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Press Release

Invitae Presents Validation of a Novel NGS-based Preimplantation Genetic Screening Technology to Identify the Most Frequent Chromosomal Causes of Miscarriage

Posted on: 30 Oct 17

SAN ANTONIO, Oct. 30, 2017 /PRNewswire/ -- Invitae (NYSE: NVTA), one of the fastest growing genetic information companies, is presenting validation data for a novel, NGS-based preimplantation genetic screening (PGS) technology that accurately identifies certain chromosomal abnormalities potentially missed on other PGS platforms. In addition, company researchers are sharing data suggesting that if initial PGS testing yields no results, a second biopsy may provide actionable information. These studies are among the seven being presented by researchers from Good Start Genetics, now part of Invitae, at the American Society for Reproductive Medicine (ASRM) 2017 Scientific Congress & Expo in San Antonio.

Currently, most NGS-based PGS technologies are limited in that they cannot detect all forms of triploidy, which is the presence of three, instead of two, copies of each of the 23 chromosomes in an embryo. Good Start Genetics' novel NGS-based approach utilizes single nucleotide polymorphism (SNP) analysis to detect all forms of triploidy. In addition, the technology can identify haploidy and many cases of uniparental isodisomy, two additional types of chromosome abnormalities that may be missed on other PGS platforms.

"This screening approach is the first of its kind, overcoming previous challenges in identifying triploidy and offering patients and clinicians the ability to screen successfully for more of the  chromosome abnormalities that so often lead to miscarriage," said Robert Nussbaum, chief medical officer of Invitae. "Ensuring patients have as much information as possible about their embryos prior to transfer can help patients and their clinicians maximize the chance of each IVF transfer to result in a healthy pregnancy."

The new technique will be added to the company's EmbryVu™ testing service, making it the first NGS-based PGS platform that can identify key chromosomal abnormalities including haploidy, triploidy and some forms of tetraploidy and UPiD.

A video overview of the study is available at

Retesting no-call biopsies may help identify and preserve healthy embryos

Additional data presented at the meeting showed that embryos for which initial PGS testing yields no information may simply need a second round of testing and the majority will be found to be healthy embryos suitable for transfer. Greater than 97% of biopsies submitted for reanalysis yielded actionable results on the second biopsy, and more than half of those embryos showed no abnormalities.

"PGS can help identify healthy embryos during IVF. This data shows that if initial testing comes back with a no-call result, a second test is very likely to provide information, with most of those embryos showing no chromosomal abnormalities," said Dr. Nussbaum. "There are a number of factors that could contribute to an initial PGS biopsy returning no actionable results, from biopsy technique to the number of cells removed to storage, or another technical assay step. This study shows those no-result findings should not be considered a final answer, and taking the time to re-biopsy may help prevent the stress of choosing to transfer an embryo without information or classifying as abnormal an embryo that could lead to a healthy pregnancy."

A video overview of the study is available

Full research presentation schedule

Wednesday, November 1, 2017 at 7:00 AM CT:

Poster #422: Validation of a novel copy number variant detection algorithm for CFTR from targeted next generation sequencing data | Presenting author Katya Kosheleva, PhD, Good Start Genetics

Poster #423: Identification of polyploid embryos using a targeted NGS-based preimplantation genetic screening assay | Presenting author Nicole Faulkner, PhD, FACMG, Good Start Genetics

Poster #426: Targeted next generation sequencing-based PGS can enable detection of uniparental isodisomy, familial relationships, and polyploidy | Presenting author Mark Umbarger, PhD, Good Start Genetics

Poster #461: Aneuploidy rates in day 5 vs day 6 biopsies | Presenting author Nicole Faulkner, PhD, FACMG, Good Start Genetics

Poster #468: Aneuploidy rates in embryos generated from fresh versus frozen donor oocytes | Presenting author Charlene Alouf, PhD, Good Start Genetics

Poster #478: Re-biopsied PGS embryos yield actionable results | Presenting author Dana Neitzel, MS, CGC, Good Start Genetics

Poster #479: FMR1 AGG testing in infertility setting: does the information change reproductive decision-making? | Presenting author Dana Neitzel, MS, CGC, Good Start Genetics

Additional information on the ASRM 2017 Scientific Congress & Expo is available at

Invitae's reproductive genetics products, which include Good Start Genetics' GeneVu, EmbryVu and VeriYou, provide preimplantation genetic screening and carrier screening to offer comprehensive and flexible testing options that help a wider range of couples find their paths to pregnancy at significantly lower costs. Good Start Genetics became part of Invitae in August 2017.

About Invitae
Invitae Corporation (NYSE: NVTA) is one of the fastest growing genetic information companies in the United States. Invitae Corporation's mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit our website at

Safe Harbor Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to Good Start Genetics' PGS technology and that it can accurately identify certain chromosomal abnormalities potentially missed on other PGS platforms; and research data which suggests that retesting no-call biopsies may help identify and preserve healthy embryos. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to:  risks associated with the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; laws and regulations applicable to the company's business; the company's limited experience with respect to acquisitions and its ability to integrate newly acquired companies successfully into its existing business; the company's history of losses; the company's ability to compete; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended June 30, 2017. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.

Laura D'Angelo


Editor's Details

Mike Wood

Last updated on: 30/10/2017

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