Final Agenda Now Available

The growing acceptance and availability of cell-free DNA-based screening from maternal blood is having a dramatic impact on prenatal testing. One result has been the steady decline in the number of women choosing invasive testing, with growing shift away from karyotyping in favor of arrays, or in some cases sequencing, for analysis of these samples.

The range of approaches being employed for cell-free DNA testing continues to grow, including the release of kits for in-house analysis and so-called second generation assays that provide much improved detection of sub-chromosomal anomalies. There has been a push to expand NIPT use beyond higher-risk pregnancies, as well as extending the range of genetic conditions reported from the tests, but such changes come at a price.

Research into testing based on isolation of fetal cells from maternal blood has been underway for decades, and the discussion has been couched in terms of “if this approach can be commercialized”. At this meeting last year, for the first time, the conversation shifted to “when this approach is commercialized” as numerous groups reported substantial progress in achieving reliable isolation that would make this possible. Updated comparisons and examination of these issues, and the implementation of these different approaches, will again make for lively discussion and insight into where this field is headed and ways for researchers, test providers, clinicians and clinics to take these developments into consideration.

Pushing Towards the Limit for Non-Invasive Prenatal Testing

Y.M. Dennis Lo, Ph.D., Chairman, Chemical Pathology and Director, Li Shing Institute of Health Science, The Chinese University of Hong Kong


Final Agenda

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Tuesday, November 29

7:30 am Registration and Morning Coffee


8:30 Chairperson’s Remarks

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

8:35 Trends and Implications for Fetal Anomalies: Beyond the Karyotype

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

When a fetal structural anomaly is identified, the prognosis and subsequent counseling and treatment are dependent on understanding the underlying etiology. Although ultrasound imaging can define the structural alterations, it is incapable, in most cases, of determining the neurocognitive impact. Chromosomal microarray (CMA) and Whole Exome Sequencing (WES) now allow detailed understanding of the genomic cause of many of the anomalies. In cases with a normal karyotype, CMA will identify a causative copy number variant in 5-10% of cases. Early studies evaluating WES suggest that between 10 and 30% of anomalies may be due to a de-novo mutation.

9:15 Validation of Low-Pass Whole Genome Sequencing in Clinical Cytogenetics

Zirui (Elvis) Dong, Department of Obstetrics and Gynecology, The Chinese University of Hong Kong

DNA copy number variation (CNV) accounts for major human genetic variation, and some CNVs are associated with Pathogenicity for a range of human disorders. Chromosomal microarray analysis, including comparative genomic hybridization arrays and SNP arrays, have been widely used as the gold standard, including analysis of invasively-obtained prenatal samples. Low-pass whole genome sequencing is an alternative state-of-the-art technology that promises improved detection with unprecedented resolution. Clinical results and comparisons to array-based results will be presented.

9:45 The Impact of Health Economic Evidence on the Coverage and Reimbursement of New Prenatal Diagnostics

Mark_GirardiMark Girardi, Vice President, Market Access, GfK Health

In order to maximize coverage and adoption for new diagnostic technologies in prenatal testing, payers are requiring companies to demonstrate the potential economic as well as clinical benefits of using the new technology. Budget impact and clinical effectiveness models, which are an effective way to capture and articulate the potential value of a new technology, will be discussed.

10:15 Networking Coffee Break

10:35 Perspectives and Challenges to Genetic Counseling in the Prenatal Setting

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

The broad spectrum of genetic screening and diagnostic tests currently available presents unparalleled challenges to informing and counseling the prenatal patient. Genetic counseling now requires an unprecedented level of patient information and of understanding with regard to the implications and consequences of different forms of prenatal genetic testing. Various models of genetic counseling in the prenatal setting will be presented, addressing key counseling requirements in the era of molecular genetics.

