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April 15, 2015

Study Published in the Journal Science Identifies the First Genetic Variant Directly Correlated to Mitotic-Origin Aneuploidy in Human Embryos

- Study analyzed over 20,000 unique embryos using Spectrum™ Preimplantation Genetic Screening from Natera -

SAN CARLOS, Calif., April 15, 2015 /PRNewswire/ — Natera, Inc., a leader in non-invasive genetic testing, announced the publication of a study in the current issue of Science, which describes the identification of a genetic variant that influences the likelihood of aneuploidy in preimplantation embryos. Variants of this gene may help explain why some women take longer than others to achieve a successful pregnancy.

Aneuploidy, a genetic condition characterized by an abnormal number of chromosomes, is a common cause of miscarriage and congenital birth defects. It is well known that the rate of aneuploidy increases with maternal age, especially after age 35. However, even among mothers of the same age, the likelihood of having an aneuploid embryo varies. Scientists have long sought to understand what other factors may play a role in the development of aneuploidy.

The Petrov laboratory at Stanford University, in collaboration with scientists from Natera, studied more than 20,000 early stage embryos that were analyzed with the Spectrum™ preimplantation genetic screening test (PGS), to determine whether maternal genetic variations may affect aneuploidy rates. Spectrum™ PGS incorporates parental genetic information, enabling accurate determination of chromosome copy numbers for each embryo, and also enabling the study’s authors to differentiate between aneuploidy of meiotic origin vs. mitotic origin.

Variants of one particular genetic region were found to be associated with increased mitotic errors shortly after fertilization. This region included the Polo-like kinase 4 (PLK4) gene which is responsible for mitotic spindle formation, providing a likely explanation for the findings. According to the study, the increased rate of aneuploidy for individuals carrying two copies of the risk variant is roughly similar to an additional 1.8 years of maternal age for mothers 35 years old or older.

“This discovery will help reproductive specialists and couples attempting to conceive children using in vitro fertilization (IVF) to better understand natural variation in fertility and the time needed to have a successful pregnancy,” explained Dr. Petrov.

Meiosis is the process of cell division that creates sperm and egg, before formation of the embryo. Mitosis is the process of normal cell division that occurs after an embryo is fertilized. Errors in this process during early embryo development may prevent normal growth. Natera is the only laboratory whose PGS test can differentiate between meiotic and mitotic origins of aneuploidy.

“This study demonstrates the unique capabilities of our PGS/PGD technology,” said Matthew Rabinowitz, Ph.D., CEO of Natera. “We can essentially reconstruct key pieces of the genome from an embryonic cell, allowing determination of the aneuploidy status of the embryo, as well as the tracking of single-gene mutations in one single test.”

The study, entitled “Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos” can be found online at A feature article about the study appears in the April 9 issue of The Scientist.

About Spectrum™ Preimplantation Genetic Screening/Diagnostics (PGS/PGD)

Spectrum™ PGS and PGD are genetic tests used during in vitro fertilization (IVF) to test an embryo for extra or missing chromosomes and/or inherited genetic diseases. The goal of PGS/PGD testing is to find out which embryos are most likely to result in a healthy pregnancy. Spectrum™ relies on a proprietary bioinformatics algorithm called Parental Support™, which is unique in incorporating parental genomic information together with data from the Human Genome Project. Since launching the Spectrum™ test in 2009, Natera has analyzed over 20,000 embryos, in partnership with IVF medical centers across six continents.

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 OB/GYN 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).

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SOURCE Natera, Inc.

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