Description: Karyotype assessment involves analyzing the number and structure of chromosomes for genetic diagnosis. This process is fundamental in medical genetics, as it allows for the identification of chromosomal abnormalities that may be associated with various genetic conditions and diseases. During the evaluation, cells from the patient are obtained, usually from blood, bone marrow, or tissue, and cultured to increase their number. Subsequently, they are halted in the metaphase stage of mitosis, where chromosomes are more visible. Through staining techniques, chromosomes can be observed and classified, allowing for the detection of duplications, deletions, translocations, and other structural alterations. Karyotype assessment is not only crucial for diagnosing genetic disorders but also plays an important role in biomedical research, genetic counseling, and treatment planning. Additionally, it is used in the study of fertility and in the evaluation of recurrent spontaneous abortions, providing valuable information about the genetic health of individuals and their offspring.
History: Karyotype assessment has its roots in early genetic studies, dating back to the late 19th and early 20th centuries. In 1956, the human diploid number was established at 46 chromosomes, thanks to advances in staining techniques and microscopy. Over the decades, karyotype assessment has evolved with the development of new technologies, such as fluorescence in situ hybridization (FISH) and genomics, which have improved the accuracy and ability to detect chromosomal abnormalities.
Uses: Karyotype assessment is primarily used in the diagnosis of genetic disorders, such as Down syndrome, Turner syndrome, and Klinefelter syndrome. It is also applied in the investigation of infertility, in the analysis of recurrent spontaneous abortions, and in the evaluation of hematological neoplasms. Additionally, it is an essential tool in genetic counseling, helping families understand the risks of transmitting genetic conditions.
Examples: An example of karyotype assessment use is in prenatal diagnosis, where the fetus’s karyotype is analyzed to detect chromosomal abnormalities. Another case is in patients with leukemia, where a karyotype is performed to identify specific alterations that can guide treatment. It is also used in fertility studies, where the karyotype of parents is evaluated to determine if there are abnormalities that may affect conception.
