Pre-implantation Genetics
The “holy grail” of reproductive medicine is to discover a technology allowing identification of those embryos that have true reproductive potential as evidenced by implantation, normal obstetrical course, and delivery of a healthy infant. While it may seem counter-intuitive that a normally developing embryo cannot implant, the reality is that many factors limit reproductive competence of the embryo that do not impact these early morphologic markers. Chief amongst these are the meiotic and mitotic errors that lead to an imbalance in the number of chromosomes present in the embryo, termed embryonic aneuploidy.
Embryonic aneuploidy is a significant factor in limiting the efficiency of reproduction, even amongst young women. We have extensively studied and validated aneuploidy testing and shown it to be a beneficial tool when applied clinically. Studies continue to further investigate the causes of aneuploidy, better determine normality, and perhaps one day provide therapy.
Investigators working in this area
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Publications from this area
- Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).
Mateu-Brull E Rodrigo L Peinado V Mercader A Campos-Galindo I Bronet F García-Herrero S Florensa M Milán M Rubio C
J Assist Reprod Genet. 2019 Dec;36(12):2547-2555. doi: 10.1007/s10815-019-01593-9. Epub 2019 Nov 6. - Time of morulation and trophectoderm quality are predictors of a live birth after euploid blastocyst transfer: a multicenter study.
Rienzi L Cimadomo D Delgado A Minasi MG Fabozzi G Gallego RD Stoppa M Bellver J Giancani A Esbert M Capalbo A Remohí J Greco E Ubaldi FM Messeguer M
Fertil Steril. 2019 Dec;112(6):1080-1093.e1. doi: 10.1016/j.fertnstert.2019.07.1322. - Erratum. Worth the wait? Day 7 blastocysts have lower euploidy rates but similar sustained implantation rates as Day 5 and Day 6 blastocysts.
Tiegs AW Sun L Patounakis G Scott RT
Hum Reprod. 2019 Nov 26. pii: dez219. doi: 10.1093/humrep/dez219. [Epub ahead of print] No abstract available. - Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).
Mateu-Brull E Rodrigo L Peinado V Mercader A Campos-Galindo I Bronet F García-Herrero S Florensa M Milán M Rubio C
J Assist Reprod Genet. 2019 Nov 6. doi: 10.1007/s10815-019-01593-9. [Epub ahead of print] - Reply: Careful and expert interpretation of PGT-A data can resolve the mosaicism dilemma.
Lawrenz B El-khatib I Fatemi HM
Hum Reprod. 2019 Nov 11. pii: dez176. doi: 10.1093/humrep/dez176. [Epub ahead of print] No abstract available. - Second-generation preimplantation genetic testing for aneuploidy in assisted reproduction: a SWOT analysis.
Bellver J Bosch E Espinós J García-Velasco JA Fabregues F Fontes J Llácer J Requena A Checa MA
Reprod Biomed Online. 2019 Aug 13. pii: S1472-6483(19)30695-9. doi: 10.1016/j.rbmo.2019.07.037. [Epub ahead of print] Review. - Impact of hypogonadotropic hypogonadism on ovarian reserve and response.
Cecchino GN Canillas GM Cruz M García-Velasco JA
J Assist Reprod Genet. 2019 Nov;36(11):2379-2384. doi: 10.1007/s10815-019-01587-7. Epub 2019 Oct 18 - Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights.
Munné S Spinella F Grifo J Zhang J Beltran MP Fragouli E Fiorentino F
Eur J Med Genet. 2019 Aug 21:103741. doi: 10.1016/j.ejmg.2019.103741. [Epub ahead of print] - Worth the wait? Day 7 blastocysts have lower euploidy rates but similar sustained implantation rates as Day 5 and Day 6 blastocysts.
Tiegs AW Sun L Patounakis G Scott RT
Hum Reprod. 2019 Aug 12. pii: dez138. doi: 10.1093/humrep/dez138. [Epub ahead of print] - mtDNA dynamics between cleavage-stage embryos and blastocysts.
