Final answer:
Karyotyping is a cytogenetic technique to detect chromosomal abnormalities, performed using cells from chorionic villus sampling or amniocentesis. It allows for the prenatal diagnosis of genetic disorders like Down Syndrome and Turner Syndrome.
Step-by-step explanation:
Karyotyping and Its Use in Prenatal Diagnosis
Karyotyping is a powerful cytogenetic technique used to identify chromosomal abnormalities from a single cell. This process involves the collection of cells from either a blood sample or other tissues, such as those obtained via chorionic villus sampling or amniocentesis during prenatal diagnosis. The laboratory procedure includes the stimulation of cell division, the arrest of chromosomes in metaphase using colchicine, swelling of cells with a hypotonic solution, and preservation in a fixative for slide application. A karyogram, or an ideogram, is then created to visualize the chromosomes, allowing geneticists to identify conditions such as Down Syndrome, Turner Syndrome, Jacobsen Syndrome, and translocations that might result from an abnormal number or structure of chromosomes.
By observing an individual's karyogram, clinicians can detect genetic abnormalities such as the presence of an extra chromosome in the case of Down Syndrome or a missing X chromosome in Turner Syndrome. In addition, genetic mutations such as large deletions or insertions and translocations can also be revealed through karyotyping. Such detailed analysis is crucial for anticipating genetic disorders, providing vital information for expectant parents, and guiding decisions in prenatal care.