Natera, Inc. (NASDAQ:NTRA), a global leader in cell-free DNA (cfDNA) testing and precision medicine, today announced a major enhancement to its Panorama non-invasive prenatal test (NIPT). Powered by the company's novel SNP-informed deep sequencing technology, Panorama NIPT is now backed by clinically-validated performance data in samples with low fetal fraction, enabling a no-call rate of 0.5%.

Fetal fraction refers to the proportion of placental DNA circulating in a pregnant patient's blood sample. Low fetal fraction can make it more difficult to accurately detect chromosomal abnormalities in prenatal screening. Patients with low fetal fraction are associated with a significantly increased risk of aneuploidy.

Prior literature highlights challenges with sensitivity at low fetal fractions with some counting-based NIPT methods, with one study indicating 62% sensitivity for trisomy 21 at low fetal fraction.1,2 Despite this limitation, most counting-based NIPTs routinely provide results at low fetal fraction without providing clinical performance data specifically for these populations.

To address this unmet need, Natera developed and validated SNP-informed deep sequencing technology to improve NIPT performance at low fetal fractions while preserving the unique advantages of Panorama's SNP-based methodology.

Panorama with SNP-informed deep sequencing technology is supported by a prospective, blinded clinical validation study of 3,323 high- and low-risk pregnant patients, including 242 samples with low fetal fraction or that would not have received a result otherwise. All samples had outcomes confirmed by diagnostic genetic testing. While most counting-based NIPT studies report blended performance across fetal fractions, thereby obscuring performance at low fetal fractions, results from this study demonstrated strong clinical performance explicitly in patients at low levels of fetal fraction, including 100% sensitivity for trisomy 21, 93.3% sensitivity for trisomy 18, and 100% sensitivity for trisomy 13. In addition, the no-call rate was reduced to just 0.5%, enabling more patients to receive actionable results on the first draw and removing a historical competitive gap for Panorama.

"Low fetal fraction has remained one of the most important challenges in non-invasive prenatal screening," said Sheetal Parmar, M.S., CGC, SVP of Medical Affairs, Women's Health. "Panorama now combines the power of our proprietary SNP-based approach with a novel deep sequencing technology that maintains strong clinical performance even in low fetal fraction samples. Importantly, we can help more patients receive reliable results without added complexity for providers."