Reprogenetics

Intra-age, intercenter, and intercycle differences in chromosome abnormalities in oocytes

admin — Tue, 10 Apr 2012 15:55:28 +0000

A total of 226 patients underwent 452 cycles of preimplantation genetic screening. Differences within age groups were wide, with 0-100% of oocytes being chromosomally normal in all age groups. Euploidy rates between centers were significantly different (48% vs. 25%). Intercycle differences for the same patient were also wide (0-100%), but with 68.5% of patients having less than ±2 euploid eggs of difference between cycles.

Although euploidy rate decreased on average with advancing maternal age, the high intra-age and intercenter variation in oocyte chromosome abnormalities emphasize the difficulty in estimating how many euploid oocytes a specific woman will have. This may have repercussions for fertility preservation where a defined number of eggs are currently frozen just based on maternal age.

For more information PubMed

1 Santiago Munne et al. Fertility and Sterility, 2012, Apr;97(4):935-42

Array CGH analysis: aneuploidy is not related with the number of embryos generated

admin — Mon, 09 Apr 2012 19:59:53 +0000

Abstract

This study retrospectively analysed array comparative genomic hybridization (CGH) results of 7753 embryos from 990 patients to determine the frequency of embryonic euploidy and its relationship with the cohort size (i.e. the number of embryos available for biopsy and array CGH analysis). Linear regression analysis was performed to assess the effect of cohort size on euploidy rate adjusted for the effect of female age. While increasing female age was associated with a significant decrease in euploidy rate of day-3 and day-5 embryos (P < 0.001 for both groups), cohort size was not significantly associated with euploidy rate. Logistic regression analysis was performed to assess the effect of cohort size, adjusted for maternal age, on the likelihood of having at least one euploid embryo available for transfer. The odds of having at least one euploid embryo in an assisted cycle was significantly decreased by increasing female age (P < 0.01 for both day-3 and day-5 embryos) and was significantly increased by every additional embryo available for analysis (P < 0.01 for both day-3 and day-5 embryos).

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Dr. Santiago Munné Featured in Infertility & Reproductive News

admin — Sun, 29 Jan 2012 21:19:05 +0000

“Focus on Array Comparative Genomic Hybridization
Santiago Munné, PhD, head of Reprogenetics, Livingston, NJ, had helped to develop the first PGD test in the early 1990s. In 2001 he created Reprogenetics, the first laboratory in the United States to be accredited to perform PGD. The work performed by Dr Munné and his team these days focuses on array comparative genomic hybridization (aCGH). This technique highlights the presence of defects such as microdeletions and duplications in the DNA and uses a standard control rather than parental DNA in the analysis..”

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Reprogenetics wins the SART Prize Paper at ASRM in Orlando, FL

admin — Tue, 18 Oct 2011 17:22:55 +0000

Congratulations to Dagan Wells, PhD and Reprogenetics for winning the SART Prize Paper at the 67th Annual Meeting of the American Society for Reproductive Medicine (ASRM) in Orlando, FL
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Validation of Array Comparative Genomic Hybridization for Pre-implantation Genetic Diagnosis

admin — Wed, 10 Aug 2011 16:09:04 +0000

Researchers at Reprogenetics have published a study demonstrating the high accuracy of a new technique, called array CGH (aCGH), for analysis and screening of all chromosomes in human embryos. The authors report that errors or potential misdiagnoses occur very rarely with this technique. In the case of individual blastomeres from day-3 embryos, the error rate is only 1.8%, despite complications arising from mosaic embryos; these are embryos with a mix of normal and abnormal cells. They are known to occur frequently in vitro and can cause non-technical diagnostic errors during PGD. Further research at Reprogenetics has shown the accuracy of aCGH for blastocyst (day-5) biopsies to be 100% (unpublished data). This is clearly very encouraging.

The error rate published by Gutierrez and co-workers was obtained through the full analysis of all blastomeres in embryos that were previously analyzed and excluded from transfer based on chromosomal and other abnormalities; the results of the reanalysis were then compared with the original results obtained based on analysis of one (day-3) or a few cells (day-5). The 1.8% error rate indicates that only 2 of every 100 embryos had discordant results, that is, they were classified as abnormal but were not entirely abnormal; none of those classified as normal was found to be abnormal.

Many laboratories do not publish error rates which is problematic because they have no reference point for the results they produce. In our view, reanalysis of embryos using either the same technique or another technique as a quality control measure is critical for genetic testing laboratories. Implementation of such Quality Control/Quality Assurance measures sets Reprogenetics apart from many of its competitors.

“We now think that although mosaicism is very common in human embryos, a majority of mosaic embryos are what we call chaotic mosaics, resulting from a random distribution of chromosomes from cell division to cell division. Analysis of all chromosomes in every cell in these embryos shows that the likelihood of one cell having a normal chromosome count is slim to none. With previous techniques, not all chromosomes were analyzed; some cells appeared to be normal for the chromosomes analyzed, suggesting that mosaic embryos could produce a misdiagnosis.” Comments Santiago Munné, President of Reprogenetics and senior author on the article.

For more information: PubMed

1 Gutierrez-Mateo et al. Fertility and Sterility, 2011, 95:953-958