11:05 Implementation of Patient-Like Seraseq™ Aneuploidy Reference Materials for NIPT and PGS Applications

Russell Garlick, CSO, SeraCare Life Sciences

As regulatory oversight increases, there is great demand for robust, patient-like reference materials that can be used to expedite development, perform analytical validation, and monitor daily run performance across the entire workflow. In this presentation, we describe our aneuploidy reference material technology, as well as summarize field performance for both NIPT and PGS applications.

11:35 Questions and Answers Related to Zika Virus Infection during Pregnancy

Suresh Boppana, Ph.D., University of Alabama, Birmingham

A large number of babies with microcephaly and other birth defects are born to women with Zika virus infection (ZIKV) during pregnancy during the ongoing epidemic of ZKV in Brazil and other Latin American countries. Both the WHO and CDC have concluded that there is a causal link between ZIKV during pregnancy and microcephaly. However, significant gaps including the lack of reliable, rapid and simple diagnostic methods remain in our understanding of the natural history and pathogenesis of ZIKV in pregnant women and its impact on the developing fetus. The state-of-the art knowledge on the diagnosis and monitoring of ZIKV during pregnancy and the similarities and differences with other congenital infections will be discussed.

12:00 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

Isolation and Analysis of Fetal Cells from Maternal Blood

1:30 Chairperson’s Remarks

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

1:35 High Precision Single-Cell Genomics for PGD/PGS and NIPT

Xiaoliang “Sunney” Xie, Ph.D., Department of Chemistry and Chemical Biology, Harvard University

Single-cell whole genome sequencing is becoming increasingly important for PGD/PGS and NIPT. A pre-requisite for sequencing is single-cell whole genome amplification (WGA), which currently lacks amplification uniformity, hence exhibiting low genome coverage and sequence-dependent bias. We have developed a new method for single-cell WGA which offers, to the best of our knowledge, the highest precision for copy number variation and single nucleotide variation. Most noticeably, it allows for detection of kilobase-deletions not detectable by previous single-cell WGA methods.

2:05 Validation Studies for the Launch of a CLIA-Compliant Fetal Cell-Based Noninvasive Prenatal Test

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

Steady progress has been achieved towards a fetal trophoblast-based form of NIPT. From 3-10 cells can be recovered at 8-14 weeks gestation in the majority of pregnancies. Individual cells are subjected to whole genome amplification and genotyping followed by copy number analysis using whole genome shotgun next-generation sequencing. Numerous sub-chromosomal abnormalities have been detected.

2:35 Genome Analyses Utilizing DNA from Fetal Cells in Pregnant Women’s Blood – Making a Case for Cell-Based NIPT (cbNIPT)

Ripudaman_SinghRipudaman Singh, Ph.D., COO, ARCEDI Biotech Aps (Denmark)

Non-Invasive Prenatal Testing based on fetal cells in maternal blood (cbNIPT) has an advantage over the cell-free NIPT (cfNIPT) in that the fetal DNA is not contaminated with the maternal DNA, and hence holds a potential for larger genomic coverage, higher detection rate and lower false positive rate of prenatal genetic testing. We present a high throughput method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome.

3:05 Refreshment Break in the Exhibit Hall with Poster Viewing

3:45 NanoVelcro Chips for Isolation and Characterization of Circulating Fetal Nucleated Cells – Toward Noninvasive Prenatal Diagnostics

Hsian-Rong Tseng, Ph.D., Professor, Molecular & Medical Pharmacology, University of California, Los Angeles with co-presenter Li-Ching Chen, M.D., Cathay General Hospital, Taiwan

In contrast to the existing rare-cell sorting approaches, our joint research team at UCLA pioneered the concept of “NanoVelcro” cell-affinity assay, in which a capture antibody-coated nanosubstrate substantially enhances the performance of rare cell enrichment from blood. The ways in which different generations of NanoVelcro Chips were employed in streamlined workflows to isolate and characterize single circulating fetal nucleated cells (CFNCs, including both trophoblast and fetal nucleated red blood cells) in maternal blood will be presented. Using maternal blood samples collected from expectant mothers who carried single fetuses, the CFNC-derived CGH microarray data were able to detect fetal genders and chromosomal aberrations, which had been confirmed by standard clinical practice. In addition to sharing our latest research progress in developing CFNC-based noninvasive prenatal diagnostic (NIPD) solutions, the challenges that still need to be resolved will be presented. Dr. Chen will also present clinical results using this technology.

