Cytogenetics is the study of an individual’s chromosomes in order to detect abnormalities. Analysis can be performed on various types of cells, such as lymphocytes and amniocytes.

Indications for Chromosome Analysis are wide-ranging:

In the Fetus:
• Abnormal 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

During Childhood or Adolescence:
• Developmental delay or mental retardation

In Adulthood:
• Infertility workup, premature menopause, primary amenorrhea (absence of menstruation) or spermatogenesis problem
• Repeated miscarriages
• Family history of chromosome abnormalities