NIPS based on cell-free DNA analysis from maternal blood is a screen; it is not a diagnostic test.
False-positive and false-negative results do occur. Test results must not be used as the sole basis for diagnosis.
Further confirmatory testing is necessary prior to making any irreversible pregnancy decision. A negative result does not eliminate the possibility that the pregnancy has a chromosomal or subchromosomal abnormality. This test does not screen for polyploidy (e.g. triploidy), birth defects (e.g. open neural tube defects), single-gene disorders, or other conditions such as autism. There is a small possibility that the test results may not reflect the chromosomal status of the fetus, but may instead reflect chromosomal changes in the placenta (i.e. confined placental mosaicism) or chromosomal changes in the mother, which may or may not have clinical significance.
