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December 18, 2014

Published Study Shows Panorama™ NIPT Is Validated To Screen For Microdeletion Syndromes At 9 Weeks Of Pregnancy

-- Study suggests that screening in general pregnant population should be considered --

SAN CARLOS, Calif., Dec. 18, 2014 /PRNewswire/ — Natera, Inc., a leader in non-invasive genetic testing, today announced the publication of its validation study showing that the Panorama™ non-invasive prenatal test (NIPT) is highly accurate in screening for the most common and severe microdeletion syndromes. These tiny missing pieces of DNA at the sub-chromosomal level can have serious health implications depending on the location of the deletion. The study is now available online and will be published in the March 2015 issue of American Journal of Obstetrics and Gynecology.

Panorama Prenatal Screen by Natera.

According to the study of 469 cases including 111 positive controls, Panorama demonstrated analytical sensitivity greater than 97% and false positive rate less than 1% for each of five microdeletion conditions tested. Based on these results, the study’s authors concluded that “offering NIPT-based microdeletion screening to the general [pregnant] population may be appropriate.”

Microdeletions are tiny missing pieces of DNA at the sub-chromosomal level that can have serious health implications. The study noted that “clinically relevant microdeletions and duplications occur in >1% of pregnancies regardless of maternal age… these genomic alterations occur more frequently than those presently screened for, such as Down syndrome.” Unlike Down syndrome, where risk increases with maternal age, microdeletion syndromes carry equal risk across all maternal ages. The five microdeletions tested by Panorama have a combined incidence of approximately 1 out of every 1,000 births, making them together more common than Down syndrome in women under 28 years of age.

Panorama screens for the following microdeletions: 22q11.2 deletion syndrome (also known as DiGeorge syndrome), 1p36 deletion, Angelman, Cri-du-chat and Prader-Willi syndromes. Individually, 22q11.2 deletion syndrome has the highest incidence on Panorama’s microdeletion panel at approximately 1 in every 2,000 births, which makes it at least as common as cystic fibrosis. Natera has partnered with the 22q11.2 International Foundation to raise awareness about this condition and the importance of early diagnosis.

Finally, the study noted that “widespread implementation will require education of care givers and appropriate counseling of patients.” Natera has committed significant resources to medical education and patient counseling tools, emphasizing that Panorama is an advanced screening tool which identifies patients at increased risk, but it is not a diagnostic.

The study, entitled Expanding the scope of non-invasive prenatal testing: Detection of fetal microdeletion syndromes can be found online at  

About the Panorama™ Prenatal Screening Test

Panorama is a safe and highly accurate non-invasive prenatal test (NIPT) that screens for common genetic diseases. Panorama is the only NIPT that uses Single-Nucleotide Polymorphisms (SNPs) to differentiate between and analyze both the maternal and fetal DNA. Through a simple blood draw that can be performed in a doctor’s office, Panorama can screen for chromosomal abnormalities as early as 9 weeks gestation. Additionally, the test can determine the baby’s gender, and results are provided to the clinician usually within 7-10 calendar days. Panorama also includes expanded screening for common and severe microdeletion syndromes (where a small piece of a chromosome is missing).

About Natera

Natera is a genetic testing company that develops and commercializes non-invasive methods for analyzing DNA. The mission of the company is to help families diagnose and manage genetic disease. In pursuit of that mission, Natera operates a CAP-accredited laboratory certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, Calif., currently offering a host of preconception and prenatal genetic testing services primarily to OBGYN physicians and in-vitro fertilization centers. In 2013, the company launched Panorama™, a safe, simple test for pregnant women that screens for the most common chromosomal anomalies in a fetus as early as nine weeks of gestation. Tests developed by Natera have not been cleared or approved by the U.S. Food and Drug Administration (FDA). For more information, visit

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Natera, Inc.
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SOURCE Natera, Inc.

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