Cytogenetics is the study of an individual’s chromosomes (fetus, infant, child or adult) in order to detect numerical or structural abnormalities. Cytogenic analysis can be performed on various types of cells, such as:

  • Lymphocytes (white blood cells) found in venous blood
  • Amniocytes (cells from the fetus to be born) found in the amniotic fluid
  • Tumor cells found in the bone marrow

Indications for Chromosome Analysis are wide-ranging:

In the Fetus:

  • Positive prenatal screening test
  • Advanced maternal age (AMA)
  • Abnormal ultrasound results

In the Newborn:

  • Dysmorphic syndrome, congenital malformation, psychomotor delay

During Childhood or Adolescence:

  • Mental retardation or delayed development
  • Congenital malformation

In Adulthood:

  • Infertility workup, premature menopause, primary amenorrhea or spermatogenesis problem
  • Repeated miscarriages
  • Family history of chromosome abnormalities

Cancer Patients:

  • To specify the type of leukemia at the time of diagnosis
  • Evaluation of the prognosis and to direct therapeutic decisions
  • Evaluation of the therapeutic response