Vitrolife now has exclusive distribution, development and commercialisation rights to Illumina’s preimplantation genetic testing business for IVF in EMEA and the Americas.
PGT-A (Preimplantation Genetic Testing for Aneuploidy), formerly referred to as PGS (Preimplantation Genetic Screening) determines the chromosomal status of an embryo by screening all 23 chromosome pairs prior to transfer in an IVF cycle.
PGT-A may be appropriate for couples pursuing IVF due to a history of infertility or recurrent pregnancy loss because a major cause of IVF failure is aneuploidy — embryos with an abnormal number of chromosomes.1,2 Aneuploidy can occur in any embryo; however, the chances increase with maternal age.3, 4
Selectively transferring embryos most likely to have a normal number of chromosomes (euploid) is important in reducing miscarriage rates and improving IVF success rates.4,5,6,7 PGT-A has the following benefits:
PGT-A can be performed using next-generation sequencing (NGS) using the VeriSeq PGS Solution on the MiSeq Sequencing Instrument.
Using Illumina technology, the VeriSeq PGS solution can screen all 24 chromosomes in as little as 12 hours for an accurate, efficient view of the number of chromosomes in an embryo.
The VeriSeq PGS Kit - MiSeq uses NGS on the Illumina MiSeq System to screen all 24 chromosomes for aneuploidy in a single assay. The assay can be used on a single-cell (blastomere biopsy) or a few cells (blastocyst biopsy) from an embryo. The VeriSeq PGS workflow goes from sample to result in approximately 12 hours.
The VeriSeq PGS Kit is designed for multiplexing up to 24 samples per run on the MiSeq System. When 24 samples are not available for a run, it is possible to run the assay in a low-throughput, fast-run mode (8-12 samples/run).
*Data calculations on file. Illumina. Inc 2015
Blastocyst biopsy sample showing aneuploidy for chromosomes 16 (Trisomy 16).
Blastocyst biopsy sample showing aneuploidy for chromosomes 7 (Monosomy 7) and 8 (Trisomy 8).
The VeriSeq PGS solution was extensively validated in a large pre-clinical, multisite study. The product was validated for the detection of aneuploidy in preimplantation embryos, with both cell lines (170 samples) and embryo biopsy samples (680 samples). The data set contained a good representation of chromosome losses and gains across all chromosomes which ensure a thorough evaluation of assay performance. Overall sample-level positive and negative agreements were 99.0 % and 99.5% respectively. VeriSeq PGS reliably detected chromosome aneuploidies in low DNA input samples across multiple sites, whether from biopsy of a single cell or a few cells.
Fiorentino et al., (2014)13 performed a validation of the VeriSeq PGS Solution to investigate its applicability to PGT-A. Karyotypically defined chromosomally abnormal single cells and whole-genome amplified products, previously analysed by array-CGH, selected from 68 clinical PGT-A cycles with embryos biopsied at cleavage stage. NGS specificity for aneuploid embryo call was 100% with a sensitivity of 100%. Fiorentino concluded that this product demonstrated a robust methodology ready for clinical applications in reproductive medicine, with the potential advantages of reduced costs and enhanced precision.
PGT-A, (Preimplantation Genetic Testing for Aneuploidy), has been shown to improve implantation and clinical pregnancy rates and reduce miscarriage rates in several, mainly single centre, randomised control studies (RCTs)8-11. Recently, a large RCT, involving 34 clinics and 9 genetic testing labs, the Single Embryo TrAnsfeR of Euploid Embryo (STAR) Study, using the VeriSeq PGS Solution showed a significant improvement in live birth rates per embryo transfer in women between the ages of 35 and 40 years. This confirms a similar effect in the US SART registry showing a significant benefit in this age range.
Combined with ‘freeze all’ blastocysts by vitrification and replacement of warmed euploid blastocysts in later managed cycles, NGS based PGT-A is a highly effective strategy for embryo selection resulting in high implantation rates at all ages, facilitating elective single embryo transfer.12 See the graph below.
Many clinics have seen the benefit of making time-lapse a standard of care for their patients. The same is true for Preimplantation Genetic Testing (PGT). The fact that there are two such widely implemented techniques has created some questions about which new technology will offer the best treatment options for improving clinical outcome.
In this webinar Dr. Tine Qvistgaard Kajhøj shows how time-lapse and PGT can be used together to offer the best overall possibility for improving outcomes and clinical workflow.Watch webinar
Learn more about how PGT-A may improve your chance of a successful pregnancyLearn more
1. Centers for Disease Control and Prevention.Org Website Accessed March 11, 2016.
2. Scott RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97(4):870-875.
3. Ata B, Kaplan B, Danzer H, et al. Array CGH analysis shows that aneuploidy is not related to the number of embryos generated. Reprod Biomed Online. 2012;24:614–620.
4. Harton GL, Munne S, Surrey M, et al. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril. 2013;100(6):1695–1703
5. Yang Z, Liu J, Collins GS, Salem SA, Liu X, et al. (2012) Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis patients: results from a randomised pilot study. Mol Cytogenet 5: 24
6 Forman EJ, Hong KH, Ferry KM, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril. 2013;100(1):100–107.
7. Grifo JA, Hodes-Wertz B, Lee HL, Amperloquio E, Clarke-Williams M, Adler A. Single thawed euploid embryo transfer improves IVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation. J Assist Reprod Genet. 2013;30(2):259–264
8. Forman EJ, Hong KH, Ferry KM, Tao X, Taylor D, Levy B, Treff NR and Scott RT (2013) In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertility and Sterility 100 100–7.e1.
9. Rubio C, Bellver J, Rodrigo L, Castillón G, Guillén A, Vidal C, Giles J, Ferrando M, Cabanillas S, Remohí J et al. (2017) In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study. Fertility and Sterility 107 1122–1129.
10. Scott RT, Upham KM, Forman EJ, Hong KH, Scott KL, Taylor D, Tao X and Treff NR (2013) Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertility and Sterility 100 697–703.
11. Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, Peck AC, Sills ES and Salem RD (2012) Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Molecular Cytogenetics 5 24.
12. Gorodeckaja J, Neumann S, McCollin A, Ottolini CS, Wang J, Ahuja K, Handyside A and Summers M (2019) High implantation and clinical pregnancy rates with single vitrified-warmed blastocyst transfer and optional aneuploidy testing for all patients. Human Fertility (Cambridge, England) 1–12
13. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, Kokocinkski F and Michel CM (2014) Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertility and Sterility Vol 101, Issue 5, Pages 1375-1382 e2.
For Research Use Only. Not for use in diagnostic procedures.
VeriSeq PGS Support Resources:
MiSeq Instrument MCS 3.1 + Local Run Manager (LRM) Software Updater Package Download:
Local Run Manager (LRM) & VeriSeq PGS Module Documentation:
Local Run Manager (LRM) VeriSeq PGS Module Download:
BlueFuse Workflow Manager (BWM) Software Documentation & Download (LRM can replace this):
BlueFuse Multi (BFM) Software Documentation & Download:
BlueFuse Multi (BFM) Annotation Database (BG_Annotation_Ens74_20160909.db):
BlueFuse Multi Server