Third Annual Advances in Prenatal Molecular Diagnostics
- 第3届年度学会:产前分子诊断的最新动向 -
2015年11月16 - 18日
美国,马萨诸塞州,波士顿,Omni Parker House Hotel

从母体血液采集无细胞DNA的次世代定序逐渐被接受及使用,对产前检查产生巨大影响。其中之一,由于选择侵入性检查的女性人数确实减少,阵列的染色体分析,在某些情况下样本解析的定序逐渐受到替换。关于非侵入性检查,在大型检查服务供应商之间产生巨大差异。NIPT在高风险怀孕以外亦试图导入普及,而检查所报告的基因条件范围扩展。不过,这些转变需要强迫牺牲。从母体血液隔离胎儿细胞的检查,做为取代无细胞DNA检查来说具有吸引力,但是这个手法的商品化上,尚存有许多课题。透过这些问题的检证与最新动向的比较、以及各种方式的导入等,就该领域所朝向的方向性再度进行活络讨论,并深入探讨研究人员、检查供应商、临床医师、以及诊所等应讨论的课题。

议程


第1天 | 第2天 | 第3天


11月16日(一)

8:00 报到登记与晨间咖啡


侵入性获得的样本

9:00 议长开会致词

Ronald_WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical School


9:10 何谓侵入性产前诊断的未来

Ronald_WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical School

Many pundits have suggested that in the near future invasive prenatal diagnostic testing will be unnecessary. Despite these dire predictions it is unlikely that this will occur. Risks to the pregnancy are extremely low and no other approach is capable of revealing within a clinically reasonable time period as much information about the fetus.

9:40 染色体结构的重新设定需要对于临床解释的核甘酸分解

Cynthia_MortonCynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor, Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women's Hospital (Boston)

Nucleotide resolution of chromosomal structural rearrangements detected in the prenatal setting is now possible in an actionable timeframe through next-gen sequencing methods, ushering in a new standard of care in clinical cytogenetics. Interpretation of phenotypic outcomes of disrupted and potentially dysregulated genes is informed by localization of topological associated domains with respect to chromosomal breakpoints, convergent genomic evidence, and quantitative assessment of transcripts in rearranged regions.

10:10 诊断用外显子定序的生殖遗传谘询课题

Ignatia B. Van den VeyerIgnatia B. Van den Veyer, M.D., Professor, Maternal-Fetal Medicine & Genetics, Baylor College of Medicine

Experience with diagnostic fetal whole exome sequencing (WES) is still limited. Guidelines on the types of results to report on fetuses and their parents are not yet available and experience with genetic counseling challenges and outcomes for fetal WES testing is limited. Patients receive reproductive genetic counseling either for a result in a family member that has implications for a current or planned pregnancy, or for consideration of diagnostic fetal WES for an ongoing pregnancy. In the latter, pathogenic variants can be detected in at least 30%. Challenges related to complexity and uncertainty of results, turn-around time, cost and insurance overage, and multidisciplinary fetal care coordination.

10:40 休息时间

11:15 知识发展:促进新产前基因检查的临床导入的创新教育策略

Valerie DesiletsValerie Desilets, M.D., Medical Geneticist, Departments of Pediatrics and Obstetrics-Gynecology, University of Sherbrooke (Canada)

The introduction of new prenatal genetic testing, such as array-based technologies and next-gen sequencing of cell-free DNA in maternal blood, has significantly changed the investigation in prenatal diagnosis. The clinical implementation of such technologies mandates a careful evaluation of the current educational interventions to help clinicians understand the evolving indications and limitations of these tests. Educational leaders must consider the barriers and facilitators to changing practice, and evaluate the effectiveness of their dissemination and implementation strategies. Innovative educational strategies are required to face the challenges of rapidly changing knowledge, at the intersections of research and clinical medicine, in the multidisciplinary field of prenatal diagnosis.

11:45 遗传谘询课题:贴近病患的产前诊断之路

Mary-Frances GarberMary-Frances Garber, MS, CGC, Private Practice: Listening, Reflecting, Healing

With the advancements in screening and testing options, patients have a menu they can select from in an attempt to gain reassurance about the health of their baby, or to obtain a prenatal diagnosis of a certain condition. Genetic counselors have always had the responsibility of educating patients regarding the specifics surrounding these testing options,but perhaps more importantly travelling with and supporting couples on their prenatal diagnosis journey. Some of the ways genetic counseling has changed, as well as specific cases to illustrate counseling challenges, will be presented.

