Contribution to the Struggle Against Chromosomal Abnormalities from Literature Review

Abstract

Chromosomal abnormalities have a variable severity, which can range from lethality before birth to the need for permanent medical care. The objective of this work was to propose a strategy to the struggle against chromosomal abnormalities through Departments of cytogenetics from literature review. Several documents have been consulted on the activities of Departments (or Services) of cytogenetics in relation to health care, ethical, legal and social problems concerning chromosomal abnormalities. In addition there are teaching and international collaboration in the field of cytogenetics. The corresponding articles have been published in journals with editorial, reading and scientific committees. According to this literature review, Services of cytogenetics should emphasize appropriate technologies and affordable prices, which can reach a significant portion of the population. In these Services, genetic counseling respects the right to full information and possible solutions regarding chromosomal abnormalities. Prevention through community sensitization, screening of populations and the possibility of early diagnosis should be carried out. The teaching of cytogenetics is therefore the starting point from which programs to combat chromosomal abnormalities will be introduced. Departments of cytogenetics must be supported by regulatory structures constituted by the scientific, medical and non-professional communities. Research is an important component of medical cytogenetics as well as international collaboration. This work includes a set of coordinated actions whose implementation would deal with chromosomal abnormalities.

Appropriate Means to Vulgarize the Human Cytogenetics

“…The establishment of efficient and reliable cytogenetic services or laboratories constitutes the places for diagnosis of chromosomal abnormalities [5]. These Table 1.…”

“…○ Intended to attract the attention of governments or stakeholders on research results, giving a social, political or economic impact ○ Increase the visibility and understanding of research structures offer tests, including karyotype, fluorescence in situ hybridization (FISH) and comparative genomic hybridization chip (array-CGH) in pre and postnatal. Chromosomal analysis techniques are performed from a variety of samples including amniotic fluid, chorionic villi, peripheral venous blood, bone marrow and lymph nodes [5] [15] [16].…”

“…It is well known that chromosomal disorders are a significant cause of premature death or often lifelong disability [4] [5] [6] [7].…”

“…There are also other factors such as the insufficiency and obsolescence of equipment, lack of qualified human resources and fundings [4] [8] [11]. All these problems therefore prevent the patient to benefit from adequate care and adapted genetic counseling [5] [7]. In view of the aforementioned difficulties, a question arises.…”