Advancing PGD with karyomapping

PGD for Clinical Labs

Balanced translocation carriers may not present with a clinical phenotype; however, they often have a history of infertility or recurrent pregnancy loss. Couples presenting with infertility or recurrent miscarriage can be karyotyped to determine whether a balanced translocation is present in either individual. Even without a history of infertility, if either partner has a translocation, their children are at a higher risk for birth defects and/or intellectual disability.2-3

If a translocation is identified, the couple can use PGD to improve their chances of an unaffected pregnancy. During PGD, embryos are analyzed to determine which inherited an unbalanced translocation. Embryos without a translocation or those with a balanced translocation, much like that of the carrier parent, would be considered for transfer.

Illumina offers a solution for PGD that includes: 24sure+

The 24sure+ microarray is designed to improve the success of in vitro fertilization (IVF) by detecting chromosomal imbalances in embryos of reciprocal translocation carriers. 24sure+ includes increased coverage of pericentromeric and subtelomeric regions to ensure the identification and reporting of the smallest derived chromosome fragments from single cells of polar bodies, blastomeres, and blastocysts.

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24Sure+ microarrays

Current preimplantation genetic diagnosis (PGD) methods for single-gene disorders examine the inheritance of short tandem repeats (STRs) adjacent to the disorder’s specific loci. STR methods are expensive and time-consuming because they are developed for each individual case.

Our karyomapping solution is a faster alternative to STR analysis for PGD.1 Using genome-wide linkage-based analysis from a single cell, karyomapping detects whether the gene region containing the mutation was transmitted to an embryo. This can help identify embryos that are most likely have not inherited the gene mutation to be considered for transfer.

Get Faster Results More Efficiently with Karyomapping
Karyomapping offers:
  • Faster results - Rapid workflow compared to current STR technology1
  • Minimal preparation - No disease or patient-specific workup or test design needed
  • Broad coverage - Available for use with wide variety of single-gene disorders

Illumina is committed to providing comprehensive solutions and to being a trusted partner to our customers across the reproductive genetic health continuum. PGS and PGD solutions are at the forefront of this continuum and we aim to reshape the IVF process as we know it. With a world-class community of users, Illumina is a leader in the industry, driving the evolution of innovative applications of genetic technology in reproductive health.

PCF Illumina Different

From library prep, arrays, and sequencing to informatics, Illumina next-generation solutions empower researchers and clinicians across the globe to find the answers they seek.

We’re here with all the resources you need to accelerate progress. In addition to onsite training, ongoing support, and phone consults, we offer webinars and courses around the world.

world-class solutions and a community of support
SureMDA Amplification System

The SureMDA DNA Amplification System uses whole-genome amplification to uniformly amplify total DNA for use in the karyomapping assay protocol. Following SureMDA amplification, samples are processed and hybridized to the Infinium HumanKaryomap-12 BeadChip array. System compatibility: iScan

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Infinium HumanKaryomap-12 DNA Analysis Kit

This BeadChip array targets ~300,000 of the most informative markers in the genome for efficient genome-wide coverage. Karyomapping uses biomarkers within the genome to assess the likelihood of an embryo carrying a mutated version of the gene involved in a single-gene disorder.

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NextSeq Series

A desktop sequencing system that provides the flexible power and simplicity you need to analyze whole genomes, exomes, and transcriptomes. With the introduction of new NextSeq 500 v2 Reagent Kits, we’ve optimized sequencing reagents and improved clustering chemistry, yielding the data quality you’ve come to expect from Illumina.

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BlueFuse Multi Software

BlueFuse software provides molecular cytogenetic and in vitro fertilization (IVF) data analysis in a single framework. It offers a clear, intuitive user interface; a common workflow; and scales for the needs of your lab. This widely implemented software is used in the majority of laboratories performing PGS.

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  1. Natesan S, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;(January):1–8.
  2. Nussbaum, RL; McInnes, RR; Willard, HF; Hamosh, A. Thompson & Thompson Genetics in Medicine, 7th Edition. Saunders/Elsevier, 2007.
  3. Tobias, et al. Essential Medical Genetics, 6. 2011 Wiley-Blackwell.