12:15 午间简报发表:非侵入性产前筛检(NIPS)的Seraseq™非整倍体标准物质

Russell GarlickRussell Garlick, Ph.D., CSO, SeraCare Life Sciences

The detection of circulating cell-free fetal DNA (cfDNA) in maternal blood by next-generation sequencing is becoming the preferred method to screen for fetal aneuploidy. As the market rapidly moves from high risk screening to "population" screening there is a need for reliable controls. The use of proper controls, standards and reference materials has always been central to all molecular diagnostic laboratory quality management systems in order to ensure accurate results are reported. This presentation will focus on a new generation of NGS aneuploidy controls for non-invasive prenatal screening assays.

12:45 休息时间


非侵入性产前诊断(NIPD)

1:45 议长评论

Joe_SimpsoJoe Leigh Simpson, M.D., Senior Vice President, Research and Global Programs, March of Dimes Foundation


1:50 产前诊断经济分析

Aaron CaugheyAaron Caughey, Ph.D., Professor and Chair, Department for Women's Health Research & Policy, Oregon Health & Science University

There are a number of important economic considerations related to prenatal diagnosis. An analysis of both short- and long-term costs, as well as the impact on quality-adjusted life years related to prenatal diagnostic decision making, will be presented. Specific analytic approaches related to cost-effectiveness will also be explored.

2:20 NIPT不仅是高风险,而是扩大至所有怀孕的赞成与反对

Joe_SimpsoJoe Leigh Simpson, M.D., Senior Vice President, Research and Global Programs, March of Dimes Foundation

Detection of fetal aneuploidy through cell-free fetal DNA in maternal blood unequivocally is superior to traditional serum analyte/nuchal translucency. Sensitivity for tested aneuploids is higher (trisomy 21 > 99% versus at best 92-93%) and false rates much lower (0.1% versus 5%). Even greater value will be gained when NIPT can routinely yield information comparable to array CGH or at least karyotypes (5-7 Mb aberrations). Ability to extend further into transcriptomics will allow monitoring fetal development beyond traditional fetal genetic disorders.

2:50 大型综合照护系统的无细胞胎儿DNA筛检

Jeffrey GreenbergJeffrey Greenberg, MS, Genetic Screening Program Director, Genetic Services, SC Permanente Medical Group

The workflow, uptake, performance and outcomes of cell-free fetal DNA prenatal screening in a large integrated health care system will be presented. Prenatal screening in California is unique in its standardization under the Department of Public Health, which mandates the offering of, and oversees the testing and follow-up for, statewide analyte screening. Statistics for 1.5 years of cell-free DNA testing in a high-risk population will also be discussed.

3:20 展示会大厅休息与论文海报发表参观

4:00 NIPT的导入:技术发展的个案研究

Gautam KolluGautam Kollu, Head, Market Development, Reproductive and Genetic Health, Illumina

Since its introduction in 2012, NIPT has become the fastest adopted test in the history of molecular diagnostics and is currently the most widely used NGS clinical test. In the past two years, various labs have introduced panels and technological advancements that have expanded the clinical applications of NIPT. This talk will cover the evolution of NIPT from a focused test to its current state, with an eye on how the testing infrastructure has changed globally from a few California labs to labs worldwide doing this test.

4:30 筛检母集团的医疗经济学

Sabah OneySabah Oney, Ph.D., Director, Business Development,
Operations, Ariosa Diagnostics, Inc.



5:00 IONA®检查(CE-IVD)的临床实绩

William (Pepper) DenmanWilliam (Pepper) Denman, M.D., CMO, Premaitha Health

The IONA® test (CE-IVD) offers accurate non-invasive prenatal screening for Trisomy 21, 18 and 13 with a significant reduction in time to report results. Clinical performance to date of the IONA® test and the advantages offered to the clinical team will be highlighted.

