Know all about Karyotyping test during Pregnancy

1. What is a Karyotype test?

Normally, people have 46 chromosomes, divided into 23 pairs, in each cell. Chromosomes are the parts of your genes, passed down from your parents. Karyotype tests are done to check the number, size, and shape of the chromosomes. It checks whether there are fewer or more chromosomes than the normal 46, or if the size or shape of the chromosomes is irregular or unusual. Karyotyping is immensely helpful in finding out any genetic disorders in a developing fetus. 

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2. When is the Karyotype test done?

During pregnancy, your doctor will advise you to do several prenatal screening tests to ensure that there are no chromosomal disorders or underlying genetic conditions in your baby, one such test is karyotyping, which helps in diagnosing such issues. The test is offered during the first and second trimesters of pregnancy. 

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3. Why is the Karyotype test done?

Karyotyping test is done to check if your baby has signs of any genetic disorders, like:

  • Down syndrome 
  • Edwards syndrome 
  • Patau syndrome 
  • Klinefelter syndrome 
  • Turner syndrome 

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If you are pregnant and have certain risk factors like age (35 years or older) or have a family history of a genetic disorder, a Karyotyping test might be recommended by your doctor. 


If you are having trouble getting pregnant or facing the unfortunate circumstance of miscarriages, Karyotyping test can help to find out whether a chromosomal defect is causing your miscarriages. It also helps doctors to determine if a chromosomal abnormality is preventing you from getting pregnant or causing infertility.

Once the definitive causes are detected through a Karyotyping test, a much more effective diagnostic procedure or future course of action will be advised by your doctor.  

Karyotype tests during pregnancy help in taking a close look at the chromosomes to determine if there is anything unusual. Most women don’t need any further tests or procedures as they get results that are within the normal range. However, if there are indications of any problems or defects, your doctor will advise for follow-up tests, and karyotype testing can help get you the right treatment, at the right time.

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Frequently Asked Questions

When is karyotyping done during pregnancy?

A karyotype is a genetic test taken during pregnancy to identify abnormal chromosomes. This test involves checking a sample of your blood, bone marrow, or a swab test to check your cells for chromosomal abnormalities. If you test positive or have a family history of chromosomal abnormalities, the doctor might suggest testing a sample of the amniotic fluid or tissues from the chorionic villi to check if the baby has it too.

What can a karyotype tell you about an unborn baby?

The karyotype test can tell if the baby has any chromosomal abnormalities that can lead to genetic disorders. If you or your partner has any such disorders or a family history of such disorders, this test can tell if the baby has inherited it too and precisely diagnose what exact disorder they have.

What is the karyotyping test for pregnancy?

Karyotyping is a genetic test done during pregnancy to check for chromosomal abnormalities that can lead to genetic disorders in the baby. If the mother or father has a genetic disorder or has a family history of such chromosomal abnormalities, this test can help determine if the baby has inherited it too.

What does a positive karyotype test mean?

A positive karyotype test means the owner of the sample has a chromosomal disorder. If the test was taken on the mother, the amniotic fluid or tissues from the placenta will be checked next to determine if the baby has it too. Different disorders have different characteristics. So, the test can also help determine what disorder the baby could have inherited.

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