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
- Cumulus cell transcriptome profiling is not predictive of live birth after in vitro fertilization: a paired analysis of euploid sibling blastocysts.
Green KA Franasiak JM Werner MD Tao X Landis JN Scott RT Treff NR 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Fertil Steril. 2018 Feb 7. pii: S0015-0282(17)32045-9. doi: 10.1016/j.fertnstert.2017.11.002. [Epub ahead of print]
- The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser DJ 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Obstet Gynecol Clin North Am. 2018 Mar;45(1):143-154. doi: 10.1016/j.ogc.2017.10.007. Review.
- Validation of a targeted next generation sequencing-based comprehensive chromosomescreening platform for detection of triploidy in human blastocysts.
Marin D Zimmerman R Tao X Zhan Y Scott RT Treff NR 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Reprod Biomed Online. 2018 Jan 2. pii: S1472-6483(17)30710-1. doi: 10.1016/j.rbmo.2017.12.015. [Epub ahead of print]
- NGS Analysis of Human Embryo Culture Media Reveals miRNAs of Extra Embryonic Origin.
Sanchez-Ribas I Diaz-Gimeno P Quiñonero A Ojeda M Larreategui Z Ballesteros A Dominguez F 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Reprod Sci. 2018 Jan 1:1933719118766252. doi: 10.1177/1933719118766252. [Epub ahead of print]
- Origin and composition of cell-free DNA in spent medium from human embryo culture during preimplantation development.
Vera-Rodriguez M Diez-Juan A Jimenez-Almazan J Martinez S Navarro R Peinado V Mercader A Meseguer M Blesa D Moreno I Valbuena D Rubio C Simón C 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Hum Reprod. 2018 Feb 20. doi: 10.1093/humrep/dey028. [Epub ahead of print]
- What Drives Embryo Development? Chromosomal Normality or Mitochondria?
Bayram A Elkhatib I Arnanz A Linan A Ruiz F Lawrenz B Fatemi H 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Case Rep Genet. 2017;2017:4397434. doi: 10.1155/2017/4397434. Epub 2017 Aug 8.
- Sociocultural influences on fertility in the Middle East: the role of parental consanguinity, obesity and vitamin D deficiency.
Bosdou JK Kolibianakis EM Tarlatzis BC Fatemi H 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Fertil Steril. 2016 Aug;106(2):259-60. doi: 10.1016/j.fertnstert.2016.04.010. Epub 2016 Apr 25.
- Reply: Detecting mosaicism in trophectoderm biopsies.
Capalbo A Ubaldi F Rienzi L Scott RT Treff N 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Hum Reprod. 2017 Mar 1;32(3):714-715. doi: 10.1093/humrep/dew347. No abstract available.
- Abnormally fertilized oocytes can result in healthy live births: improved genetic technologies for preimplantation genetic testing can be used to rescue viable embryos in in vitro fertilization cycles
Capalbo A Treff N Cimadomo D Tao X Ferrero S Vaiarelli A Colamaria S Maggiulli R Orlando G Scarica C Scott RT Ubaldi FM Rienzi L 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Fertil Steril. 2017 Sep 15. pii: S0015-0282(17)31699-0. doi: 10.1016/j.fertnstert.2017.08.004. [Epub ahead of print
- Genomic instability during reprogramming by nuclear transfer is DNA replication dependent.
Chia G Agudo J Treff N Sauer MV Billing D Brown BD Baer R Egli D 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Nat Cell Biol. 2017 Apr;19(4):282-291. doi: 10.1038/ncb3485. Epub 2017 Mar 6.
