PGS-NGS 360°™

Innovators in Reproductive Genetics!

PGS-NGS 360°™Preimplantation Genetic Screening


What is PGS-NGS 360°™

PGS-NGS 360°™ (Preimplantation Genetic Diagnosis using Next Generation Sequencing) employs state of the art human genome sequencing techniques (direct reading of genetic information) to examine embryos. It opens up new diagnostic possibilities.


Results of IVF programs


Why is it worth doing the PGS-NGS 360°™?

• Analyses all autosomal and sex chromosomes• Allows for diagnosis of the most common genetic defects, including: • Downs, Edwards, Patau, Turner, and Klinefelter’s syndrome, while still • At the embryo stage• Increases the embryo implantation rate• Reduces the risk of miscarriage• Increases the number of healthy births• Increases the efficiency of single embryo transfer by reducing • The number of multiple pregnancies


What are the indications for PGS-NGS 360°™?

• Age of woman over 35• Failure of IVF programs (although embryos of normal morphology were • transferred)• Recurrent miscarriages• Genetic defects diagnosed in previous pregnancies / birth of a child with • genetic abnormalities in the past• A history of genetic defects in the family• An elective single embryo transfer during in vitro program• The intention of ruling out the presence of genetic defects in previously • frozen embryos• Need to increase the chances of pregnancy in an IVF cycle with • donor cells• Fear of childbirth with chromosomal defects


PGS-NGS 360°™The results of efficacy studies of IVF programs in patients with Repeated Implantation Failure (RIF) using the PGS-NGS 360°™.


Cooperation step by step


Cooperation step by step cont.


NGS methodology

Limitations

This test is designed to detect aneuploidy and/or irregularities from Roberstonian translocation. This test does not detect partial aneuploidy (i.e. fragments of chromosomes) or chromosome mosaicism and structural chromosomal abnormalities (e.g. a fragments of chromosome deletions, inversions, duplications) or uniparental disomy, triploidy and tetraploidy.


Next Generation Sequencing

NGS is currently the most up–to–date method of analysing DNA information in the world. It ensures exceptionally precise, reliable and comprehensive result to determine the causes of miscarriage.

99,999%*

*NGS provides an accuracy of 99.999% (Q50 quality assessment by Phred Quality Scores – an indicator developed for evaluation of DNA sequence analysis methods).


Next Generation Sequencing

The world’s first application in clinical use of NGS (Next Generation Sequencing)technology in preimplantation diagnosis.

INVICTA Genetic Laboratory: August 2013


Literature1. Łukaszuk K, Pukszta S, Wells D, [et.al.]. Routine use of next–generation sequencing for preimplantation genetic diagnosis of

blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles. J.FertilSteril. 2015 Jan 23.2. Scott RT Jr, Ferry K, Su J, Tao X, Scott K, et al. (2012) Comprehensive chromosome screening is highly predictive of the

reproductive potential of human embryos: a prospective, blinded, non–selection study. FertilSteril 97(4): 870–875. 3. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, Kokocinski F, Michel CE. Development and validation of a

next–generation sequencing–based protocol for 24–chromosome aneuploidy screening of embryos. FertilSteril. 2014 May;101(5):1375–82. doi: 10.1016/j. fertnstert.2014.01.051. Epub 2014 Mar 6

4. Fiorentino F1, Bono S2, Biricik A2, Nuccitelli A2, Cotroneo E2, Cottone G2, Kokocinski F3, Michel CE3, Minasi MG4, Greco E4.Application of next–generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. HumReprod. 2014 Dec;29(12):2802–13. doi: 10.1093/humrep/deu277. Epub 2014 Oct 21.

5. Anderson SH, Stankewicz–McKinney T, Glassner MJ, Hanshew K, Ketterson K, et al. (2013) Similar pregnancy and implantation rates following day 6 embryo transfer or frozen embryo transfer (FET) after blastocyst biopsy for preimplantation genetic screening (PGS). FertilSteril 100(3): S37.

6. Ata B, Kaplan B, Danzer H, Glassner M, Opsahl M, et al. (2012) Array CGH analysis shows that aneuploidy is not related to the number of embryos generated. Reprod Biomed Online 24(6): 614–620

7. Balmir F, Hughes M, Jenkins J, Stelling JR (2013) A pilot study comparing fluorescence in situ hybridization (FISH) analysis in preimplantation genetic screening (PGS) to array comparative genomic hybridization (aCGH) technique. FertilSteril 100(3): S206.

8. Brezina PR, Brezina DS, Kearns WG (2012) Preimplantation genetic testing. BMJ 345:e5908


Literature cont. 9. Colls P, Coates A, Peters A, Acacio B, Roche M, et al. (2013) Preimplantation genetic diagnosis at blastocyst stage by array

comparative genomic hybridization. Error rate determination. FertilSteril 100(3): S19610. Fishel S, Thornton S, Dowell K (2011) A new era of PGS for IVF – will it yield the anticipated improved efficiency? J Fertil In Vitro

1:111. Forman EJ, Hong KH, Ferry KM, Tao X, Taylor D, et al. (2013) In vitro fertilization with single euploid blastocyst transfer: a

randomized controlled trial. FertilSteril 100(1): 100–7.e112. Fragouli E, Wells D (2011) Aneuploidy in the human blastocyst. Cytogenet Genome Res 133(2–4): 149–159.13. Fragouli E, Wells D (2012) Aneuploidy screening for embryo selection. SeminReprod Med 30(4): 289–301.14. Handyside AH (2010) Preimplantation genetic diagnosis after 20 years. Reprod Biomed Online 21(3): 280–28215. Handyside AH (2013) 24–chromosome copy number analysis: a comparison of available technologies. FertilSteril 100(3): 595–

60216. Harasim T, Roesemann M, Heinrich U, Wagner A, Schiller J, et al. (2013) Detection of genetic mosaicism during preimplantation

genetic diagnosis (PGD). In: Abstracts of the 12th International Conference on Preimplantation Genetic Diagnosis; Reprod Biomed Online 6 (suppl 1)

17. Harton G, Braude P, Lashwood A, Schmutzler A, Traeger–Synodinos J, et al. (2011) ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod 26(1): 41–46.

18. Keltz MD, Vega M, Sirota I, Lederman M, Moshier EL, et al. (2013) Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages. J Assist Reprod Genet 10: 1333–1339


Literature cont.19. Lee, H–L, Hodes–Wertz B, Alexis A, Lee T–L, McCulloh D, et al. (2013) Preimplantation genetic screening improves IVF success

rate in women over 40. FertilSteril 100(3): S8320. Ata B, Kaplan B, Danzer H, Glassner M, Opsahl M, et al. (2012) Array comparative genomic hybridization screening in IVF

significantly reduces number of embryos available for cryopreservation. ClinExpReprod Med 39(2): 52–57.21. Lorwatthanasirikul J, Quangkananurug W, Rattanajitr T, Chanchamroen S, Sawakwongpra K (2013) Comprehensive chromosome

screening with vitrified warmed single blastocyst transfer increases the pregnancy rate in advanced maternal age. In: Abstracts of the 12th International Conference on Preimplantation Genetic Diagnosis; Reprod Biomed Online 6 (suppl 1)


INVICTA GENETICS Trzy Lipy 3, Gdansk 80-172 , PolandT. +48 58 58 58 804M. [email protected]. invictagenetics.com

About INVICTA GENETICSINVICTA is an experienced genetics laboratory (since 2000)

offering wide range PGD / PGS tests using state of art Next Generation Sequencing (NGS) techniques.

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PGS-NGS 360°™