配子的产生)过程中,可能会发生自发或诱发的意外事故,产生染色体异常或染色体病,这些异常或多或少是遗传物质的结果,是某些综合征(如唐氏综合征(21 三体综合征))的病因,也是自然流产、疾病或生长发育问题的病因。近年来,通过 DNA 样本检测染色体异常的技术得到了发展,这对母亲和婴儿都不会造成创伤。因此,染色体病的预防和诊断在母婴保健中具有重要意义。然而,由于染色体病变可能导致胎儿残疾、胎儿死亡或新生儿死亡,父亲的行为对胎儿负有责任,因此这些类型的程序产生了伦理政策和立法。因此,个人医生必须努力提供遗传咨询,指导父母根据自己的思想、文化和社会经济水平做出决定,同时不忘尊重胎儿的生物伦理原则。
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