How are chromosomal abnormalities in pregnancy detected?

 Chromosomal abnormalities in pregnancy can cause problems for the child. It can cause conditions like down syndrome, Klinefelter syndrome, Turner syndrome, and other such problems. All these conditions occur when the baby either has an extra chromosome, a missing chromosome, or a chromosome that is abnormal. These conditions can lead to birth defects with heart problems, growth problems, etc.

A chromosomal karyotype blood test can help in detecting chromosomal abnormalities in pregnancy. This testing is also known as cytogenetic analysis. The following is information about this test and its functions:

  • Women who are more than 35 years old at the time of pregnancy, those who have a history of miscarriages, and those who have a child or family member with chromosomal defects should undergo the chromosomal karyotype blood test.
  • The tests can be done if any issues are found during prenatal screening.
  • The tests can help not only detect birth defects but can also find out if there are any chromosomal problems causing cancer. This will help in planning proper treatment.
  • If the test done is chorionic villus sampling, then it is done between the 10th and 13th weeks. If the test done is amniocentesis, then it is done between the 15th and 20th weeks.
  • Tests use samples taken from the placenta or amniotic fluid. The process may lead to a miscarriage and so the test is done only if there a high risk of the baby having a possible problem.
  • For cancer patients, this test is done taking a bone marrow sample.
  • The tests would clearly reveal if the baby has a genetic problem.

Those who are at risk of having babies with Chromosomal abnormalities in pregnancy should undergo testing to ensure there are no birth defects or problems with the baby. The test results can help doctors suggest further action.

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