Genetic Testing

Genetic testing involves examining your DNA and the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease. It is performed by analyzing the blood samples or tissues of the body. It can also help identify, if either you, your partner, or the baby you are carrying have any genetic abnormalities.

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This technology has been developed in order to identify any missing or deformed genes. Your doctor will determine the type of genetic testing you need. Various bodily fluids or tissues can be used for the analysis. For instance, during the Deoxyribonucleic Acid (DNA) Screening, small bits of blood, skin, bone, or other tissues is required.

Why is Genetic Testing Recommended?

  • A family member or the close relative of the couple is suffering from an inherited illness

  • If the female partner has gone through more than two consecutive miscarriages

  • If previously the female partner had given birth to a stillborn child, who showed signs of genetic disorders

  • If the woman who is carrying child is older than the age of 35

  • If the general prenatal screening shows abnormal results

How is Genetic Testing Performed During Pregnancy?

A pregnant woman may choose to undergo either Amniocentesis or Chorionic Villus Sampling. Blood tests are also available to identify a few disorders. When the specialist notices a possible problem during the initial screening, only then Amniocentesis or Chorionic Villus Sampling may be performed.

Amniocentesis is a test, which is carried out when the woman is 15-20 weeks pregnant. Here, the doctor inserts a hollow needle into the abdomen of the woman to take out a tiny amount of amniotic fluid. It is extracted from around the fetus, which is still developing. This fluid is then tested for any genetic abnormalities. Although rare, this test can lead to a miscarriage.

Chorionic Villus Sampling or CVS is carried out when the woman is 10-12 weeks pregnant. Here, the doctor extracts a tiny piece of the placenta to check for any genetic disorders in the fetus. Since it is an invasive test, there are very slight chances of a miscarriage.


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