4:15 Advances in the Isolation of Fetal Cells from Maternal Blood

Brynn 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

4:45 Technical Insights into Highly Sensitive Isolation and Genetic Characterization of Trophoblastic Cells for Prenatal Non-Invasive Diagnostics of Genetic Disorders

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

Isolation of rare trophoblastic cells from blood or from cervix is a technical challenge with impact on the number of collected fetal cells and on the quality of their DNA. By using the ISET (Isolation by Size of Epithelial Tumor/Trophoblastic cells) system, we have developed different isolation protocols and analyzed the number of collected trophoblastic cells and the quality of their DNA at the single cell level. Our results show that ISET allows the consistent recovery of trophoblastic cells from blood and cervical samples and their complete genetic analysis. They also show that high throughput protocols can be developed aiming the use of trophoblastic cells collected non invasively for prenatal diagnosis of genetic disorders.

Pushing Towards the Limit for Non-Invasive Prenatal Testing

Y.M. Dennis Lo, Ph.D., Chairman, Chemical Pathology and Director, Li Shing Institute of Health Science, The Chinese University of Hong Kong

Non-invasive prenatal testing using circulating fetal DNA in maternal plasma has been introduced globally over the past 5 years. My group is working on extracting diagnostic information that is hidden in the plasma DNA pool. One area is research concerning the tissue of origin of plasma nucleic acids. Hence, using thousands of methylation markers exhibiting tissue-associated methylation signatures, we are able to provide new insights into the origin of plasma DNA and to attribute an observed aberration in plasma DNA to its source. These new results and other emerging developments in non-invasive prenatal testing will be discussed.

6:00 Close of Day

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Wednesday, November 30

8:00 am Breakfast Breakout Roundtable Discussions

  • Can or Should Any Current Prenatal Testing Components Be Replaced?
  • Ethical and Genetic Counselling Challenges for Prenatal Testing
  • Intellectual Property Issues with New Prenatal Testing Technologies
  • Economics of Prenatal Testing Options and Reimbursement
  • Implications for Expanding Cell-Free DNA Screening for Lower Risk Mothers
  • Commercial Potential for Non-Invasively Obtained Fetal Cells
  • Prenatal Testing beyond Common Aneuploidies
  • Bioinformatics Issues for Sequence-Based Testing
  • Developing Biomarkers for Preeclampsia and Pre-Term Birth
  • Cell-Free DNA Screening

Cell-Free DNA Screening

9:00 Chairperson’s Remarks

9:05 Resource and Policy Implications of Extending NIPS

Megan Allyse, Ph.D., Assistant Professor of Biomedical Ethics, The Mayo Clinic

There are two major directions for more expanded application of NIPS. One direction involves greater depth of testing with higher risk pregnancies, by including microdeletions and other sub-chromosomal genetic conditions. The other direction involves additional patients, specifically more general population pregnancies. Both of these cases create additional public health burdens that will need to be addressed systemically if NIPS is to succeed as a routine medical procedure. Specific examples and budgetary implications will be discussed.

