Second Annual Reproductive Genetic Diagnostics
Date: December 1 - 2, 2016
Venue: Boston Marriott Cambridge, Cambridge, Massachusetts, USA

Final Agenda Now Available

Couples experiencing infertility or failed pregnancy can now take advantage of a number of molecular diagnostic options to determine the health and wellness of their embryos as well as their own fertility. Cambridge Healthtech Institute's Second Annual Reproductive Genetic Diagnostics conference examines the latest in preimplantation diagnostic and screening technologies, including their applications in assessing mosaicism, determining embryo transfer, and evolution in CCS. The meeting will also examine the potential for less- and non-invasive PGD, being developed in response to the potential effect biopsy and vitrification may have on the development of the embryo. There will be discussion on PGD for donor eggs, such as how much or how often testing should be done. The meeting will also cover advances in CRISPR, including current research and capabilities, as well as how this technology may or may not be used in the future. New this year, special attention will be paid to molecular diagnostics for finding infertility biomarkers.

Final Agenda

Day 1 | Day 2

Thursday, December 1

1:00 pm Registration


2:00 Chairperson's Remarks

Mark Umbarger, Ph.D., Director, Research and Development, Good Start Genetics

2:05 Mechanisms of Epigenetic Regulation in Early Development

Alex_MeissnerAlexander Meissner, Ph.D., Professor, Stem Cell & Regenerative Biology, Harvard University

In mammals, cytosine methylation is predominantly restricted to CpG dinucleotides and stably distributed across the genome, with local, cell-type-specific regulation directed by DNA binding factors. This comparatively static landscape is in marked contrast with the events of fertilization, where most of the genomic methylation is erased. We will present the latest advances in our understanding of this critical window in mammalian development.

2:35 The Challenge of Embryonic Mosaicism in Preimplantation Genetic Screening

Jason_FranasiakJason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University

The very nature of embryonic mosaicism presents diagnostic, analytical, and clinical challenges. Understanding distribution of chromosome compliments throughout the embryo, the complex bioinformatics involved in characterizing mosaicism in a single embryonic biopsy, and the varied clinical outcomes of embryos designated as mosaic are fundamental to implementing this in clinical care as it pertains to preimplantation genetic screening.

Advances and Practical Applications in PGD and PGS

3:05 Novel Application of NGS at NLRP7 to Permit Single Embryo Transfer for Patient with Multiple Consecutive Gestational Trophoblastic Disease (Molar Pregnancy)

Scott_SillsE. Scott Sills, M.D., Ph.D., Medical Director, Reproductive Research Office, Center for Advanced Genetics

Gestational trophoblastic disease (molar pregnancy) occurs in about 1 of 1000 conceptions and is thought to result from fertilization of an abnormal oocyte which leads to an embryo with an irregular chromosomal constituency. Although the etiology of the condition remains incompletely understood, recent research has implicated a specific mutation (NLRP7) identified in some women with molar pregnancy. Here, we present our experience with genetic testing of both parents and blastocysts derived from IVF in a couple with five consecutive molar pregnancies. Data from PGS & gene sequencing are discussed to contribute new information concerning the genetics of molar pregnancy.

3:35 Refreshment Break in the Exhibit Hall with Poster Viewing

4:15 Optimal Euploid Embryo Transfer Strategy Following PGS with NGS: A Randomized Controlled Trial

Alison_CoatesAlison Coates, Embryology Laboratory Director, Oregon Reproductive Medicine

The two strategies currently used in clinical practice are frozen thawed or fresh transfer. The frozen thawed strategy involves cryopreservation of all blastocysts in the cohort to await PGS results in preparation for a frozen embryo transfer. The fresh strategy involves biopsy of only day 5 blastocysts and rush testing overnight for a fresh embryo transfer of euploid embryos on day 6. There are benefits and challenges to each approach.

4:45 Developments in Comprehensive Chromosome Screening

Nathan_TreffNathan R. Treff, Ph.D., Director, Molecular Biology Research, Reproductive Medicine Associates of New Jersey

Comprehensive chromosome screening (CCS) for preimplantation embryonic aneuploidy has now demonstrated the ability to improve clinical outcomes for patients with infertility in multiple randomized controlled trials. Platforms for testing include SNP array, array CGH, qPCR, and next generation sequencing (NGS). Prior to the use of these various downstream quantitation methods is the critical step of DNA amplification from limited amounts of starting material obtained from an embryo biopsy. One strategy, whole genome amplification, introduces artefacts often not overcome by highly parallel methods of quantitation and can be over interpreted as mosaicism and segmental aneuploidy. Targeted methods of amplification reduce technical artefacts and provide proven accuracy and clinical predictive values in rigorous preclinical trials. These and other aspects of contemporary CCS methodologies will be discussed.