De Munck N Liñan A Elkhatib l Bayram A Arnanz A Rubio C Garrido N Lawrenz B Fatemi HM
J Assist Reprod Genet. 2019 Aug 7. doi: 10.1007/s10815-019-01544-4. [Epub ahead of print]
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Presentations from this area
- Maria Sanchez-Reyes J Spath K Sebastian-Leon P Wells D Diaz-Gimeno P Presented at the 67th Annual Meeting of the Society for Reproductive Investigation Vancouver ,Canada Endometrial receptivity Female fertility S-214 Determination of Optimal Housekeeping Genes for Transcriptional Study of the Endometrium Presented at 75th American Society of Reproductive Medicine Scientific Congress
SRI 2020
- Devesa-Peiro A Sebastian-Leon P Pellicer A Diaz-Gimeno P Presented at the 67th Annual Meeting of the Society for Reproductive Investigation Vancouver ,Canada Endometrial receptivity Aging and rejuvenation T-206 Endometrial Aging Evidence at Transcriptomic Level Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Tiegs A Tao X Whitehead Neal S Osman E Kim J Hanson B Seli E Patounakis G Gutmann JN Castelbaum AJ Scott RT Presented at the 67th Annual Meeting of the Society for Reproductive Investigation Vancouver ,Canada Pre-Implantation genetics O-084 A multi-center, prospective, blinded, non-selection study evaluating the predictive value (PV) of an aneuploid preimplantation genetic testing for aneuploidy (PGT-A) diagnosis and impact of biopsy Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Esencan E Imamoglu GA Cozzolino M Seli E Presented at the 67th Annual Meeting of the Society for Reproductive Investigation Vancouver ,Canada Female fertility O-048 Mitochondrial Stress Response Gene Clpp is Not Required for Granulosa Cell Function Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Meseguer M Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF laboratory Reproductive disorders 0-164 The application of artificial oocyte activation (AOA) in patients with previous unsuccessful attempt increases the ongoing pregnancy per treatment but not per transfer, a multivariable study. Presented at 75th American Society of Reproductive Medicine Scientific Congress
ESHRE 2020
- Soriano MG Martínez J Lopez R Herraiz S Díaz-García C Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF clinical Cryobiology O-038 A new strategy to assess safety of controlled ovarian stimulation protocols for oocyte vitrification as a fertility preservation technique in breast cancer patients. Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Meseguer M Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF laboratory O-197 A full automated AI based Algorithm for prediction of implantation based on the first 24 hours of embryo development Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Albert C Valera MA Pérez-Albalá S Messeguer M Alegre L Remohí J Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF laboratory The effect of high humidity by using single step culture media on continious embryo monitoring incubator Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Henarejos-Castillo I Aleman A Martinez Montoro B Javier Gracia F Sebastian-Leon P Remohí J Patiño A Royo P Alkorta G Diaz-Gimeno P Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark Female fertility Reproductive disorders Clinical exome sequencing from peripheral blood reveals novel gene variants to prevent ovarian failure Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Hernández-Vargas P Gadea B Lozoya V Legidos V Muñoz M Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark Pre-Implantation genetics Reproductive disorders The effect of endometriosis in the chromosomal status and developmental competence of cleavage-stage embryos. Differences with embryos in the blastocyst stage Presented at 75th American Society of Reproductive Medicine Scientific Congress
- María Cruz Hennzen E Requena A Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF clinical O-156 Pituitary supression is not necessary for blocking LH surge during luteal-phase stimulation Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Fragouli Babariya Cutts G Lozoya Garcia V Fernandez Marcos E Parnell L Symon-Allen A Bronet F Florensa M Prados N Mercader A Garrido N Wells D Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark Male fertility O-295 The influence of poor semen parameters on embryonic chromosome segregation Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Drakopoulos P Di Guardo F Blockeel C De Vos M Anckaert E Verheyen G Santos-Ribeiro S Racca S Boudry L Mackens Tournaye H Vloebergs V Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark Male fertility Low male testosterone results in a substantial decrease of fresh live birth rates in couples with non-male factor infertility undergoing IVF Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Montjean D Apter S Ebner T Freour T Guns Y Kovacic B Le Clef N Marques N Meseguer M Sfontouris I Sturmey R Coticchio G Presented at the 36th annual meeting of the European Society of Human Reproduction and Embryology Copenhagen,Denmark IVF laboratory O-062 Recommendations for good practice for the use of time-lapse technology Presented at 75th American Society of Reproductive Medicine Scientific Congress
- Nelson SM La Marca A García Velasco JA Göthberg M Jonker DM Mannaerts B O-211 Impact of body weight on ovarian response after individualized or fixed follicle-stimulating hormone dosing in women undergoing ovarian stimulation for in vitro fertilization Presented at the 66th Annual Meeting of the Society for Reproductive Investigation
ASRM 2019
- Corachán A Ferrero H Escrig J Monleón J Faus A Cervelló I Pellicer A Eects of Vitamin D in Human Uterine Leiomyoma Growth in a Xenograft Animal Model. Presented at the 34rd annual meeting of the European Society of Human Reproduction and Embryology
SRI 2019
