6/10/2023 0 Comments Panorama genetic testingHarmony Test is a well known NIPT brand by Ariosa/Roche. Placental cfDNA is usually identical to the DNA of the baby and testing it provides an opportunity for early detection of particular chromosomal anomalies without harming the baby. NIPT is based on the assessment of small DNA fragments from a baby’s placenta (named ‘cell-free DNA’ or ‘cfDNA’) that are disseminated in the blood of every pregnant mother. Non-Invasive Prenatal Testing (NIPT) or alternatively Non-Invasive Prenatal Screening (NIPS) is a screening method for determining the chance that a baby will be born with Down’s syndrome or other chromosomal anomalies. *** 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.
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