5:15 Sponsored Presentation (Opportunity Available)

6:00 Networking Reception in the Exhibit Hall with Poster Viewing

7:00 Close of Day

Day 1 | Day 2

Friday, December 2

7:30 am Breakfast Breakout Roundtable Discussions

Should we be testing all donor egg derived embryos for aneuploidy before cryopreservation and subsequent transfer?

Alison Coates, Embryology Laboratory Director, Oregon Reproductive Medicine

  • Are pregnancy outcomes improved following PGS on donor eggs?
  • What are the clinical obstacles to making this regular practice?
  • Are there ethical concerns on part of the donor and/or the couple?

Invasive and non-invasive methods of assessing embryo viability: which is better?

Denny Sakkas, Ph. D., Scientific Director, Boston IVF

  • Does biopsy harm the embryo?
  • What information can biopsy give us and how accurate is it?
  • What non-invasive techniques will be available in the future and can they supersede PGS?

Carrier screening in reproductive health

Mark Umbarger, Ph.D., Director, Research and Development, Good Start Genetics

  • What are the major barriers to broader adoption of carrier screening and how might these barriers be eliminated/reduced?
  • What should be the overall driving force for defining test content-- total number of genes, maximal identification of at-risk couples, disorder severity?
  • As we move to the future, what can be done to provide folks with information about their carrier status at the earliest possible time, thereby maximizing their reproductive options?

Prospects for Less- and Non-Invasive Diagnostics

8:25 Chairperson's Remarks

E. Scott Sills, M.D., Ph.D., Medical Director, Reproductive Research Office, Center for Advanced Genetics

8:30 The Potential Use of Blastocoel Fluid from Differentiated Blastocysts to Conduct Preimplantation Genetic Screening

Kyle Tobler, M.D., Assistant Professor, Faculty, Reproductive Endocrinology and Infertility, Obstetrics and Gynecology, Womack Army Medical Center, Fort Bragg North Carolina

Blastocoel fluid is potentially under-utilized. This fluid may prove useful for further analysis of blastocysts as part of PGS and PGD, which would allow the genetic analysis to be completed without conducting an embryo biopsy. There are few and conflicting reports on the utility of blastocoel fluid for this purpose. This presentation will review the past research conducted on blastocoel fluid and possible future directions in the application of blastocoel fluid analysis to PGS and PGD.

9:00 Corona Cell RNA Sequencing from Individual Oocytes Revealed Transcripts and Pathways Linked to Euploid Oocyte Competence and Live Birth

Mandy_Katz-JaffeMandy Katz-Jaffe, Ph.D., Scientific and Genetics Director, Colorado Center for Reproductive Medicine

Corona cells surround the oocyte and maintain a close relationship through transzonal processes and gap junctions, making them an ideal source for the assessment of oocyte competence. In this study, individual corona cell transcriptomes were successfully generated using RNA-sequencing and reproductive outcomes analyzed following a frozen euploid blastocyst transfer. Numerous enriched pathways were associated with live birth including Wnt and MAP kinase signaling, highlighting novel non-invasive biomarkers of embryo viability.

9:30 Non-Invasive Testing of Gametes and Embryos for IVF

Denny_SakkasDenny Sakkas, Ph.D., Scientific Director, Boston IVF

The non-invasive assessment of preimplantation embryos has been largely limited to the use of morphology and has become the primary tool of the embryologist for screening gamete and embryo quality. The advent of "Omics" technologies has allowed us to broaden our assessment of gametes and embryos. This lecture will discuss how we can now assess the media surrounding the embryo using both proteomic or metabolomics based analysis. In addition, the use of advanced imaging systems that allow us to obtain relevant information linked to gamete and embryo quality will be discussed.

10:00 Sponsored Presentation (Opportunity Available)

10:30 Coffee Break in the Exhibit Hall with Poster Viewing

Impact of Testing on Embryo Development

11:00 Chairperson's Remarks

Stephen A. Krawetz, BSc, Ph.D., Associate Director, C.S. Mott Center for Human Growth and Development, Charlotte B. Failing Professor of Fetal Therapy and Diagnosis, Ob/Gyn & Molecular Medicine & Genetics, Wayne State University School of Medicine

11:05 The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

Danilo_CimadomoDanilo Cimadomo, MSc, Ph.D. Student, GENERA Center for Reproductive Medicine, Clinica Valle Giulia

The biopsy strategy represents a critical aspect not to affect embryos' intrinsic possibilities to result in a healthy full-term birth during PGD/PGD-A cycles. Single/double blastomere biopsy at the cleavage stage has been demonstrated detrimental for embryo viability. For polar body biopsy, no class I data have been produced to properly assess its value. Blastocyst stage biopsy has been instead established as the safest approach, whose implementation is indeed increasing worldwide.

