Genetic tests are done by analyzing sample tissues or blood. They are done to find out if a person is susceptible to any sort of disorder that can be inherited. If you’re planning for a pregnancy then genetic testing might be the best option for you to see if your child could get any genetic diseases.
It is possible to pinpoint a single missing gene or a defective gene from a person’s blood sample. There are many genetic tests and which test needs to be done is determined by the illness that the doctor suspects the person may develop in the future.
Genetic testing while you are pregnant
You will have two options for genetic testing during pregnancy - amniocentesis and chorionic villus sampling (CVS).
Amniocentesis is performed between 15 and 20 weeks of a woman’s pregnancy. A small amount of amniotic fluid is removed from the pregnant woman’s abdomen using a hollow needle. This fluid is then tested for any genetic disorders. It can also be used to determine the development of baby’s lungs especially in cases where there are chances of a preterm labour. Some believe that amniocentesis has a slight chance of inducing a miscarriage.
Chorionic Villus Sampling is done between 10 and 12 weeks of pregnancy. In this, a small piece of placenta is removed to test for any illnesses. It can be used to identify disorders like Down syndrome, Trisomy 13, Trisomy 18 and other chromosome abnormalities.
Both of these are invasive tests so they are done only after a preliminary blood test is done. If any viruses are identified then the doctor goes ahead with these genetic tests.
Your doctor may recommend a genetic test if:
If you’re planning to start a family and one of your close relative has an illness that is genetic.
Your first child has a birth defect.
If you’ve had multiple miscarriages.
If you’re 35 years or older.
If a child has an illness that might be genetic and hard to diagnose.
Screening and Diagnostic tests
These are the two options available to gather more information about your chances of having a pregnancy that might involve minor birth defects.
Screening tests are generally done with ultrasounds, blood tests or both. Diagnostic tests are “invasive” tests because they inserting a needle into your body.
The benefits of screening tests are that they don’t assert any risk on the pregnancy but the drawback is that you will not get a certain “yes or no” from it. But it will be followed by a screening test to confirm the illness or a defect.
Make sure to Talk to your doctor about all the options available for you before you take any action.