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Presentations from this area
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Morin SJ Tao X Bedard J Landis J Zhan Y Scott RT Seli E Epigenetic Clock Model of Somatic Aging Accurately Predicts Chronologic Age When Applied to White Blood Cells But Not Cumulus Cells in Reproductive Age Women Presented at the 65th Annual Meeting of the Society for Reproductive Investigation
SRI 2018
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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 65th Annual Meeting of the Society for Reproductive Investigation
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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 73rd annual meeting of the American Society of Reproductive Medicine
ASRM 2017
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Eccles JM Iturriaga A Garnsey HM Landis LN Zhan Y Scott RT Treff N Zimmerman RS
Experience with a targeted next generation sequencing (TNGS) platform for comprehensive chromosome screening (CCS) on over 16 000 embryo biopsies
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Franasiak JM Hong KH Werner MD Juneau CR Morin SJ Neal SA Molinaro T Scott RT
Preimplantation genetic screening (PGS) in low responders shortens time to pregnancy: a randomized controlled trial
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Franasiak JM Scott RT Molina L Pellicer A
Serum vitamin D (OHD) levels are correlated with embryonic aneuploidy
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Garnsey HM Eccles JM Iturriaga A Scott RT Zimmerman RS
Incidental diagnosis of a parental balanced reciprocal rearrangement in couples undergoing routine aneuploidy screening by targeted next generation sequencing (TNGS)
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Marin D Sun L Scott RT Treff N
Increased implantation rates with targeted next generation sequencing (TNGS) compared to QPCR-based comprehensive chromosome screening
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Marin D Zimmerman RS Jalas C Zhan Y Lonczak A Scott RT Treff N
The perks of going targeted: sample contamination DNA fingerprinting and chromosomal mosaicism accurately predicted by targeted NGS-based comprehensive chromosome screening
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Marin D Zimmerman RS Tao X Zhan Y Scott RT Treff N
The challenge of polyploidy and comprehensive chromosome screening: validation of a targeted next generation sequencing (TNGS) platform for detection of triploidy in human blastocysts
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Morin SJ Patounakis G Juneau CR Neal SA Scott RT Seli E
Quantity versus quality: do patients with diminished ovarian reserve (DOR) and poor response to stimulation also exhibit poor blastulation and increased aneuploidy
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Neal SA Forman EJ Juneau CR Morin SJ Molinaro T Sun L Zimmerman RS Scott RT
Rebiopsy and preimplantation genetic screening (PGS) reanalysis for embryos with an initial non-diagnostic result yields a euploid result in the majority of cases
Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
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Garcia_Herrero S Ferro J Campos-Galindo I Mateu E Milán M Peinado V Rodrigo L Rubio C Simón C Feto-placental discrepancies in the analysis of products of conception in clinical miscarriages reveals that mosaicism is not restricted to trophoblast cells Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
ESHRE 2017
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González-Ravina C Cruz M Rubio C Fernández-Sánchez M Oquiñena E Ferrando R Requena A
Polymorphic chromosome variants, human inversions, and their functional consequences in male infertility
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
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Liñán Tegedor A Bayram A Arnanz A Rubio C Chopra R Elkhatib I Simón S Fatemi HM
Concordance rates between single blastomere day-3 (D3) and trophectoderm biopsies (D5) using Next Generation Sequencing (NGS)
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
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Marin D Zimmerman R Jalas C Tao X Zhan Y Scott RT Treff N
A novel next generation sequencing (NGS)-based comprehensive chromosome screening (CCS) platform that provides accurate copy number and genotyping in parallel from a single trophectoderm biopsy
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
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Rubio Lluesa C Cruz M González-Ravina N Fernández-Sánchez M Oquiñena E Requena A
Polymorphism on chromosome 21 does not affect ovarian reserve but clinical outcomes after in vitro fertilization treatments
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
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Shah P Banker M Singh S Patel D Kotadawala A
Clinical outcomes using human euploid embryos after quantification of mitochondrial DNA content as a viability predictor tool
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology
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Vera-Rodriguez M Diez-Juan A Martinez S Peinado V Mercader A Moreno I Valbuena D Blesa D Simon C Rubio C
Non-Invasive PGS reveals the existence of complementary aneuploidy between DNA obtained from trophectodermbiopsy versus DNA in spent culture medium in the same embryo
Presented at the 33rd annual meeting of the European Society of Human Reproduction and Embryology