Pregnancy can be one of the most exciting times in a woman’s life but it can also be a period full of great uncertainty. Thanks to recent technological advancements, moms-to-be can opt to have non-invasive prenatal testing, or NIPT, the most accurate type of prenatal screening test. Through NIPT, millions of women have discovered more about their baby’s health — all from a simple blood draw.
By analyzing tiny pieces of genetic information from the baby floating around in the mother’s bloodstream during pregnancy, also known as cell-free DNA, women can better understand their baby’s risk of having certain genetic conditions, plan for their baby’s care and may be able to improve their baby’s health.
“NIPT is a good option for those who are pregnant and want an early genetic screening test. Many people use NIPT to try to avoid an invasive procedure that may pose a risk to their pregnancy,” shares Melissa Maisenbacher, a board-certified genetic counselor at Natera. “There is an incredible amount of information to be gained from NIPT that can guide patients towards their next best steps. By knowing more, earlier, you can choose the right diagnostic test for your pregnancy, either during or after the pregnancy, and if necessary, you can prepare medically, financially and emotionally, and may improve your baby’s health outcomes. As a genetic counselor, I encourage all women to discuss NIPT with their health care provider to determine if it’s the right option for their family.”
Here’s what all moms-to-be should know about NIPT:
1) NIPT is a screening test, not a diagnostic test. NIPT can tell you whether the risk of your baby having specific genetic conditions is high or low, but not if your baby has the condition. If the risk is high, prenatal diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), should be done either during the pregnancy or after birth to confirm the presence of the condition. Many women choose NIPT as a first step as it may reduce the need for diagnostic testing and poses no risk to the mother or baby.
2) NIPT screens for chromosomal differences including Down syndrome (Trisomy 21), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), and other genetic conditions as early as nine weeks into pregnancy. This includes genetic conditions caused by microdeletions, which are small, missing parts of a chromosome. The most common of these is the 22q11.2 deletion syndrome (DiGeorge syndrome/VCFS) which was recently found to be more frequently identified than previously believed.
3) NIPT is a highly reliable screening option. While NIPTs are screening tests, they are more accurate and effective than ever before. The accuracy varies based on the lab selected and by the condition being screened for. For example, Natera’s Panorama® NIPT has greater than 99% accuracy when screening for Down syndrome as indicated in a recent study of over 20,000 patients.
4) All women can have NIPT. Until recently, it was recommended that only women over 35 years of age have NIPT. However, in 2020, the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) released an updated practice bulletin recommending that NIPT be offered to all women, regardless of age or risk factors. This was a major step forward for pregnant women that later helped to expand health care coverage and access to NIPT.
5) You’re not alone in this process: NIPT is a personal decision that should be made only after fully considering the benefits and limitations of the test. If you have questions or want to know more about your options, speak with your health care provider or a board-certified genetic counselor.
For more information, visit Natera.com.