Test reports will include one of three possible results for chromosomes 21, 18, and 13 :
“No Aneuploidy Detected”, “Aneuploidy Detected”, or “Aneuploidy Suspected (Borderline Value)”.
- “No Aneuploidy Detected” – this result is reassuring but does not ensure an unaffected pregnancy.
- “Aneuploidy Detected” – this result suggests an increased likelihood of the fetus to be affected. However, there is a small chance that the result may not reflect the chromosomes of the fetus.
- “Aneuploidy Suspected (Borderline Value)” – this result gives an indication that although there is a higher risk for fetal aneuploidy than a “No Aneuploidy Detected” result, the chances of a false positive are slightly greater than the results in the “Aneuploidy Detected” zone. Both “ANEUPLOIDY SUSPECTED (Borderline Value)” and “ANEUPLOIDY DETECTED” results should be confirmed by an invasive procedure. Illumina recommends that no irreversible clinical decisions should be made based on these screening results alone. If definitive diagnosis is desired, chorionic villus sampling or amniocentesis would be necessary.
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