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
- Diminished ovarian reserve and poor response to stimulation in patients <38 years old: a quantitative but not qualitative reduction in performance.
Morin SJ Patounakis G Juneau CR Neal SA Scott RT Seli E
Hum Reprod, 33(8):1489-1498, 2018.
- Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage.
Neal SA Morin SJ Franasiak JM Goodman L Juneau CR Forman EJ Werner MD Scott RT
Fertil Steril, 110(5):896-904, 2018.
- Pores for thought: preimplantation genetic testing using a nanopore-based DNA sequencer.
Fragouli E Wells D
Fertil Steril, 110(5):853-855, 2018.
- Quest for a less invasive approach to preimplantation genetic testing remains ongoing
Neal SA Werner MD
Fertil Steril, 110(5):854-856, 2018.
- Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A).
Palmerola KL Vitez SF Amrane S Fischer CP Forman EJ
J Assist Reprod Genet, NA:NA-NA, 2018.
- The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies.
Fragouli E Munne S Wells D
Hum Reprod Update , 25(1):15-33, 2018.
- The model of "genetic compartments": a new insight into reproductive genetics.
Vendrell X Escribà MJ
J Assist Reprod Genet, doi: 10.1007/s10815-018-1366-3.2018
- The Status of Genetic Screening in Recurrent Pregnancy Loss.
Kaser DJ
Obstet Gynecol Clin North Am, 45(1):143-154, 2018.
- The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases.
Neal SA Werner MD
Birth Defects Res, 110(8):644-647, 2018.
- Next generation sequencing for preimplantation genetic testing for aneuploidy: friend or foe?
Fragouli E
Fertil Steril, 109(4):606-607, 2018.
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Presentations from this area
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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 34rd annual meeting of the European Society of Human Reproduction and Embryology
ESHRE 2018
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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 34rd annual meeting of the European Society of Human Reproduction and Embryology
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Morin SJ Tiegs A Jalas C Zhan Y Landis J Neal S Franasiak JM Scott RT
Higher resolution aneuploidy screening with targeted NGS may increase the pool of transferrable embryos despite inclusion of segmental and mosaic range diagnostic categories
Presented at the 34rd annual meeting of the European Society of Human Reproduction and Embryology
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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 H
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 C 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-Soto JC 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