9:35 What Cell-Free DNA Screening Can’t Do

Mark Evans, M.D., President, Fetal Medicine Foundation of America; Professor of Obstetrics and Gynecology, Mt. Sinai School of Medicine; Comprehensive Genetics

Major advances in technology have vastly improved the scope and reliability of cell free fetal DNA. However, simultaneously similar improvements to microarray techniques now show clinically abnormal CNVs in about 1% of all CVS or amniocentesis specimens on low risk patients. Particularly for younger women the rate of finding an abnormal CNV is 10x that of Down syndrome. Thus, the effort to abandon procedures in favor of cffDNA not only costs substantially more, but detects far less. In my program we offer CVS and microarray to all patients regardless of age because of the yield of 1% which approximates the expected traditional rate of abnormalities in a 38 year old – far higher than the threshold typically used in prenatal diagnosis for the past 4 decades.

10:05 Current Status of Expanded NIPS for Aneuploidy

Peter Benn, Ph.D., Department of Genomics and Genome Sciences, University of Connecticut Health Center

Non-invasive prenatal screening (NIPS) based on cell-free DNA in maternal plasma has expanded to include additional chromosome abnormalities beyond those involving chromosomes 21, 18, 13, X and Y. This includes unbalanced chromosome rearrangements, marker chromosomes, rare autosomal aneuploidies and also sets of specific microdeletion syndromes. In this presentation, I will review the current status of this testing, discuss clinical utility, and present some of the interpretation issues associated with expanded NIPT.

10:35 Coffee Break in the Exhibit Hall with Poster Viewing

11:15 Genome-Wide Prenatal Cell Free DNA Testing: Clinical Relevance and Laboratory Experience

Daniel S. Grosu, M.D., MBA, CMO, Clinical and Medical Affairs, Sequenom, Inc.

A significant proportion of chromosomal and sub-chromosomal abnormalities in the prenatal setting are not detectable by conventional cfDNA testing. Most of this informational gap can be bridged through a genome-wide approach that reports on copy number variation at a karyotype level of resolution (≥7 Mb in size) across the entire genome, in addition to select microdeletions less than 7 Mb in size. Clinical experience with genome-wide NIPT findings in a cohort of over 10,000 patients will be reviewed, alongside the clinical relevance of such findings.

QIAGEN11:30 Optimizing the Preanlytical Workflow for Circulating Cell-Free DNA using PAXgene Blood ccfDNA System

Thomas Briggs, MS, MBA, Key Account and Business Development Manager, PreAnalytiX GmbH

Selection of preanalytical processing protocols can impact both performance and workflow efficiency when analyzing ccfDNA. The novel PAXgene Blood ccfDNA System addresses several of the common challenges in blood collection and stabilization of the ccfDNA profile during collection, storage and transport, while providing an integration system for quality ccfDNA isolation.

11:45 IP Issues in the Cell-Free DNA Testing Space

Konstantin Linnik, Ph.D., Partner, Intellectual Property, Nutter, McClennan & Fish LLP

Three recent U.S. Supreme Court decisions (Mayo, Myriad, and Alice) have produced a landslide change in IP protection for diagnostics. As a result, patent applicants and patent holders have been battled at the US Patent Office and the US courts. Many players are forced out of patent protection altogether. The currently pending case Ariosa v. Sequenom is seminal in attempting to re-dress the issues: Current state of IP protection in the U.S. and abroad for diagnostics, substance of Ariosa v. Sequenom case and how it relates to prior Supreme Court decisions, industry position, and potential future developments and practical approaches.

12:15 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

1:45 Panel Discussion with Cell-Free DNA Screening Providers


Marcia Eisenberg, Ph.D., CSO, Labcorp

Solomon_MoshkevichSolomon Moshkevich, Vice President, Product & Strategy, Natera

Peter Collins, CBO, Premaitha Health

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

Daniel Grosu, M.D., MBA, CMO, Sequenom

Gautam Kollu, Senior Director, Market Development, RGH Market

3:15 Refreshment Break in the Exhibit Hall with Poster Viewing

4:00 Strategies and Structures Needed to Ensure Patients’ Informed Access to NIPS

Ruth Farrell, M.D., Department of Obstetrics & Gynecology, Cleveland Clinic Foundation

There are a range of factors that have an impact on patient access to NIPS. One aspect of that involves patients learning about NIPS, having healthcare benefits in place to financially afford NIPT, and obtaining the resources to make an informed choice about if, when, and how to utilize it. Another involves providers, for which proper workflow is a key aspect. It is also about providers’ education and skills to help patients make informed choices about NIPT in the context of their other screening and diagnostic testing options. Experience with these issues in a clinical setting will be presented.

