The non-invasive prenatal test or NIPT genetic testing is a highly sensitive test which screens for abnormalities such as Down syndrome and other abnormalities in a baby during the first trimester of pregnancy. As the baby’s DNA passes into the mother’s bloodstream, doctors conduct the genetic testing during the first trimester to analyze the genetic information in the DNA for a number of abnormalities. This test is known for particularly being sensitive to Down syndrome.
The NIPT genetic testing is a simple blood test that is performed from 10 weeks into the pregnancy. The test has been offered in the various molecular diagnostic laboratories in India for years.
What does it test for?
Genetic test during the first trimester is a safe and highly effective way for screening for conditions that include:
- Down syndrome (also called trisomy 21)
- Edwards syndrome (trisomy 18)
- Patau syndrome (trisomy 13)
- Turner syndrome
This test helps detect many chromosomal abnormalities, but not as many as a diagnostic test such as amniocentesis. Genetic disorders such as cystic fibrosis, sickle cell anaemia cannot be determined from this test.
Why have a NIPT?
Since NIPT genetic testing is a highly sensitive test that can pick up more than 99% of cases of Down syndrome, it is a useful test to determine your baby’s health. But the NIPT test is still a screening test rather than a diagnostic test. This test can only tell you whether there is an increased likelihood of having a baby with an abnormality rather than give you a confirmation of the abnormality.
If the test comes positive, the only way of knowing whether your baby has Down syndrome is to have a diagnostic test such as amniocentesis or chorionic villus sampling (CVS).
Most women in India prefer to take the genetic test in the first trimester to screen for Down syndrome. In combination with the blood test, mother’s age, and an ultrasound scan, the NIPT genetic testingdetermines whether the baby is at an increased risk of Down syndrome. Expectant mothers contain an advantage from this screening because the ultrasound can pick up other problems with the pregnancy by estimating the age of the fetus.
You might consider having a NIPT genetic test if:
- you are expecting a baby
- DNA testing during pregnancy in the first trimester shows that you are at an increased risk of having a baby with Down syndrome.
- You couldn’t avail of the combined first-trimester screening test because it was not available in your area.
- you want to have a confirmation about the risk before you opt for a diagnostic test such as amniocentesis or CVS, which might harm your baby
- If you’re older or have a previous baby with Down syndrome or another chromosomal condition.
What to expect from your NIPT results
NIPT genetic testing can take up to two weeks to get the result. If the result is ‘negative,’ ‘normal,’ or ‘low risk,’ there is a probability that your baby does not have chromosomal disorders. But if the result is positive, that means that there is a high likelihood of your baby being affected. You can talk with your doctor or genetic counsellor to make appropriate decisions.
How much does the NIPT cost?
Most molecular diagnostic companies offer genetic tests during the first trimester. All expectant mothers should get themselves screened. The cost of the NIPT test is at a lower spectrum, and you should opt for a highly credible genetic laboratory for an accurate test report.