NIPD Genetics5:15 非侵入性产前检查的精度确立与验证

Philippos C. PatsalisPhilippos C. Patsalis, Ph.D., Head of Translational Genetics,
The Cyprus Institute of Neurology and Genetics

The Veracity is a new Non-Invasive Prenatal Test, which was developed and validated to serve as an accurate and affordable screening test for trisomies 21, 18 and 13. Veracity is a novel targeted NIPT approach following the design of specific regions on chromosomes 13, 18, 21, X and Y, capture and alignment of DNA fragments, and count and sophisticated analysis to achieve binary risk classification. The new test was validated by two blind independent clinical studies for the total of 706 samples, providing outstanding accuracy for trisomies 21, 18, 13 and gender determination. The Veracity test is available internationally as an affordable and very accurate screening test as of May 2015.

5:30 展示会大厅欢迎酒会与论文海报发表参观

6:30 第1天结束


第1天 | 第2天 | 第3天


11月17日(二)

7:45 报到登记


8:00 专题会议讨论

讨论主题: 

  • 侵入性获得样本的微阵列与序列分析的最佳实务
  • 产前检查经济学
  • 产前诊断相关伦理及遗传谘询问题
  • NIPT的胎儿划分决定之价值
  • 以低风险怀孕为对象之NIPT实施的赞成与反对
  • NIPT解释的生物信息学
  • 单一基因疾病的检查
  • 微小缺失、置入、复制数变异、以及转位的评价
  • 少量胎儿细胞样本的全基因复制的课题
  • 胎儿细胞NIPD商品化的课题与展望
  • 评价妊娠毒血症及早期阵痛风险的生物标记


非侵入性产前诊断(NIPD)(接续)

8:55 议长评论

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems


9:00 单一基因疾病的非侵入性产前诊断领域的分子诊断之发展:过去实绩与未来展望

Michael ParksMichael Parks, Ph.D., Developmental Scientist, Regional Genetics, Birmingham Women's NHS Foundation Trust (United Kingdom)

NIPT of aneuploidies using cell free fetal DNA is now an established method offered in many countries, including the US and the UK. Although research has proven that non-invasive prenatal diagnosis (NIPD) of single gene disorders is also possible, the relevant costs for these tests have been high. We have developed a molecular diagnostic method for NIPD of single gene disorders which has proven to be both accurate and affordable. After having successfully tested numerous patients at risk of bearing a child affected by Duchenne/Becker muscular dystrophies, we are now adapting our method to test patients for other single gene disorders. By being accurate, affordable and easily adaptable to detect most single gene disorders, our method could allow clinical genetics laboratories to offer safe and accurate NIPD of single gene disorders to their patients.

9:30 利用大规模集团的单一基因疾病产前检查:情侣筛检个案

Glenn E. PalomakiGlenn E. Palomaki, Ph.D., Associate Professor, Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University

The field of prenatal screening is experiencing a rapidly expanding ability to simultaneously test for many single gene disorders. The introduction of such tests is hampered, however, by several implementation issues that may have at least a partial solution in offering such testing to couples rather than the mother then father in a long-standing sequential model. The methods and history of couple screening will be reviewed. Some of the issues relating to implementation of newer approaches will also be discussed. Specific examples from currently offered tests will be given.

10:00 超越非整倍体:成为脑部疾病原因的复制数变异(CNV)之产前检测与解释

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems

Although individually rare, pathogenic CNVs are collectively common, occurring in ~1% of the general population and in low risk pregnancies. Many of these newly described CNV disorders are associated with significant cognitive (intellectual disability), behavioral (e.g., autism) and psychiatric (e.g., schizophrenia) manifestations and are therefore important for consideration in counseling regarding prenatal diagnostic options.

10:30 展示会大厅休息与论文海报发表参观


11:10 NIPT厂商座谈会

Moderator: Phillips Kuhl, President, Cambridge Healthtech Institute

Panelists:

Sabah OneySabah Oney, Ph.D., Director, Business Development, Ariosa Diagnostics


Gautam KolluGautam Kollu, Head, Market Development, Reproductive and Genetic Health, Illumina


Philippos C. PatsalisPhilippos C. Patsalis, Ph.D., Head, Translational Genetics, The Cyprus Institute of Neurology and Genetics on behalf of NIPD Genetics Ltd.