4:30 Comparing Differing Diagnostic Values and Differing Types of Risk for Prenatal Diagnostic Options

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

Each of the three current options (universal invasive procedure, serum analyte/NT screening, cell-free DNA screening) should be offered in the context of differing patient desires for learning the presence of either just traditional autosomal trisomy or additional karyotypic abnormalities or copy number variants.

5:00 Networking Reception in the Exhibit Hall with Poster Viewing

6:30 Close of Day

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Thursday, December 1

8:00 am Morning Coffee

Biomarkers of Preeclampsia and Pre-Term Birth

9:00 Chairperson’s Remarks

9:05 Early Pregnancy Screening for Pre-Eclampsia Using Serum and Biophysical Markers

Howard Cuckle, Ph.D., OBGYN, Tel Aviv University, (Israel) and OBGYN, Columbia University Medical Center

One reason for retaining maternal serum markers and opting for contingent cfDNA rather than universal cfDNA testing is the value of maternal markers for detecting adverse outcomes such as pre-eclampsia. The use of a combination of two maternal serum markers and two biophysical markers can provide a useful means for early pregnancy (11-13 weeks) screening for pre-eclampsia. With such screening, aspirin can be effective in preventing pre-eclampsia if taken early enough.

9:35 Transcriptomic Clock during Pregnancy

Thuy_NgoThuy Ngo, Ph.D., Department of Bioengineering, Stanford University (Stephen Quake’s Lab)

Investigating and tracking the changes of the transcriptome during the course of pregnancy can help in the identification of abnormalities or adverse states readily. We have used next generation sequencing and quantitative PCR (qPCR) to analyze cell-free RNA in plasma from pregnant women at various time points across gestation. Differential expression analysis of cell-free RNA sequencing revealed distinct longitudinal patterns for several groups of genes modulated in pregnancy. These include immune modulation genes, placenta specific genes which we further monitored at high time resolution by qPCR measurements along with fetal specific genes from plasma collected weekly during pregnancy. Our results demonstrate that cell-free RNA can be used for noninvasive monitoring of both maternal responses and fetal development during pregnancy.

10:05 Genomic Signatures Associated with Spontaneous Preterm Birth

Iya Khalil, Ph.D., Executive Vice President and Co-Founder, GNS Healthcare

Molecular markers associated with spontaneous premature birth (<37 weeks gestation) have been difficult to identify owing to heterogeneous clinical presentations and a multiplicity of pathways that regulate parturition. We analyzed genetic, molecular, and clinical data of expectant families to identify markers for longitudinal prenatal analysis and risk prediction using a big data machine learning analytics approach. Preterm birth was found to be associated with multiple markers and risk factors, which are potentially useful to predict gestational duration.

10:35 Coffee Break in the Exhibit Hall with Poster Viewing

11:15 Closing Panel: Predicting the Landscape for Prenatal Molecular Diagnostics: The Next Few Years

Mark Evans, M.D., Professor, Obstetrics & Gynecology, Mt. Sinai School of Medicine, and Comprehensive Genetics

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

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

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

12:15 pm Close of Prenatal Molecular Diagnostics Conference

Program Advisors

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


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

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

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For more details on the conference, please contact:

Phillips Kuhl
Cambridge Healthtech Institute
Phone: (+1) 781-972-5410

For partnering and sponsorship information, please contact:

Ilana Quigley
Senior Manager, Business Development
Cambridge Healthtech Institute
Phone: (+1) 781-972-5457

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