- Gonzalez-Martin R Quiñonero A Pérez S Salsano S Domínguez F Acute DEHP Exposure in Endometrial Epithelial Cells Does Not Phenocopy the Alterations Described in Endometriosis. Presented at the 34rd annual meeting of the European Society of Human Reproduction and Embryology
- Duan J Jiang Z Seli E Tian X Wang T Zhang M Evaluating mitochondrial stress response gene clpp-regulated dna methylome dynamics in female reproductive aging Presented at the 34rd annual meeting of the European Society of Human Reproduction and Embryology
ASRM 2018
- Kim G Morin SJ Patounakis G Juneau C Neal SA Abc trial: appraisal of body content. Frozen embryo cycles are not impacted by the negative effects of obesity seen in fresh cycles Presented at the 65th Annual Meeting of the Society for Reproductive Investigation
- Tiegs W Tao X Landis J Rajchel J Bedard JL Seli E Wells D Fragouli E Scott RT Evaluation of sperm mitochondrial dna copy number as a predictor of in vitro fertilization/intracytoplasmic sperm injection (ivf/icsi) cycle outcomes in a large infertile population Presented at the 65th Annual Meeting of the Society for Reproductive Investigation
- Costa-Borges N Spath K Nikitos E Ribustello L Miguel-Escalada I Rink K Kostaras K Psathas P Wells D Calderon G Cytoplasm replacement by spindle transfer demonstrates enhanced embryo development without compromising euploidy rates: pre-clinical study with donor oocytes Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Neal A Goodman LR Morin SJ Werner MD Gueye N Tiegs W Pirtea P Scott RT T-shaped uterine cavity morphology as assessed by three-dimensional ultrasound (3d us) is associated with lower sustained implantation rates and higher clinical loss rates following frozen embryo Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Nohales M Soler N Gonzalez-Picazo A Escriba M Vendrell X Bautista-Llacer R Tena R Pabon D Ploidy condition and developmental competence of unipronuclear embryos Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Dolitsky N Neal SA Olcha M Hong K Werner MD Morin SJ Tiegs W Sun L Scott RT Initial serum human chorionic gonadotropin levels predict live birth outcomes following frozen embryo transfer with and without preimplantation genetic testing for aneuploidy (pgt-a) Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Alegre L Del Gallego R Peura T Bori L Aparicio Ruiz B Adam A Coello A Castello D Meseguer M Embryologists team vs. Automated annotation software outcomes Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Layman L Feinberg E Hurst B Morin SJ Morris J Pisarka M Smith YR Price TM Academic pursuits in board certified reproductive endocrinologists Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Lara-Molina EE Franasiak JM Devesa-Peiro A Florensa M Martin M Lopez M Diaz-Gimeno P Pellicer A Ovarian vitamin d metabolism is conserved despite seasonal variability and follicular maturation Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Del Gallego R Alegre L Cnaani T Shnizer S Remohí J Meseguer M Clinical validation of a non-invasive embryo selection algorithm combining time-lapse morphokinetics and the oxidative status of spent embryo culture media. Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
ESHRE 2018
- Liñán A Bayram A Arnanz A Elkhatib I Rubio C Rupali C Garrido N Fatemi H Lawrenz B Comparison of mitochondrial DNA content in euploid and aneuploid embryos at cleavage stage and blastocyst stage with NGS Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Castillo LM Buigues A Pellegrini L Rossi V Klinger F Pellicer A Herraiz S LH gonadoprotection against ovarian damage induced by alkytaing drugs in adult mouse ovaries. Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Devesa A Sebastian-Leon P Garcia-Garcia F Arnau V Pellicer A Diaz-Gimeno P Functional genomic meta-analysis identifies similarities between endometrial-related subfertilities Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Staicu FD Martinez-Soto JC Matas C Protein kinase A modulation by nitric oxide during human sperm capacitation Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Elkhatib I Lawrenz B Linan A Arnanz A Bayram A Fatemi H Comprehensive comparison of Trophectoderm (TE) and Inner cell mass (ICM) by Next Generation Sequencing (NGS) Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Labarta E Herraiz S De Los Santos MJ Marzal A Jose Escribá M Buigues A Pellicer A Autologous mitochondrial transfer (AugmentSM) as a complementary technique to ICSI to improve oocyte and embryo quality in IVF patients. A Randomized Pilot Study. Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
- Esbert M Garrido N Ballesteros A Giménez Sanz A Florensa M Predictors of positive sperm retrieval in azoospermic Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
- Labarta E Herraiz S De Los Santos MJ Marzal A Jose Escribá M Buigues A Pellicer A Autologous stem cell ovarian transplant to improve ovarian response and reproductive outcomes in poor responder patients Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
- Tao X Zhan Y Scott K Scott RT Seli E DNA methylation is associated with ploidy status, delayed blastulation, and patient age in human embryos Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
SRI 2018
- Alegre L Garrido N Munoz M De los Santos M Remohí J Meseguer M Sperm selection with hyaluronic acid (PICSI) improves LBR in IVF treatments Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
ASRM 2017
- Bedard JL Jalas C Juneau CR Zimmerman RS Scott RT Sustained implantation rate is not impacted by increasing fragile X premutation allele size Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
- Colombo S Franasiak JM Kaser DJ Molinaro T Bergh PA Significance of endometrial lining decrease after progesterone start in synthetic frozen embryo transfer (FET) cycles Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
- Dougherty MP Morin SJ Doherty L Bohrer M Leary S Scott RT Goodman L Surgical management of complete uterine/vaginal septum with duplication of the cervix Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology