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Building upon the very successful inaugural meeting in Boston, Cambridge Healthtech Institute’s Prenatal Molecular Diagnostics Europe conference aims to take an in-depth look at the current trends and guidelines in Europe for prenatal molecular diagnostics, while providing perspectives on how this rapidly changing field is likely to develop in Europe over the next several years. In addition to the technical issues there are a number of other factors, including geographic differences, coverage of diagnostic tests from one country to another, challenges of clinical implementation of new procedures, and the increased need for genetic counseling perspectives, that need to be understood in order to forecast how this field is likely to develop in Europe.

Topics include:

  • Clinical validation and comparisons of cytogenetic results to karyotyping
  • Comparisons of different sequenced-based cell-free DNA diagnostics
  • Challenges with fetal cell isolation and analysis
  • Practical clinical perspective of changes with prenatal diagnostics
  • Experiences and concerns related to genetic counseling in a prenatal setting
  • Outlook for future technical advances in prenatal molecular diagnostics

Program Advisors:

Marta Rodriguezde 

Marta Rodríguez de Alba, Ph.D.
Genetics Department,
Fundacion Jimenez Diaz (Spain)

Philippos Patsalis 

Philippos Patsalis, Ph.D.,
Chief Executive Medical Director,
The Cyprus Institute of Neurology & Genetics (Cyprus)

 Brigitte Faas 

Brigitte Faas, Ph.D.,
Department of Human Genetics,
Radboud University Nijmegen Medical Center (Netherlands)

Final Agenda

Day 1 | Day 2 | Download Brochure 

Monday 12 May


8:00 Registration and Morning Coffee

The Current Landscape and Issues for Prenatal Diagnostics 

9:00 Chair’s Opening Remarks

Brigitte Faas, Ph.D., Department of Human Genetics, Radboud University Nijmegen Medical Center (Netherlands)

9:05 Current Status, Issues and Challenges for Molecular Analysis of Invasively Obtained Prenatal Samples

Marta Rodríguez de Alba, Ph.D., Department of Genetics, Fundacion Jimenez Diaz (Spain)

The incorporation of the molecular analysis of invasively obtained prenatal samples has been very different depending on the technology. QF-PCR replaced with great success the FISH analysis for rapid aneuploidy diagnosis. Array technology, however, started in a timid way but it is being incorporated in the last couple of years in an exponential way. Although it does not give an answer to every question, it is starting to be an essential tool for the diagnosis of malformed fetuses. Nevertheless, the routine incorporation may differ between different countries because it may not be covered by the National Health Care Systems.

9:35 NIPT Advances, Limitations and Future Directions

Michael Hadjidaniel, Ph.D., Acting Head of the Translational Genetics Team, Cyprus Institute of Neurology and Genetics (Cyprus)

Non-Invasive Prenatal Diagnosis (NIPD) has been one of the most fascinating fields during the last decade and is rapidly evolving. The methodological approaches that have been presented and demonstrated a proof-of-concept for the NIPD, such as DNA methylation using sodium bisulphite, fetal-specific mRNAs, Methylation DNA Immunoprecipitation (MeDIP), real-time qPCR and Next-Generation Sequencing-based methodologies, will be presented. Non-Invasive Prenatal Testing (NIPT) using the above methodologies has currently several advantages and limitations. Future NIPT directions in this field aim to develop and validate safe, cost-effective, fast, simple and accurate methods for aneuploidies and pathogenic copy number changes and mutations. Such NIPT will comfort all pregnant women from the stressful decision associated with invasive prenatal diagnostic procedures.

10:05 Change of Mind: Advances in Technology Call for Personalized Prenatal Testing

Isabel Filges, M.D., Clinical Geneticist and Lab Director, Department of Medical Genetics, University Hospital Basel (Switzerland)

Chromosomal microarrays have largely replaced microscopic chromosome analysis for various postnatal clinical indications and are on the verge of replacing fetal karyotyping as well. In parallel, non-invasive testing approaches have gained importance. So far, prenatal diagnosis has been a rather standardized procedure, but the novel technologies – including advances in (first trimester) ultrasound - now put pressure on prenatal professionals to personalize the diagnostic approaches. The changing landscape of various available testing options, including their sequential application in light of the prenatal clinical indications, will be presented. The challenges for patient counseling, but also medical practices of prenatal professionals in clinics and laboratories will also be discussed.

