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Why NIPT is not a diagnostic test
Originally published June 2019
NIPT has high sensitivity for T21, T18, T13
Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal plasma has unparalleled sensitivity and specificity when screening for trisomies 21, 18 and 13. NIPT is a highly accurate screening test. However, the test cannot be considered diagnostic.
While NIPT is often described as >99% accurate, placental and maternal mosaicism can contribute to false-positive screening results. Technical considerations can also lead to incorrect calls.
NIPT results should never be considered in isolation. Diagnostic testing is recommended to confirm high risk results.
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