That’s why, for every High Probability result we would refer the patient for a diagnostic test such as CVS or Amniocentesis to verify the results. However, the limitation of the test is that in 5% of the cases, it will result in a ‘false negative’ meaning that the test will return a ‘High Probability’ result for a fetus that doesn’t have Down’s Syndrome. As a practical example, the Panorama AI test has a 95% PPV for Down’s Syndrome, meaning that 95% of the fetuses identified as ‘High Probability’ will statistically have the condition. Positive Predictive Value or PPV is the proportion of the ‘true positives’ as proportion of all positive results. It’s important for us that you understand the terminology we use for screening tests:ĭetection rate is defined as the fraction of all patients who have the disease and are called positive by the screening test. *** Panorama Al with Microdeletion Panel and Vistara NIPT for single-gene mutations across 30 genes add-on options. The positive or inconclusive results of the tests may be NOT covered by NHS, and you may require private genetic counselling and possible private invasive test (CVS or amniocentesis) for your own expense. It can have higher false positive rate and also inconclusive results. ** Triploidy, Turner syndrome (45X) and sex chromosome aneuploidy NIPT screening has limited clinical validation data. The data from this study showed 83-99.9% sensitivity, 53% positive predictive value (PPV) and just 0.05% false positive rate. * Panorama AI for Di George syndrome was validated in SMART, the largest prospective NIPT study (2022), combining artificial intelligence (AI) with Natera’s proprietary SNP-based methodology to improve both accuracy and the positive predictive value (PPV) for 22q deletions. The data taken from the clinical data published by Roche and Natera.

Harmony test pregnancy