How are chromosome studies performed?

Chromosome studies are usually performed on dividing cells. When the cells divide, the chromosomes become visible and can be viewed with a microscope. To perform a chromosome analysis, patient cells are cultured in the laboratory. The dividing cells are harvested and placed on microscope slides. The chromosomes in the dividing cells are stained and analyzed at the microscope by a cytogenetic technologist and Board Certified Clinical Cytogeneticist. A computer aided system expedites the preparation of karotypes (Chromosomes arranged in pairs by size, shape, and staining pattern).

When are chromosome studies needed?

1. Infertility
2. Multiple miscarriages
3. Intrauterine growth retardation
4. Failure to thrive in a baby
5. Birth Defects
6. Abnormal sexual development
7. Congenital malformations
8. Developmental delay or mental retardation
9. Family History of the above
10. Cancer - Neoplasia - Leukemia
11. For prenatal diagnosis
12. Advanced maternal age