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Can a NIPT Test Miss Down Syndrome? Understanding Accuracy and Limitations

Learn about the accuracy of NIPT tests for detecting Down syndrome and why false negatives can occur. Confirm results with diagnostic testing.

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Video transcript

Non-Invasive Prenatal Testing (NIPT) is highly accurate but not foolproof. While its sensitivity for detecting Down syndrome (Trisomy 21) is around 99%, there's still a small chance it can miss the condition. False negatives may occur due to below-threshold levels of fetal DNA in the mother's blood or mosaicism (when not all cells have the extra chromosome). Always confirm NIPT results with follow-up diagnostic testing.

Questions and answers

  1. How accurate is NIPT for detecting Down syndrome?

    NIPT has a sensitivity of around 99% for detecting Down syndrome, making it highly accurate but not 100% foolproof.

  2. What causes a NIPT test to miss Down syndrome?

    False negatives can occur due to low levels of fetal DNA in maternal blood or mosaicism, where not all fetal cells carry the extra chromosome.

  3. Should NIPT results be confirmed with other tests?

    Yes, any positive or inconclusive NIPT results should be followed up with diagnostic tests like chorionic villus sampling (CVS) or amniocentesis for confirmation.

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