John AnsonJohn Anson, Ph.D., Executive Vice President, Research & Development, Oxford Gene Technology


Peter CollinsPeter Collins, Chief Commercial Officer, Premaitha Health


Douglas RabinDouglas Rabin, M.D., Medical Director, Women's Health, Quest Diagnostics


Mathias Ehrich, Ph.D., Vice President, Research & Development, Sequenom


 

12:30 午餐简报或各自用餐


来自母体血液的胎儿细胞之可能性与展望

1:45 议长评论

arthur_beaudetArthur L. Beaudet, M.D., Chair, Department of Molecular & Human Genetics, Baylor College of Medicine


1:50 TRIC:建构胎盘及胎儿基因的新境地

D. Randall ArmantD. Randall Armant, Ph.D., Professor, Obstetrics and Gynecology, Wayne State University School of Medicine

Safe access to fetal tissue during pregnancies is the "Holy Grail" of noninvasive prenatal testing. Trophoblast Retrieval and Isolation from the Cervix (TRIC) is a safe, noninvasive procedure that captures fetal placental cells as early as 3 weeks after conception, and holds promise for fetal genetic testing and assessment of maternal risk for obstetric complications. Characterization and performance of the process, which provides intact human genome for molecular analysis, will be presented. Because developmental errors in extravillous trophoblast cells contribute to preeclampsia, fetal growth restriction and miscarriage, genetic analysis of these cells from the first trimester can provide very informative diagnostic results.

2:20 针对非侵入性产前诊断的利用细微加工MEMS装置的胎儿细胞撷取

Fanqing ChenFanqing Chen, Ph.D., Chief Scientific Advisor, R&D, Basetra, Inc.

Fetal cell isolation from maternal blood for non-invasive prenatal diagnosis presents various challenges due to the rarity of such cells. Various approaches have been attempted to extract and analyze such cells for downstream genetic analysis and diagnostic assays, but with limited and variable success. Results related to fetal cell capture using a micro fabricated MEMS device and integrated microfluidic chip as an alternative strategy to non-invasive prenatal diagnostics.

2:50 无伤胎儿细胞的恢复与分析:利用DEPArray的非侵入性产前诊断

Farideh BischoffFarideh Bischoff, Ph.D., Executive Director, Scientific Affairs, Silicon Biosystems, Inc.


3:20 展示会大厅休息与论文海报发表参观

4:00 针对非侵入性产前基因检查的无伤循环胎儿细胞(CFC)的浓缩与基因分析

David Deng, M.D., Ph.D., Chief Scientist, Next Generation Sequencing (NGS), Daan Gene Co., Ltd. of Sun Yat-Sen University

While NIPT based on sequencing of cell-free DNA has proven to be an effective non-invasive means to detect trisomies, using it for detection of many single gene or complex genetic diseases has been much more challenging. By applying unique cell stabilization reagents, intact fetal cells, which contain the entire and pure fetal genome, have been successfully isolated from all pre-term maternal samples tested as early as 6 ½ weeks of gestation. Preliminary clinical testing showed that intact CFCs were enriched from all samples tested, and tests indicated these cells are of fetal origin. The potential of using analysis of isolated fetal cells as an alternative or in addition cell-free DNA sequencing will be discussed.

4:30 细胞型非侵入性产前诊断I:细胞恢复

Steen KølvraaSteen Kølvraa, M.D., CSO, ARCEDI Biotech ApS (Denmark)

Many groups have over the years tried to develop methods for isolating sufficient fetal cells from maternal blood to perform NIPD¸ but lack of suitable markers has hampered these attempts. We have performed expression array analyses on isolated fetal cells and in this way indicated that a frequent fetal cell type in maternal blood is the endovascular trophoblast. We have used this data to identify two markers that identify fetal cells in maternal blood with very high specificity, facilitating efficient isolation of such fetal cells for non-invasive prenatal testing.

5:00 细胞型非侵入性产前诊断II:细胞分析

arthur_beaudetArthur L. Beaudet, M.D., Chair, Department of Molecular & Human Genetics, Baylor College of Medicine

We are focused on developing a fetal cell-based method of NIPT as a routine clinical test. In collaboration with multiple companies, we are now able to molecularly confirm recovery of fetal cells on a regular basis. Using whole genome amplification of 1-3 cells, it is possible to perform array CGH with these fetal cells.

