Defining the limits of detection for chromosome rearrangements in the preimplantation embryo using next generation sequencing

Human Reproduction
C CumanJ Mullen

Abstract

Is next generation sequencing (NGS) capable of detecting smaller sub-chromosomal rearrangements in human embryos than the manufacturer's quoted resolution suggests? NGS was able to detect unbalanced chromosome segments smaller than the manufacturer's resolution. Array Comparative Genomic Hybridization (array-CGH) has been the gold standard platform used for PGD of chromosome rearrangements. NGS is a viable alternative to array-CGH for PGD of chromosome arrangements given that the manufacturer's guidelines quote a resolution of ≥20 Mb. However, as many patients carry a chromosome rearrangement <20 Mb, the detection limits of NGS warrant further investigation. This study involved a retrospective assessment of stored DNA samples from embryos that had previously been diagnosed as unbalanced by array-CGH as part of routine PGD in two separate IVF clinics between November 2013 and April 2017. SurePlex whole genome amplification (WGA) products derived from DNA extracted from an embryo biopsy sample known to carry an unbalanced form of a chromosome rearrangement were subjected to a specific NGS workflow (VeriSeq PGS). The results from the two technologies were compared for each sample. WGA products from 200 embryos known to carry unbal...Continue Reading

References

Jan 16, 1995·American Journal of Medical Genetics·M J PettenatiM D Higgins
Jan 5, 2001·Human Genetics·J O Van Hemel, H J Eussen
Feb 2, 2016·Fertility and Sterility·Santiago MunnéDagan Wells
May 13, 2017·Annual Review of Genomics and Human Genetics·Nathan R Treff, Rebekah S Zimmerman
Aug 2, 2017·Journal of Assisted Reproduction and Genetics·Claire E Beyer, E Willats
Dec 2, 2017·Fertility and Sterility·Francesca SpinellaErmanno Greco

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