The NIPT (non-invasive prenatal testing) procedure is performed to analyse the risk of Down Syndrome (trisomy 21), Edwards Syndrome (trisomy 18) and Patau Syndrome (trisomy 13) in the fetus. The test can be performed as early as 10 weeks with the blood samples of the mother. Doctors examine fragments of the baby’s DNA in the mother’s blood for symptoms of the above abnormalities. The testing can also identify the Rh blood type and the gender of the baby.
Trisomy occurs when the fetus carries an extra chromosome in a particular pairing. This causes the total number of chromosomes carried by the fetus to 47 instead of the regular 46. The risk of trisomy 21, associated with intellectual and physical disabilities, increases with maternal age. Likewise, trisomy 13 and 18 can also cause severe mental handicap and physical defects. The life expectancy of babies affected with trisomy 21 is about 60 years while those with trisomy 13 and 18 barely survive a year after birth.
Research has proven NIPT as more accurate compared to first trimester ultrasound screenings for the deduction quad screening. NIPT has a success rate of 99% in identifying trisomy 21, 97% with trisomy 18 and 92% with trisomy 13.
Results will be available usually within 10-14 days. If the result shows high risks for trisomy your doctor might decide with you the need for Chorionic Villus Sampling (CVS) or Amniocentesis to confirm the diagnosis.
With the best interest of expecting mothers in mind, doctors tend to discuss all screening options available that can be availed. Discuss in detail with your medical expert about what positive results could mean for you and the baby. A detailed understanding of the pregnancy will help you prepare better for the delivery.
Invasive Prenatal Testing involves the insertion of a probe or needle either through the abdominal wall (transabdominal) or the cervix (transcervical) for an examination of the fetus. The procedures are mostly painless and performed under local anaesthesia.Learn More