Birth defects, delays in development or other health problems can happen if there is a change in the number or structure of the chromosomes. When a person has an unusual chromosome structure, there can be an increased risk of miscarriage or birth defects in future pregnancies.
Your health care provider will talk to you about the test results. Sometimes more genetic testing is ordered. If you have any questions, please ask the provider who ordered this test or your genetic counselor. For directions to the nearest Laboratory Service Center, call or visit our website at: NationwideChildrens.
Skip to Content. Urgent Care. In This Section. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. Updated visitor guidelines. You are here Home » Karyotype Test. Top of the page. Test Overview Karyotype is a test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.
Why It Is Done Karyotyping is done to: Find out whether the chromosomes of an adult have a change that can be passed on to a child. Find out whether a chromosome defect is preventing a woman from becoming pregnant or is causing miscarriages.
Find out whether a chromosome defect is present in a fetus. Karyotyping also may be done to find out whether chromosomal problems may have caused a fetus to be stillborn.
Find out the cause of a baby's birth defects or disability. Help determine the appropriate treatment for some types of cancer. Identify the sex of a person by checking for the presence of the Y chromosome. This may be done when a newborn's sex is not clear. Karyotype Genetic Test. What is a karyotype test? Other names: genetic testing, chromosome testing, chromosome studies, cytogenetic analysis.
What is it used for? A karyotype test may be used to: Check an unborn baby for genetic disorders Diagnose a genetic disease in a baby or young child Find out if a chromosomal defect is preventing a woman from getting pregnant or is causing miscarriages Check a stillborn baby a baby that died late in pregnancy or during birth to see if a chromosomal defect was the cause of death See if you have a genetic disorder that could be passed along to your children Diagnose or make a treatment plan for certain types of cancer and blood disorders.
Why do I need a karyotype test? These include: Your age. The overall risk of genetic birth defects is small, but the risk is higher for women who have babies at age 35 or older. Family history. What happens during a karyotype test? The most common ways to get a sample include: A blood test.
For this test, a health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes. Prenatal testing with amniocentesis or chorionic villus sampling CVS. Chorionic villi are tiny growths found in the placenta.
For amniocentesis: You'll lie on your back on an exam table. Your provider will move an ultrasound device over your abdomen. Ultrasound uses sound waves to check the position of your uterus, placenta, and baby.
Your provider will insert a thin needle into your abdomen and withdraw a small amount of amniotic fluid. Amniocentesis is usually done between week 15 and 20 of pregnancy. For CVS: You'll lie on your back on an exam table.
Your provider will move an ultrasound device over your abdomen to check the position of your uterus, placenta, and baby. Your healthcare provider will get a report from the lab that explains any abnormalities found in your or your child's chromosome analysis. A karyotype picture may also be included in the report. Your healthcare provider should arrange for you to talk with a certified genetic counselor who can help you understand the results of this test.
This test needs a sample of your cells. Your healthcare provider can get the cells in many ways. These are some options:. Taking out a sample of cells from the spongy center of a bone, called the bone marrow.
Bone marrow cells can give healthcare providers important information about blood cancers like leukemia and lymphoma. Taking a sample of amniotic fluid by putting a long, thin needle through the pregnant woman's skin and into the fluid that surrounds the growing fetus. Each method of taking a sample carries certain risks.
Some have more risks than others. Ask your healthcare provider to discuss all the risks and benefits with you before your test.
Depending on how your test is done, certain things may affect your results. Ask your healthcare provider to explain these possibilities to you. Some chromosome analysis tests, such as amniocentesis, bone marrow sampling, or a tissue biopsy, do need special preparation.
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