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Comprehensive Overview of PGS Transition to NGS: Real Experiences and Future Trends

Explore the journey from PGS to NGS, highlighting technology advancements, sample analyses, and outcomes in reproductive medicine. Detailed comparisons of aCGH and NGS, evaluation of aneuploidy, and the impact on personalized reproductive medicine.

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Comprehensive Overview of PGS Transition to NGS: Real Experiences and Future Trends

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  1. Real experiences with PGS and transition to NGS Carmen Rubio Valencia, Spain Corporate presentation 2013

  2. PGS: technology evolution day-3 biopsies 2 blastomeres 1991-1995 Blastocysts Deferred transfer PCR 2008 2012 2010 FISH 2014 qPCR SNP microarray Array Comparative Genomic Hybridization (aCGH) Next-Generation Sequencing (NGS) Analysis of an identified single gene disease 24 chromosomes + Mit DNA; mutations 2-12 chromosomes 24 chromosomes

  3. aCGH vs. FISH

  4. aCGH vs. NGS N= 6,934 aCGH vs. 284 NGS cycles

  5. Agrees with published data PR: 74.7% NGS vs. 69. 2% aCGH

  6. NGS Studies NGS: day-3 and blastocyst analysis Now? Future? • Mitochondrial DNA analysis • Embryoviabilitymarkers • Single gene disorders • Blastomere and trophectoderm samples • Whole-chr and segmental aneuploidies PersonalizedReproductive Medicine

  7. NGS platform Ion Torrent™ Technology Up to 24 samples loaded on a chip Ion PGM™ System Changes in pH detected Sequencing Ion ReproSeq™ System

  8. PGS-NGS data Euploid embryo Mon 20 Tris 22

  9. NGS concordance with aCGH Embryo aneuploidy NGS aCGH

  10. Evaluation of PGS-NGS PGS-NGS evaluation Aneuploidy analysis (Whole-aneuploidies) N=81 CR (per embryo) = 97.5% CR (per chr) = 99.9% Cell lines Single Pool N=42 CR 95.5% N=38 CR 100%

  11. Evaluation of PGS-NGS Aneuploidy analysis (Whole-aneuploidies) N=133 CR (per embryo) = 99.2% CR (per chr) = 99.9% N=61 CR (per embryo) = 97.2% CR (per chr) = 99.9%

  12. PGS with aCGHand NGS Blastocyst samples 335 aCGH 60 NGS Day 3 samples 6,934 aCGH 284 NGS Day-5 /Day-6 transfer NGS technology

  13. PGS: To whom ?

  14. Day-3 vs. blastocyst? Percentage of cycles with euploid embryos (7,269 cycles) 6,934 cycles with day-3 biopsies 335 cycles with day-5/6 biopsies

  15. aCGH: abnormal embryos Percentage of abnormal embryos (38,031 embryos) analyzed 36,281 embryos with day-3 biopsies 1,750 embryos with day-5/6 biopsies

  16. aCGH detection rates VS. (*p<0.05)

  17. aCGH: Day-3 vs. blastocyst biopsies 11.7 MII 7.4 MII 9.1 MII Day-3 biopsies: N= 6,934 cycles (36,281 embryos) 13.8 MII 8.2 MII 12.8 MII Day-5/6 biopsies: N= 335 cycles (1,750 embryos)

  18. NGS: Day- 3 vs. Blastocyst NGS: 284 day-3 vs. 60 blastocystcycles NGS and aCGH inform of similar % abnormal embryos, pregnancy and implantation rates, and miscarriage rates in NGS for blastocyst biopsies. Few cycles included.

  19. NGS: day3 data (*p<0.05)

  20. Blastocyst biopsies Mercader, IVI-Valencia

  21. Vitrification at different stages Mercader et al., 2016

  22. Oocyte vitrification

  23. aCGH: day-3 biopsy RCT Study groups • Advanced maternal age (38 - 41 years) • Severe male factor (≤ 2 million/mL) Cleavagestage biopsy Polar Body biopsy Blastocyst biopsy Day-0 Day-1 ClinicalTrials.gov NCT01571076

  24. AMA - RCT with aCGH on day-3 biopsies VS. Two-side Fishers´ test ClinicalTrials.gov NCT01571076 ASRM 2015

  25. MF - RCT with aCGH on day-3 biopsies VS. *12 weeks ongoing pregnancies * p<0.05 T-Student and one-side Fishers´ test ASRM 2015

  26. Acknowledgements Scientists Technicians Moles Sara Morata María Jesus Nguyen Tuan Nieto Jessica Peris Laura Pozo Ana Singh Vinita Carlos Simón Akinwole Adedoyin Ayala Gustavo Bermell Soledad Centelles Vicente Darvin Tristan Escobedo Milagros Eskridge Roderick García Mirian Gómez María Martinez Asun Martinez Lucia Martinez Sebastian Martinez Tantra Mateos Pablo Pinares Ania Poo María Eugenia Riboldi Marcia Rincón Alejandro Rodrigo Lorena Rodríguez Beatriz Rubio Carmen Ruiz María Sánchez Maribel Sanz Lucía Sen Gurkan Uehara Mariane Valbuena Diana Vera María Vilella Felipe Whittenburg Alex Jiménez Jorge Kayali Refik Khajuria Rajni López Pilar Mae Hoover Larissa Marín Carlos Marín Lucía Martín Julio Martínez José Antonio Mateu Emilia Milán Miguel Mir Pere Miravet José Moreno Inma Navarro Roser Peinado Vanesa Al-Assmar Nasser Alberola Trini Blesa David Bandeira Carla Campos-Galindo Inma Cervero Ana Chopra Rupali Cinnioglu Cengiz Coprerski Bruno Chiu Yatfung Díaz-Juan Antonio Díaz Patricia Dizon Bautista Abelard Elshaikh Noon Garcia-Herrero Sandra Gómez Eva

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