Benzinga | Feb 1, 2021 09:05AM EST

Natera Highlights Presentation Of Results From SMART Study At SMFM 41st Annual Pregnancy Meeting

SAN CARLOS, Calif., Feb. 1, 2021 /PRNewswire/ -- Natera, Inc. (NASDAQ:NTRA), a pioneer and global leader in cfDNA testing, presented key results from its SMART study at the SMFM 41st Annual Pregnancy Meeting.1 The SMART study sets a new standard as the largest prospective NIPT study to date (N = 20,927 enrolled from 21 medical centers), and the only large-scale study to collect genetic outcomes in most of the subjects. The study includes the validation of a new artificial intelligence-based algorithm for Panorama(r) called Panorama AI, which utilizes information from over 2 million cfDNA tests performed by Natera.

Key results related to the 22q11.2 microdeletion:

* Study showed a higher-than-expected prevalence of 1/1,524 in the general population that compares well with conditions broadly recommended for routine testing such as trisomy 21 in average risk pregnancies (~1/1,000), cystic fibrosis (~1/2,500), and spinal muscular atrophy (~1/10,000).2-5

* Study reaffirmed Panorama's highest commercially available sensitivity in detecting the most common 2.54Mb microdeletions.

* Study expanded Panorama's capabilities by enabling accurate identification of small microdeletions, which no massively parallel shotgun sequencing (MPSS)-based NIPT has validated.

* Small deletions accounted for at least 41% of the disease load, providing a significant competitive advantage for Panorama compared to MPSS-based NIPTs that exclude small microdeletion sizes in their performance claims.

* Combined performance, even when including small microdeletions, was better than any other published NIPT result to date (sensitivity 83%, PPV 53%).

"This is the first prospective NIPT study in which genetic outcomes were confirmed in the vast majority of the patients enrolled, and provides a wealth of data about the real-world performance of NIPT across a diverse group of global centers and patients," said Mary Norton, MD, Professor, UCSF, and one of the Principal Investigators of SMART. "The findings related to high prevalence of 22q11.2 deletion syndrome, the limited ability of ultrasound to detect all cases prenatally, and the performance of NIPT in detection of these cases with high accuracy provide exciting data to inform discussions around testing for a broader set of conditions beyond common aneuploidies."

"The diagnostic odyssey related to 22q11.2 deletion syndrome is well documented, with median time to diagnosis of almost 5 years.6 And in the meantime, a window of opportunity might be lost to intervene and impact outcomes. Delivery of a child with 22q11.2 deletion syndrome should be at a tertiary facility well-equipped to deal with short-term complications that are associated with the disorder.7 Depending on the issue at hand (e.g., cardiac, endocrine), appropriate interventions are warranted. For example, timely administration of neonatal calcium has been shown to correlate with preventing the intellectual decline commonly seen in affected children,"8,9 said Pe'er Dar, MD, Albert Einstein College of Medicine, Bronx NY, and one of the Principal Investigators of SMART. "With the ability to detect more accurately in combination with a low false positive rate, I believe that the findings of the SMART study provide professional societies with sufficient evidence to consider including screening for 22q11.2 deletions in routine prenatal genetic screening."

In 2020, Natera performed over 400,000 tests for the 22q11.2 microdeletion. Natera has established a CPT code and favorable pricing for microdeletion testing. Based on high prevalence and excellent performance in the study, Natera looks forward to engaging professional societies for routine testing of pregnancies for the 22q11.2 microdeletion, and will then pursue broader insurance coverage.