Impact Factor In Cytogenetics
Cytogenetics is that the branch of
genetics that studies the structure and behavior of
chromosomes and their reference to human disease and disease processes. During the past three decades, the importance of
clinical cytogenetics to the practice of obstetrics and gynecology has dramatically increased because
clinical cytogenetics features a direct effect on the diagnosis, management, and prevention of many disorders that are caused by
chromosome aberrations. For many
chromosome disorders, physicians face medicolegal responsibilities in the areas of counseling, screening, and diagnosis, and obstetricians and gynecologists therefore must have knowledge about the human
chromosome constitution and be able to apply basic principles of
chromosome behavior to clinical practice. This chapter reviews important concepts and developments in
cytogenetics and highlights their applications within the practice of obstetrics and gynecology.
Chromosomal analysis can be performed on
cells derived from many sources, including peripheral blood lymphocytes, fetal blood, oocytes and spermatozoa, blastomeres of embryos, chorionic villi, amniotic fluid cells, skin, bone marrow, fetal
tissues (e.g. lung, liver), solid tumors, and ascites.
The first step in a
chromosome analysis requires appropriate collection of the specimen. For example, peripheral blood and fetal blood samples must be placed in tubes containing sodium heparin to prevent clotting, whereas fetal
tissues should be placed in sterile, balanced salt solutions to prevent dehydration. These suggestions may appear obvious and mundane, but a critically important
chromosome analysis often can't be performed because the specimen is contaminated, placed during a fixative (e.g. formalin), or allowed to dehydrate.
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