5:30 胎儿有核红血球细胞的隔离与分析的进展

Brynn LevyBrynn Levy, MSc (Med)., Ph.D., FACMG, Professor of Pathology & Cell Biology, Columbia University Medical Center; Director, Clinical Cytogenetics Laboratory, Co-Director, Division of Personalized Genomic Medicine, College of Physicians and Surgeons

6:00 第2天结束


第1天 | 第2天 | 第3天


11月18日(三)


来自母体血液的胎儿细胞之可能性与展望(接续)

8:00 早餐简报或晨间咖啡

8:30 议长评论

8:35 针对基因疾病产前非侵入性诊断开发的来自循环营养细胞的纯胎儿PDA的标的化:优点与技术面

Patrizia Paterlini-BrechotPatrizia Paterlini-Brechot, Ph.D., Cellular and Molecular Biology, University of Paris Descartes, (France)

Next Generation Sequencing (NGS) of DNA from circulating trophoblastic cells is a rapid and cheaper approach for the direct and non-invasive prenatal diagnosis of aneuploidy and for exploring non-invasively a wide range of genetic disorders. Our team has shown the consistency of circulating trophoblastic cells recovery by using ISET and the interest of using the pure fetal DNA extracted from them for non-invasive prenatal diagnosis (NIPND). We show here that the application of NGS analysis to circulating trophoblastic cells opens new avenues and hopes for non-invasive prenatal diagnosis.

9:05 针对循环胎儿有核细胞(CFNC)的隔离与特性化的NanoVelcro微芯片

Hsian-Rong TsengHsian-Rong Tseng, Ph.D., Professor, Molecular and Medical Pharmacology, University of California, Los Angeles

A new non-invasive prenatal diagnostic (NIPD) technology capable of not only monitoring dynamic changes of circulating fetal nucleated cells (CFNCs) but also isolating CFNCs for prenatal genetic testing at early-stage of pregnancy has been developed at UCLA. Results from clinical evaluation of our NanoVelcro CFNCs enumeration and CFNCs genetic testing will be presented, along with potential implications for the impact of this approach on the field of prenatal molecular diagnostics.


评价母体风险的生物标记

9:35 非侵入性生殖诊断与筛检的标的化蛋白质体学

Zhou YongYong Zhou, Ph.D., Research Scientist, Hood Lab, Institute for Systems Biology

Maternal blood provides a window for real-time monitoring of placental function and fetal health during pregnancy. Mass-spectrometry-based proteomics can measure more than 100 specific blood proteins at sub ug/ml level in a single 2-hour run. Our preliminary data show that concentrations of proteins enriched in the placenta showed gestation-associated changes and the concentration changes on a few of them provide indications 2-4 weeks before preterm labor occurred. These results present new evidence that placental enriched proteins are informative targets in the blood as biomarkers to predict preterm birth and for real-time assessment of placental function.

10:05 重点照护的妊娠毒血症变异检测

Wendy DavisWendy Davis, CEO, GestVision, Inc.

Diagnosis of preeclampsia still relies on symptoms that are nonspecific for the condition, making diagnosis challenging. Recent advances have led to a highly specific urine test providing physicians with rapid information for determining patient status regarding preeclampsia.

10:35 展示会大厅休息与论文海报发表参观


11:15 座谈会:产前分子诊断的未来预测:下一个数年

arthur_beaudetArthur L. Beaudet, M.D., Chair, Department of Molecular & Human Genetics, Baylor College of Medicine


David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President & CSO, Geisinger Health Systems


Cynthia_MortonCynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor, Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women's Hospital (Boston)


Joe_SimpsoJoe Leigh Simpson, M.D., Senior Vice President, Research and Global Programs, March of Dimes Foundation


Ronald_WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical School


 

12:15 学会闭幕

* 活动内容有可能不事先告知作更动及调整。


第1天 | 第2天 | 第3天


议程顾问

arthur_beaudetArthur Beaudet, M.D., Chair, Department of Molecular & Human Genetics, Baylor College of Medicine

David LedbetterDavid H. Ledbetter, Ph.D., FACMG, Executive Vice President and CSO, Geisinger Health System

Joe_SimpsoJoe Leigh Simpson, M.D., Senior Vice President for Research and Global Programs, March of Dimes Foundation

Subhashini ChandrasekharanSubhashini Chandrasekharan, Ph.D., Research Assistant Professor, Institute for Genome Sciences & Policy, Duke University

Cynthia_MortonCynthia Morton, Ph.D., William Lambert Richardson Professor of Obstetrics, Gynecology & Reproductive Biology and Professor of Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women's Hospital

Ronald_WapnerRonald J. Wapner, M.D., Director, Reproductive Genetics & Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center


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