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Conditions Screened During Single Nucleotide Polymorphism Testing

Panorama screens for common genetic conditions that are caused by extra or missing chromosomes in the baby’s DNA. Because Panorama uses a unique technology to truly distinguish between the mother’s and the baby’s DNA, it is the only NIPT that tests for triploidy, and it has the highest accuracy in determining the sex of the baby (optional). Some conditions, such as Down syndrome, are caused by extra copies of a specific chromosome. Others, such as microdeletions, occur when a chromosome is missing a small piece of genetic information. Microdeletions affect pregnancies equally, regardless of maternal age.

TRISOMIES

Trisomy 21 (Down syndrome)

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Trisomy 18 (Edwards syndrome)

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Trisomy 13 (Patau syndrome)

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

SEX CHROMOSOME ABNORMALITIES
Monosomy X (Turner syndrome)

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Klinefelter syndrome

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Triple X syndrome

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

MICRODELETIONS*
22q11.2 deletion syndrome

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Prader-Willi syndrome

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

Triple X syndrome

Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.

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Steve Chapman

Steve Chapman

Chief Executive Officer

Steve Chapman is Natera’s Chief Executive Officer and serves on the company’s board of directors. Mr. Chapman joined Natera in 2010 as Vice President of Sales, later becoming Chief Commercial Officer and then Chief Operating Officer. As COO, he led the company’s commercial entry into the highly competitive non-invasive prenatal testing market, in which the company’s Panorama® test became the market leader despite being fourth to market. Mr. Chapman was appointed CEO in January 2019 and has been instrumental in extending Natera’s core technology to address new organ health and oncology markets, achieving rapid commercial growth for the Prospera™ transplant assessment test and establishing Natera’s leadership in molecular residual disease testing with Signatera.™ Since becoming CEO, Natera has achieved year-on-year revenue growth of over 40% and has consistently outperformed earnings expectations. Prior to joining Natera, Mr. Chapman worked at Genzyme Genetics, where he was credited with delivering record-breaking commercial growth and strategies that changed pregnancy genetic testing. Mr. Chapman began his career as a researcher in the department of human genetics at UCLA designing arrays identifying SNPs associated with multiple sclerosis. He graduated with honors and holds a B.S. in Microbiology, Immunology, and Molecular Genetics from UCLA.

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Robert Schueren

Robert Schueren

Chief Operating Officer

Robert Schueren is an accomplished industry veteran with extensive molecular diagnostics, genomics, and pharma experience. Mr. Schueren has enjoyed an expansive 30-year career and has been a driving force behind rapid business growth at both start-up and large biotech companies. Most recently, he was CEO of IntegenX Inc., playing a critical role in the growth and success of the company, and ultimate acquisition by Thermo Fisher Scientific, as well as successfully leading a lobbying effort to pass the Rapid DNA Act of 2017. Mr. Schueren previously held executive leadership roles including GM of Genomics at Agilent Technologies, Global Head of Clinical Biomarkers and Operations, and Deputy Global Head of Molecular Medicine Labs for Genentech, Inc. He formerly held leadership and commercial roles at Arcturus Bioscience, Accumetrics, Biosite Diagnostics, Gen-Probe, and Abbott Labs. Mr. Schueren received a BS in Pharmacy from Temple University.

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Mike Brophy, M.B.A.

Mike Brophy, M.B.A.

Chief Financial Officer

Mr. Brophy has served as Natera’s senior vice president of Finance and Investor Relations since September 2016, and served as the Company’s vice president of Corporate Development and Investor Relations since September 2015. Prior to joining Natera, he served as an executive director and as a vice president in the investment banking division of Morgan Stanley, where he focused on advising corporate clients in the life science tools and diagnostics sector. Mr. Brophy holds a master’s degree in business administration from the University of California, Los Angeles and a Bachelor of Science degree in economics from the United States Air Force Academy. His military career included leading a multi-agency, 10-person team on a $1.4 billion contract to modernize 10 remote satellite tracking stations worldwide.

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J. Dianne Keen-Kim, Ph.D., FACMGG

J. Dianne Keen-Kim, Ph.D., FACMGG

CLIA Laboratory Director

Dr. Keen-Kim joined Natera as the Senior CLIA Laboratory Director in February 2018. After earning her B.S. from Carnegie Mellon and Ph.D. from MIT, Dr. Keen-Kim completed fellowships in clinical molecular genetics and clinical cytogenetics at UCLA, and is certified by the American Board of Medical Genetics and Genomics in both molecular and cytogenetics. Dr. Keen-Kim maintains clinical director licenses in CA and NY, and has expertise in building, validation, and process-improving clinical laboratory tests, including automating manual assays. Prior to Natera, Dr. Keen-Kim served in a variety of clinical, quality, regulatory and operational laboratory leadership roles at Color Genomics, Genoptix Medical Laboratory (a Novartis company), UCLA, and Quest Diagnostics.

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Alexey Aleshin, MD, MBA

Alexey Aleshin, MD, MBA

Sr. Medical Director, Oncology

Paul Billings, MD, PhD

Paul Billings, MD, PhD

Chief Medical Officer

Helio Costa, PhD

Helio Costa, PhD

Medical Director, Oncology

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