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How are chromosomal disorders diagnosed?

Chromosomal disorders can be diagnosed before birth using prenatal tests such as chorionic villus sampling (CVS) or amniocentesis or after birth using a blood test. Cells obtained from these tests are grown in the laboratory, and then the chromosomes are examined under a microscope. A picture of all the person’s chromosomes, arranged in order from largest to smallest is made. This picture is known as a karyotype. The karyotype shows the number, size and shape of the chromosomes and helps genetic experts identify any abnormalities.

Chromosomal disorders are generally identified through family history screenings and prenatal screenings.  When a chromosomal abnormality appears likely, a doctor will perform   a diagnostic chromosomal analysis on blood, cells from the amniotic fluid, or chorionic villus samplings.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.