For doctors
Clinical data
The overall test performance reflects high analytical accuracy across all evaluated conditions, with consistently high sensitivity and specificity observed for common autosomal trisomies and strong performance across sex chromosome aneuploidies and genome-wide CNV screening.
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|---|---|---|---|
ABNORMALITY | SENSITIVITY | SPECIFICITY | PPV |
Trisomy 21 (Down syndrome) | >99.9% | 99.94% | 94.4% |
Trisomy 18 (Edwards syndrome) | >99.9% | 99.95% | 85.1% |
Trisomy 13 (Patau syndrome) | >99.9% | 99.96% | 65.4% |
Monosomy X (Turner / X0) | >99.9% | 99.65% | 30.0% |
Triple X (XXX) | >99.9% | 99.91% | 59.1% |
Klinefelter (XXY) | >99.9% | 99.88% | 48.0% |
Jacobs (XYY) | >99.9% | 99.94% | 40.0% |
Copy number variations (CNV) | >99.9% | 99.12% | N/A |
Fetal sex determination | 99.9% | 99.9% | N/A |
The data is based on internal validation data including 20,689 samples, and only reflects past detection, not the actual condition of the tested sample nor a promised value for any individual test.
PPV — Positive Predictive Value. The threshold for reporting test results is a fetal fraction of 3.5%. For sex chromosome aneuploidies, the following conditions are reported: XO, XXY, XXX and XYY. The reporting limit for incidental deletions and duplications is 5 million base pairs. NIPT by GenePlanet is a screening test and does not replace confirmatory diagnostic testing where clinically recommended.
Positioning statements and guidelines regarding NIPT
October 2012
International Society for Prenatal Diagnosis ISPD
Prenat Diagn 2012;32:1-2
December 2012