Non-Invasive Prenatal Testing is highly accurate, but it is important to understand what the result—whether “low risk” or “high risk”—truly means. NIPT is a screening test, not a diagnostic test.
Detection Rate vs. Positive Predictive Value (PPV)
When discussing accuracy, two key terms are used:
Detection Rate (Sensitivity): This refers to the test’s ability to correctly identify a condition when it is present. For Down Syndrome (Trisomy 21), NIPT has a detection rate exceeding 99%.
Positive Predictive Value (PPV): This is the chance that a “high-risk” (positive) NIPT result is genuinely correct.
The PPV is directly linked to how common a condition is in the general population.
The interpretation of a “high-risk” NIPT result depends heavily on how common the condition is in the general population. For common conditions, such as Down Syndrome (Trisomy 21), the risk is higher (higher incidence), meaning the Positive Predictive Value (PPV) is high—a “high-risk” result is very likely correct.
However, for rare conditions, such as Patau’s syndrome (Trisomy 13) or the various Microdeletions, the population risk is much lower. In these cases, the PPV is consequently lower, meaning a “high-risk” result has a greater chance of being a False Positive (a positive test result where the fetus is actually unaffected). This key difference underscores why diagnostic testing is always essential following any high-risk NIPT screening result.
For very rare microdeletion syndromes, a high-risk NIPT result may only mean a 50-70% actual chance of the baby having the condition, meaning the remaining 30-50% are false positives. This is why further testing is always necessary.
The Most Common Reason for Inaccuracy: Confined Placental Mosaicism (CPM)
The NIPT analyses DNA from the placenta, not the baby directly. Occasionally, the placenta’s DNA does not perfectly match the baby’s DNA.
Confined Placental Mosaicism (CPM): This occurs when a chromosomal abnormality exists only in the cells of the placenta, but the baby is genetically typical.
Impact on NIPT: If the placenta has an extra chromosome (which the baby does not), the NIPT may incorrectly report a “high-risk” result, leading to a false positive.
The Confirmatory Step
A “high-risk” NIPT result is never a final diagnosis. The only way to confirm if the baby is truly affected is through an invasive, diagnostic procedure: