Second Annual Reproductive Genetic Diagnostics
-第2届生殖基因诊断年会-
地点:美国马萨诸塞州剑桥,Boston Marriott Cambridge
日期:2016年12月1 - 2日

译程最终版本已完成

经历不孕症及怀孕失败的伴侣们,现在可以使用许多分子诊断方法来判断胚胎的健康与自身的不孕状态。本年会探讨著床前诊断及筛选技术的最新动态、镶嵌现象的评估、胚胎移植的决定、CCS发展的应用趋势等主题。此外针对切片检查及玻璃化对胚胎发生可能造成的影响,正在开发的低侵入性及非侵入性PGD可能性也将受到验证。关于卵子捐赠PGD要以多少频率实施检查的相关讨论也在预定内容之中。另外也将提及CRISPR的最新动向,考量现在的研究动向与能力,讨论未来是否将采用此一技术。本年度的年会另将注目于分子诊断领域以发现不孕生物标记。

议程

第1天 | 第2天

12月1日(四)

1:00 报到


镶嵌现象

2:00 主席致词

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

2:05 表观遗传调节的早期开发机转

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 著床前基因筛选及胚胎镶嵌式染色体的课题

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.


PGD及PGS的最新动向与实践应用

3:05 为了替多发连续性妊娠滋养层疾病(葡萄胎)病患得到进行单一胚胎移植许可,NLRP7中NGS的新应用

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 展示会大厅休息、观看海报

4:15 延续PGS及NGS最适合的正倍数胚胎移植策略:随机对照试验

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 全面性染色体筛检的发展

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 赞助商发表

6:00 展示会大厅社交酒会、观看海报

7:00 第1天结束

第1天 | 第2天

12月2日(五)


7:30 早餐与座谈会

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?
 

低侵入性及非侵入性诊断的展望

8:25 主席致词

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

8:30 为了实施著床前基因筛检,使用分化胎盘胞所分泌之胞腔胚液的可能性

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 从个别卵母细胞的RNA定序所得知正倍数卵母细胞的能力与婴儿出生相关转译产物及其途径

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 为了IVF的配偶子及胚胎的非侵入性检查

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 赞助商发表

10:30 展示会大厅休息、观看海报


检查对胚胎发展的影响

11:00 主席致词

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 切片检查对著床前基因诊断人类胚胎发展能力所造成的影响

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.


不孕症及著床不全的分子诊断

11:35 人类生殖能力与不孕状态的遗传学基础解读

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 精子RNA:男性健康状态及与生出健康孩子的相关生物标记

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 作为体外受精结果生物标记的粒线体DNA

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 午餐会报或各自午餐


超越PGD:带因者筛检与POC检查

2:15 主席致词

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 基因技术时代扩大中带因者的筛选

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 胚芽细胞培养失败的产品与正常核型样本的阵列-CGH所告诉我们的细胞基因体异常光谱

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.


基因治疗:研究及可行性

3:20 专题讨论:生殖系列基因治疗中著床前基因诊断所扮演的角色

Moderator:
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 Reproductive Genetic Diagnostics学会闭幕


第1天 | 第2天


* 活动内容有可能不事先告知作更动及调整。





推荐参加的对象

  • 生殖内分泌科医师
  • 胚胎学者
  • 细胞遗传学者
  • 不孕治疗专科医师
 
  • 男性医疗/女性医疗
  • 产科/妇产科医师
  • 遗传顾问
  • 科学学者
 

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