NONINVASIVE PRENATAL SCREENING
Understanding noninvasive prenatal screening (NIPS/NIPT)
During pregnancy, there are so many things to consider and decisions to make. It can feel overwhelming. Some of those decisions involve prenatal testing and screening options—which can provide information about your baby's health and your health during pregnancy—such as noninvasive prenatal screening (NIPS/NIPT).
Our goal is to help you understand NIPS (NIPT) and what the results mean, so you can talk with your healthcare provider to decide if NIPS (NIPT) is right for you.
What is NIPS (NIPT)?
- NIPS (NIPT) is a screening test—performed on a blood sample taken from your arm, often along with other routine health testing—that can indicate whether your child is at increased risk for certain genetic conditions
- Leading medical societies recommend that all patients are offered prenatal genetic screening such as NIPS (NIPT) and, if clinically indicated, diagnostic testing options1,2
- The results of the screening test, along with other information your doctor evaluates, can suggest if additional testing might be something to consider
Understanding Noninvasive Prenatal Screening (NIPS/NIPT)
Navigating your results
- What does this screening measure? This screening measures genetic material (DNA) from your pregnancy that’s naturally present in every pregnant person’s blood
- What do results mean? Every pregnancy is unique. Therefore, the clues we see in NIPS (NIPT) results will vary between individuals. While this technology is advanced and most often a true prediction of the presence or absence of a genetic condition, there are occasions when it is possible to receive a false negative or false positive result3,4
- What are false negative and false positive results? A false negative result indicates the absence of the genetic condition being tested when, in fact, the condition actually is present. A false positive result indicates the presence of the genetic condition being tested when, in fact, the condition actually is not present
If your results suggests increased risk for a genetic condition, your doctor may recommend follow-up diagnostic testing, which would provide more information about whether your baby has one of these conditions.
Before making any decisions about your next steps:
References:
- American College of Obstetricians and Gynecologists (ACOG). Current ACOG Guidance NIPT Summary of Recommendations. https://www.acog.org/advocacy/policy-priorities/non-invasive-prenatal-testing/current-acog-guidance. Accessed December 27, 2022.
- Dunga, Jeffrey S., et al. “Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).” Genetics- in Medicine (2022): 100336.
- Palomaki GE, Kloza EM, Lambert-Messerlian GM. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genetic Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM/0b013e3182368a0e.
- Palomaki GE, Deciu C, Kloza EM. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetic Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73.