LIVINGSTON, NJ--(Marketwired - Jun 16, 2015) - Reprogenetics, the largest genetics laboratory specializing in Preimplantation Genetic Diagnosis (PGD), announced today new research demonstrating for the first time a clear association between the level of mitochondrial DNA (mtDNA) and the ability of a human embryo to implant in the uterus following infertility treatment. Based on the findings, the company is offering a new test called MitoGrade™ to assess the quantity of mtDNA in embryos. Mitochondrial DNA is the genetic information found within each mitochondrion, structures found inside all cells that play an essential role in energy production.

This new research may help explain why about one-third of seemingly healthy embryos containing the correct number of chromosomes fail to form a viable pregnancy. The study was published in the June 2015 issue of the journal PLOS Genetics.

The study shows that embryos produced by older women contain higher levels of mtDNA than those from their younger counterparts, implicating mitochondria in reproductive aging. Quantities of mtDNA were also higher in embryos with an abnormal number of chromosomes, a problem responsible for the majority of miscarriages and serious genetic disorders. Importantly, healthy embryos that successfully implanted in the uterus and resulted in a live birth were associated with lower levels of mtDNA than those that failed to produce a viable pregnancy. The researchers were able to establish a critical threshold for mtDNA within embryos, a level above where no viable pregnancies occurred.

"There is an urgent need for new methods to improve the efficiency and success rates of IVF. These important findings show that mitochondrial DNA represents a novel biomarker that can help to highlight the embryos most likely to produce a pregnancy, allowing them to be given top priority for transfer to the mother's uterus," said Dr. Elpida Fragouli, Laboratory Director of Reprogenetics UK.

"Reprogenetics is the first laboratory in the world able to provide IVF clinics and their patients with MitoGrade, a simple and inexpensive screening test to help couples maximize their chance of a successful fertility treatment," added Dr. Santiago Munné, Co-Founder and CEO of Reprogenetics.

The researchers established the mtDNA threshold by retrospectively examining samples from 89 chromosomally normal blastocysts (an embryo, five days post fertilization). Of these, 42 had established an ongoing pregnancy, while 47 had failed to implant. Analysis using molecular genetic techniques showed that blastocysts able to implant contained significantly lower amounts of mtDNA compared with those incapable of initiating a clinical pregnancy (p=0.007). All of the blastocysts that led to clinical pregnancies had levels of mtDNA lower than the critical threshold, while all 14 with levels higher than the threshold (30 percent of the non-implanting blastocysts) failed to implant. These results indicate that abnormal levels of mtDNA are present in about one-third of non-implanting chromosomally normal embryos, but are not seen in embryos forming a viable pregnancy.

A prospective, blinded study followed, involving chromosomally normal blastocysts transferred to the uterus. Some of these embryos had high levels of mtDNA, above the previously established threshold. It was predicted that none of these embryos would implant. This prediction was correct in all cases, giving a 100 percent negative predictive value. Conversely, the team predicted that embryos with quantities of mtDNA below the threshold would have a better than average chance of producing a pregnancy; nearly 60 percent did. In contrast, the overall pregnancy rate in the group was 38 percent when mtDNA was not considered prior to transfer.

MitoGrade™ is already available through Reprogenetics UK and will become routinely available in the US after July 1st.

The full PLOS Genetics article may be accessed at:

About Reprogenetics
Reprogenetics is the worldwide largest genetics laboratory specializing in preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD), with over 50,000 performed procedures, >300,000 tested embryos, and hundreds of scientific publications. PGS has the potential to improve the success of IVF treatments by identifying embryos with the correct number of chromosomes. These embryos have an increased potential to implant in the uterus and produce a live birth. PGD tests embryos for specific inherited disorders being passed through families from one generation to the next. Only healthy embryos are transferred to the mother's uterus and consequently the risk of an affected pregnancy is greatly reduced. PGS and PGD testing can be combined so that a patient can benefit from both technologies, as embryos that are free of a specific disorder are not always chromosomally normal. Recombine, a sister company, can screen saliva or blood samples of couples planning to conceive for over 250 diseases and if found to be carriers they can avoid transmitting the disorders by using PGD testing. Dr. Santiago Munné and Dr. Jacques Cohen founded Reprogenetics in 2000 after extensive experience in PGD and IVF. Reprogenetics offers a comprehensive and personalized service to its referring Fertility centers and their patients.

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