Screening for 22q11.2 Deletion to Become Standard
Natera, a leading innovator in prenatal genetic testing, today announced the expansion of the Panorama™ non-invasive prenatal test (NIPT) to screen for five clinically relevant microdeletion syndromes. The expanded test will become available on March 1, 2014.
Microdeletions are tiny missing pieces of DNA at the sub-chromosomal level, which can have serious health implications depending on the location of the deletion. Beginning on March 1, screening for 22q11.2 deletion syndrome (also known as DiGeorge syndrome) will become standard on Panorama’s prenatal panel, which already includes screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, triploidy, and sex chromosome aneuploidies. Expecting parents will have the additional option to screen for 1p36 deletion, Angelman, Cri-du-chat, and Prader-Willi syndromes.
According to a study of 469 cases including 110 positive controls, Panorama demonstrated analytical sensitivity greater than 93% and specificity greater than 99% for each microdeletion condition tested. Achieving this level of accuracy with a non-invasive test for microdeletions has never before been accomplished.
Peter Benn, D.Sc, professor of genetics and developmental biology at the University of Connecticut, consulted with Natera to help shape the new microdeletions screen, with particular focus on translating the analytical validation data into risk scores.
“Natera took a scientifically rigorous and clinically cautious approach to validation,” commented Prof. Benn. “The validation study demonstrates that Panorama is an effective screening system for five clinically significant microdeletion syndromes. Because false positives and false negatives will occur in any screening system, Panorama’s test results will communicate actionable risk scores that will help clinicians counsel their patients appropriately.”
The five microdeletions tested by Panorama occur with a combined incidence of approximately 1 in every 1,000 births, which for younger mothers is more prevalent than Down syndrome. Individually, 22q11.2 deletion syndrome has the highest incidence on Panorama’s microdeletion panel at 1 in every 2,000 births. This makes 22q11.2 deletion at least as common as cystic fibrosis, for which screening is already offered routinely to all pregnant women under guidelines from the American Congress of Obstetricians and Gynecologists (ACOG).
Donna McDonald-McGinn, MS, CGC, Director of the 22q and You Center at the Children’s Hospital of Philadelphia (CHOP), added, “22q11.2 deletion syndrome is a complex condition affecting approximately 1 out of every 2,000 newborns, most often without any previous family history of the deletion. Children with 22q11.2 deletion syndrome frequently have heart defects, palatal differences, immunodeficiency, endocrine and feeding problems, renal malformations, developmental delays and intellectual disabilities. At CHOP, our comprehensive multidisciplinary team supports families struggling to cope with the effects of this condition, including those where the diagnosis was quite elusive. No question, early detection will lead to timely interventions and targeted care.”
Natera has also developed significant resources to help doctors implement the new technology. A highly trained team of over a dozen in-house genetic counselors will be available to discuss test results, both with clinicians and directly with patients.
“This marks a major milestone for Natera,” said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. “However, our greatest challenge still lies ahead. In pursuit of our mission to help families conceive and deliver, we aim to create access to this new technology for expecting parents around the world.”
Natera Inc. is a genetic testing company that specializes in analyzing microscopic quantities of DNA for reproductive health indications. The mission of the company is to help families conceive and deliver. In pursuit of that mission, Natera operates a CLIA-certified laboratory in San Carlos, Calif., providing a host of preconception and prenatal genetic testing services primarily to OBGYN physicians and in-vitro fertilization centers. In early 2013, the company launched Panorama™, a safe, simple test for pregnant women that identifies the most common chromosomal anomalies in a fetus as early as nine weeks of gestation. These tests were developed by Natera, a laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA), and they have not been cleared or approved by the U.S. Food and Drug Administration (FDA).
For more information, visit www.natera.com.
*Screening for microdeletions with Panorama is not yet available in New York state or outside the U.S.
Lena Evans, 212-845-4262
Solomon Moshkevich, 650-249-9090