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A test that examines and identifies the size, number and shape of the chromosomes in a cell sample is known as karyotyping. Missing or extra chromosomes of abnormal shape and size can cause several genetic disorders. Usually, karyotyping is performed for:

  • Detecting a chromosome defect which may cause issues like multiple miscarriages in women
  • Identifying the existence of chromosome defects in the fetus.
  • Determining abnormal chromosomes.
  • Examining the newborn that has developmental delays or unusual features.
  • Identifying the sex of the baby.

The test can be done on tissues like bone marrow, placenta, amniotic fluid, blood etc. Blood is the most common choice among them. If the test is done during pregnancy, placenta samples or amniotic fluid will be chosen. The procedure is done using a sample tissue which will be placed in a laboratory dish. The size, shape, and number of chromosomes will be checked in the laboratory using a microscope. The sample stained will be then photographed in order to show the arrangement of chromosomes. This procedure is referred to as karyotyping. Karyotyping helps in identifying various genetic defects.



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