Molecular Diagnostics for Infertility and Implantation Failure

11:35 Decoding the Genetic Basis of Human Fertility Potential and Infertility Conditions

Piraye_BeimPiraye Yurttas Beim, Ph.D., Founder, CEO, Celmatix

Over one-quarter of genes in the human genome have some impact on a woman's fertility. For the past seven years, Celmatix has conducted research to vet, validate and discover novel genetic biomarkers that will dramatically impact the diagnosis and treatment of infertility. Having this genetic lens on fertility goes beyond a woman's ability to conceive; a woman's reproductive health impacts every other aspect of her health including cardiovascular disease, osteoporosis, and cancer risk.

12:05 pm Sperm RNAs: Biomarkers of Male Fitness and the Birth of a Healthy Child

Stephen_KrawetzStephen A. Krawetz, BSc, Ph.D., Associate Director, C.S. Mott Center for Human Growth and Development, Charlotte B. Failing Professor of Fetal Therapy and Diagnosis, Ob/Gyn & Molecular Medicine & Genetics, Wayne State University School of Medicine

The utility of sperm RNA elements to assess the male contribution as a function of the idiopathic infertile couple is presented. Derived from sperm RNAs, these elements can identify those idiopathic infertile males who are likely to father a healthy child without the use of ART and those who would benefit from ART. Perhaps an objective assay to assess the impact of the dad's contribution for the idiopathic infertile couple is foreshadowed.

12:35 Mitochondrial DNA as a Biomarker for in vitro Fertilization Outcome

Emre_SeliEmre Seli, M.D., Professor, Obstetrics, Gynecology, and Reproductive Sciences, Yale School of Medicine

Mitochondrial function has been associated with oocyte function and embryo competence, with implications for reproductive aging. As such, testing of mitochondrial DNA content or function provides a potential target for assessment of viability of euploid embryos.

1:05 Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

Beyond PGD: Carrier Screening and POC Testing

2:15 Chairperson's Remarks

Jason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University

2:20 Carrier Screening in the Era of Expanding Genetic Technology

Aishwarya_ArjunanAishwarya Arjunan, Faculty, Center for Genetic Medicine, Northwestern University Feinburg School of Medicine

The Center for Jewish Genetics provides genetic education and carrier screening to individuals of Jewish descent. Carrier screening has traditionally been performed by targeted mutation analysis for founder mutations with an enzyme assay for Tay-Sachs carrier detection. The development of next-generation sequencing (NGS) allows for higher detection rates regardless of ethnicity. Here, we explore differences in carrier detection rates between genotyping and NGS in a primarily Jewish population.

2:50 Spectrum of Cytogenomic Abnormalities Revealed by Array-CGH in Products of Conception Culture Failure and Normal Karyotype Samples

Peining_LiPeining Li, Ph.D., Associate Professor, Genetics, Yale School of Medicine

Array comparative genomic hybridization (aCGH) analysis was performed on product of conception culture failure (POC-CF) and normal karyotype (POC-NK) samples. Compiled results from our study and reported case series demonstrated an abnormality detection rate of 35% for chromosomal abnormalities in POC-CF, 3.7% for pathogenic CNVs in POC-CF, and 4.6% for pathogenic CNVs in POC-NK. Further Ingenuity Pathway Analysis on gene content from the pathogenic CNVs revealed gene networks causing miscarriages.

Gene Therapy: Research and Potential Uses

3:20 Panel Discussion: The Role of Preimplantation Genetic Diagnosis in Germline Gene Therapy

Eugene_PergamentEugene Pergament, M.D., Ph.D., FACMG, Professor, Obstetrics and Gynecology, Northwestern; Attending, Northwestern University Medical School Memorial Hospital

Panelists: Jason Franasiak, M.D., FACOG, Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Reproductive Medicine Associates of New Jersey and Thomas Jefferson University
Peter Benn, Professor, Genetics and Genome Sciences, University of Connecticut Health Center

Germline gene therapy has now become a technical reality and the field of preimplantation genetic diagnosis will be directly involved and responsible. Unresolved are issues directly related to the ethical, moral, social and economic consequences of the application of germline gene therapy to human gametes and preimplantation embryos. Objective insights into the positive and negative implications of germline gene therapy are the focus of this panel discussion.

4:20 Close of Reproductive Genetic Diagnostics Conference

Day 1 | Day 2

* The program is subject to change without notice, due to unforeseen reason.

Who should attend:

  • Reproductive Endocrinologists
  • Embryologists
  • Cytogeneticists
  • Fertility Specialists
  • Maternal/Fetal Medicine
  • OB-GYN Physicians
  • Genetic Counselors
  • Andrologists

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