What Is NIPT?
Non-invasive prenatal testing (NIPT) is a specific type of testing performed early in pregnancy that is used to determine the likelihood of a pregnancy being affected with certain genetic conditions. NIPT does not diagnose a condition but can help identify at-risk pregnancies and help doctors decide if additional testing may be helpful.
How Does NIPT Work?
NIPT is performed using a blood sample from a pregnant person, usually in the first or early second trimester.
During pregnancy, tiny pieces of DNA from the pregnancy can be found in maternal blood. This is known as cell-free DNA (cfDNA) and it typically reflects the genetics of the growing baby.
By looking at cfDNA, NIPT estimates whether there is a higher or lower likelihood that a pregnancy has certain chromosomal or inherited genetic conditions.
NIPT is a Screening Test
NIPT is a screening test, not a diagnostic test. Screening tests estimate the likelihood that a pregnancy may have certain genetic conditions, while diagnostic tests are designed to determine whether that condition is actually present. NIPT results should be discussed with a doctor to determine whether diagnostic testing is needed.
Understanding NIPT Results
With NIPT, results are usually reported as “low-risk” or “high-risk”. In some rare cases, the result may be inconclusive meaning a risk couldn’t be determined.
Low-Risk Result
A low-risk result means there is a lower likelihood that a pregnancy could be affected with the conditions being tested for. Most low-risk results are reassuring, but it does not completely rule out the possibility of an affected baby.
High-Risk Result
A high-risk result means there is an increased likelihood that a pregnancy may be affected with the conditions being screened. A high-risk result does not mean the baby has the condition, but that there is a higher likelihood the baby may be affected. This result should be discussed with a doctor to determine if diagnostic testing is right for the pregnancy.
Inconclusive or No-Call Result
An inconclusive or no-call result means the test was unable to determine the likelihood that a pregnancy may be affected with the screened conditions. This does not necessarily mean there is something wrong, but in some situations it may be associated with a higher likelihood of certain chromosome conditions. Repeat screening, additional ultrasound evaluation, or diagnostic testing may be recommended to gather more information.
What Happens After NIPT?
After NIPT is completed, your healthcare provider will review the results with you and explain what they may mean for your pregnancy. For many people, the result suggests a low likelihood of their baby to be affected with one of the conditions screened for. If the result shows there is a high likelihood for the baby to be affected, your provider may discuss additional testing options.
Decisions about follow-up testing are personal and can depend on medical history, family history, values, and preferences. Speaking with a genetic counselor can be helpful when thinking through these options and deciding what feels right for you.
When genetic counseling may be helpful
Genetic counseling may be recommended after a high-risk screening result, an inconclusive result, or when there are questions about testing options. A genetic counselor can review the details of a result, explain the difference between screening and diagnostic testing, and discuss potential outcomes and next steps.
The goal of genetic counseling is to provide clear, accurate information and support individuals in making decisions that align with their values and preferences.
Unity offers access to a team of board-certified genetic counselors who can help individuals understand their options, understand their screening results, and discuss next steps. Appointments can be scheduled through the patient portal, on the Unity website, or by contacting Client Services directly.
