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IdentifySGD Development and Validation recognized in Fertility and Sterility

BASKING RIDGE, N.J. (December 1, 2015) — The Foundation for Embryonic Competence (FEC) is providing world-class, rigorously validated embryonic tests for IVF patients. The research and validation behind the FEC’s single gene disorder (SGD) preimplantatation genetic diagnosis (PGD) test, IdentifySGD, was published by Fertility and Sterility, the American Society of Reproductive Medicine’s prestigious scientific journal, in October.

The article, titled: Development and validation of concurrent preimplantatation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification, describes the rigorous methods FEC employed to validate its test that can help couples at risk for having a child with a single gene disorder.

The validation focused on testing the ability of IdentifySGD to diagnose known single gene disorders by establishing concordance between IdentifySGD and industry-standard results. The results were industry-leading. IdentifySGD demonstrated 99% accuracy, and was able to yield a diagnosis for 99.7% of samples tested.1 In comparison, other PGD methods are able to provide a result only 84.4% of the time.2

IdentifySGD quality proved superior, as well. Allele dropout (ADO), a laboratory concern that can lead an abnormal embryo to appear normal, was measured at only 0.02% when two or more cells were included in a biopsy.1 Other PGD methodologies reported an ADO rate of 11.9%.2

Paper coauthor and FEC researcher, Nathan Treff, PhD, explains, “This study is another example of setting the bar well above our competitors. The core of our research and development efforts are represented by these results and the confidence we have in the accuracy and reliability of new methods we bring to patients.”

Unlike other methods of PGD, IdentifySGD uses a combination of single nucleotide polymorphism (SNP) linkage markers and direct mutation analysis, when possible, to make a diagnosis of a disorder in an embryo. With the use of SNP linkage markers, the test is able to greatly reduce the risk of genetic recombination yielding an inaccurate result by getting closer to the mutation of interest than historically used short tandem repeat (STR) markers.

“The beauty of our methodology is that it allows us to test for nearly all single gene disorders. We can even provide PGD for patients with de novo mutations, or for some without participating family members, a population of families for which PGD was not previously possible,” said paper coauthor and FEC Clinical Laboratory Director Rebekah Zimmerman, PhD, FACMG. “Further, all of our single gene embryos receive comprehensive chromosomal aneuploidy screening in tandem to single gene disorder diagnosis, using a single biopsy. By screening embryos for both the single gene disorder and aneuploidy, we provide patients and doctors with the information they need to give patients their best chance of achieving a healthy pregnancy.”

Adds Dr. Treff, “The FEC continues to demonstrate the fruits of investing in internal research and development by establishing methods less dependent on individual corporations. Not only has this given us the ability to develop tests which perform better, but it also allows us to invest more into the development of new technologies to continue to improve outcomes for patients with infertility.”

About the Foundation

The Foundation for Embryonic Competence (FEC) is a nonprofit organization dedicated to advancing knowledge and enhancing outcomes in embryonic research, diagnosis, and education. As the world’s preeminent center for the advancement of in vitro fertilization (IVF) diagnostics, research, and education, the FEC offers exclusive embryonic screenings—IdentifySGD and SelectCCS—to aid in the selection of viable embryos prior to implantation in IVF. Proceeds from the FEC’s screening services are used to support research and medical education in the field of embryonic competence. For more information, please visit www.FEClabs.org.

REFERENCES: 1. Zimmerman RS, Jalas C, Tao X, et al. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosome aneuploidy screening without whole genome amplification. Fertil Steril. In press. 2. Gutiérrez-Mateo C, Sánchez-Garcia JF, Fischer J, et al. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril. 2009;92(5):1544-1556.

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