Recombine Publishes Paper Discussing the Use of Arrays in Clinical Diagnosis of Embryos


In this December’s issue of Reproductive Biomedicine Online, the Recombine team published a review about the use of Microarrays for diagnosing both aneuploidy and single gene defects. The discussion is important as it brings to light a number of the promises, potential shortcomings, and improvements that can be made such that array technologies can help bring about higher success rates for fertility patients by employing newer biological techniques such as aCGH or SNP Microarrays.

The review, titled, “PGD and aneuploidy screening for 24 chromosomes: Advantages and disadvantages of competing platforms” discusses major developments in Preimplantation Genetic Diagnosis (PGD). Specifically, the review addresses the movement towards routine screening of 24 chromosomes and associated increases in implantation and pregnancy rates. Ethics and questions surrounding data quality for the reporting of parental origin of chromosomal aneuploidy were also raised.

Finally, the issue of low call rates on SNP microarrays arising from imperfect Whole Genome Amplification (WGA) protocols was analyzed and discussed. Reconstruction of parental haplotypes, though possible to a degree, still produced results further than ideal from clinical appropriateness. However, with improvements in WGA and or targeted SNPs would help ameliorate such concerns. Such technological innovations bring with them the promise of higher pregnancy rates and healthy children.


About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.

  • Hi,Thanks. I have myself been quite unusscecsful to make GWAS specialists understand the importance of chromosome crosstalk in the context of GWAS. I guess that the line of thinking in three dimensions is currently not trendy in the GWAS research area. This may probably have to change if the aim is to understand the function of the loci identified in GWAS screens.There are so many different issues emerging from the 3D perspective of GWAS. One is that chromosome interactomes are poorly evolutionarily conserved making it less meaningful to use animal model systems for human diseases. Another is the functional commonality of the interactome nodes that might be candidate loci in GWAS screens. ETC.The problem is that Anita and I saw this opportunity to spread the gospel of chromosome interactomes in GWAS a wee late and do not really have the time to write too much on this manuscript from next week and onwards. As I have not received any response from the original authors it is quite possible that the paragraph and the angle provided by the paragraph that Anita Gf6ndf6r and I wrote will have to be deleted in the final version of the manuscript. That would be a pity,Rolf