The test screens fetal cell-free DNA from a sample of maternal blood. According to the company, this test is the first of its kind, combining non-invasive testing and the ability to be customized to detect a specific single-gene disease, for which a given family is at risk.
Common examples of diseases that may be detected with Resura include CF, sickle cell anemia, and Tay-Sachs disease. It can detect disease-causing mutations of all inheritance types, including recessive, dominant, and X-linked genetic mutations.
For parents at risk of one of these illnesses, knowing the diagnosis of their child before birth gives them the opportunity to make more informed decisions, and prepare better for their family’s future.
However, current prenatal diagnosis for these types of disorders involves invasive methods, such as amniocentesis and chorionic villus sampling, or simply waiting until after birth for a diagnosis. Because Resura uses cell-free DNA from the fetus, which can be found in the mother’s blood, it forgoes invasive procedures.
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The test requires only a blood sample from the mother, and is safe both for the mother and the child, according to Progenity. It can be performed in pregnant women with more than 10 weeks of gestation, requiring a prior verification testing on parents to determine the DNA variants they carry.
Resura employs a technology called droplet digital PCR, a highly precise method for quantifying gene copies. The performance of the test has been validated in a study, in which it accurately predicted the fetal outcomes in a group of 57 women including at-risk pregnancies. It detected 92.9% of the positive cases, and demonstrated a 99.9% sensitivity and specificity, which means that failure rates (false positives and false negatives) are rare — less than 1%.
“Since the advent of cell-free DNA testing for chromosomal abnormalities, healthcare providers and patients have been asking for a similar noninvasive testing pathway for monogenic disease,” Harry Stylli, PhD, CEO and founder of Progenity, said in a press release.
“With the development of the Resura test, we accepted and overcame the challenges inherent in differentiating the fetal genotype from the maternal background, and we are proud to introduce a new, noninvasive testing option to families impacted by rare disease,” Stylli added.
In addition to Resura’s launch, Progenity also announced upgrades to its Innatal Prenatal Screen, a non-invasive prenatal screening for chromosomal aneuploidies (abnormalities in the number of chromosomes), including Down syndrome, Edwards syndrome, Turner syndrome, and others. The modifications improved the test’s specificity and sensitivity.
“Progenity is driving development of the next generation of noninvasive prenatal testing, fueled by our commitment to continually advance current technologies and develop innovative products for unmet medical needs, like the Resura test,” said Matthew Cooper, PhD, chief scientific officer at Progenity. “We have proven experience helping physicians and patients make individualized care decisions.”