Many prenatal genetic tests are both invasive and risky, meaning that both parents and doctors often avoid them unless necessary. Recently, noninvasive prenatal testing (NIPT), also known as noninvasive prenatal screen (NIPS), is available in the first trimester. This type of genetic screening works by analyzing the small amount of cell-free DNA (cfDNA) from the baby that can be found in the mother’s blood. This testing is beneficial thanks to its accuracy in detecting common chromosomal abnormalities and, of course, its noninvasive nature.

What is Noninvasive Prenatal Testing?

Noninvasive prenatal testing or screening (NIPT or NIPS) screens a baby’s DNA through the mother’s blood during the first trimester. NIPT estimates if the pregnancy is at risk of for the conditions tested.  The result shows if the fetus is at low-risk or at increased risk for the genetic abnormality tested. The accuracy of the testing fluctuates depending on the disorder. Noninvasive prenatal testing is performed during the first trimester of a pregnancy.

What is the Noninvasive Prenatal Testing Procedure Like?

The NIPT procedure is simple and safe, and the test is performed during the first trimester of pregnancy. At either your obstetrician’s office or a lab, a sample of your blood will be collected. Then, the cfDNA from the placenta found within the mother’s blood will be analyzed and screened for genetic abnormalities. When the results are returned, your doctor may recommend additional testing if necessary.

Invasive diagnostic tests such as a chorionic villus sampling (CVS) or amniocentesis have more risks than NIPT. Therefore, for some patients, NIPT is performed prior to more invasive diagnostic testing.

What Can an NIPT Detect?

NIPT screens for common chromosomal disorders including Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). In addition, an NIPT can show your baby’s blood type and gender, so if you want to be surprised be sure to let your doctor know before receiving your results.

NIPT may also be used to screen for additional chromosomal disorders in which there may be missing or repeated segments of a chromosome. Since NIPT tests both fetal and maternal cfDNA it may detect a genetic condition in the mother.

Are NIPTs Accurate?

NIPTs are accurate, with results from the test being between 97-99% accurate for Down syndrome, Edwards syndrome, and Patau syndrome on average. If an NIPT detects these genetic abnormalities, your obstetrician will likely recommend that further testing is done to confirm the results. This could include ultrasound, CVS, or amniocentesis tests.

Schedule a Consultation

If you are in the first trimester of your pregnancy and curious about noninvasive prenatal testing, schedule a consultation with an OB/GYN to see if the tests are right for you. Call Carnegie Imaging or contact us online to schedule your first appointment.