10:35 Coffee Break

Array-based cytogenetics for invasively-obtained samples 

10:55 Chair’s Remarks

Marta Rodríguez de Alba, Ph.D., Genetics Department, Fundacion Jimenez Diaz (Spain)

11:00 From Conventional to Molecular Karyotyping in a Diagnostic Laboratory – Challenges and Dilemmas

Isabel Marques Carreira, Ph.D., Head, Cytogenetics and Genomics Laboratory, Medical University of Coimbra (Portugal)

Conventional cytogenetics has been the golden standard in prenatal diagnosis. The advent of molecular technologies such as array-CGH has led to a new era not only on the capacity of diagnosis but mainly in the challenge of interpretation of the results. Is a Copy Number Variant, for example, always a sign of disorder? When should familial studies be performed? These and many other are the questions daily presented in a clinical genetic laboratory set up dedicated to diagnosis.

11:30 Why Genotype Information Matters in Prenatal SNP Array Diagnostics

Nicole deLeeuw, Department of Clinical Genetics, Radboud University Medical Center (Netherlands)

Since 2010, we routinely perform genome-wide SNP array analysis in prenatal diagnosis in case of structural ultrasound anomalies and a normal QF-PCR test result. An overview will be given and various illustrative examples will be shown demonstrating that the genotype information from the SNP probes significantly improves the detection rate, enabling the reliable detection of CNVs, copy neutral changes of homozygosity, and mosaic imbalances in one single test.

12:00 Nature and Prevalence of Pathogenic SNP-Array Findings in Phenotypically Normal and Abnormal Fetuses

Diane Van Opstal, Ph.D., Department of Clinical Genetics, Erasmus Medical Center (Netherlands)

We have performed over 2000 genome-wide SNP-Arrays (HumanCytoSNP-12, Illumina) on uncultured amniotic fluid and chorionic villi samples, initially only in cases of fetal ultrasound anomalies, and since mid-2012 as a first-tier test for all samples in which cytogenetic studies are requested. We will compare the nature and prevalence of pathogenic array results in fetuses with and without ultrasound abnormalities in the light of a classification that we recently have proposed (Srebniak et al 2013 Eur J Hum Genet. 2013 Nov 6. doi: 10.1038/ejhg.2013.254). An overview and some illustrative cases will be presented.

12:30 Luncheon Presentation (Sponsorship Opportunity Available) or Lunch on Your Own

13:45 Prenatal Arrays in the UK – Proposals for a National Approach

Diana Wellesley, M.D., FRCP, Head, Prenatal Genetics, Wessex Clinical Genetics Service, Princess Anne Hospital (United Kingdom)

The diagnostic superiority of aCGH, in the postnatal setting, is now well established and offered as the first line test in most centres. Postnatal experience has also shown us, however, that with the additional diagnoses come less wanted findings, commonly known as Incidental Findings (IF) and Variants of Uncertain Significance (VOUS). In the UK, these issues have delayed the introduction of aCGH, in the prenatal setting, whilst the best way forward is considered. The importance of accuracy, speed and minimal diagnostic uncertainty is recognized, in the knowledge that such results may inform decisions about the outcome of a pregnancy. There is agreement that some tailoring of prenatal aCGH results is appropriate, and that such tailoring is best applied on a national basis but, as yet, no decision has been made on a certain way forward. This is currently under urgent review in the UK. The issues under discussion, and any conclusions drawn, will be presented.

Affymetrix14:15 Why High Density SNP Array is the Way to Go in Prenatal Invasive Testing 

Paula Rendeiro, Laboratory Director, Cytogenetics Laboratory, CGC Genetics

Array CGH is now considered, for many centers worldwide, the first-tier testing for invasive prenatal diagnosis. The old concept of using low density arrays to avoid gray results (as VOUS) must be reviewed. High density arrays provide the capability to detect not only small alterations with major clinical impact, but also accuracy and confidence in the identification of larger alterations. We present examples and advantages of utilizing a high density SNP array in PND. 


14:45 Refreshment Break in the Exhibit Hall with Poster Viewing

Sequencing of Cell-Free DNA 

15:25 Chair’s Remarks

Michael Hadjidaniel, Ph.D., Acting Head of the Translational Genetics Team, Cyprus Institute of Neurology and Genetics (Cyprus)

15:30 The Challenge of Introducing Non-Invasive Prenatal Testing (NIPT) in the Netherlands

Brigitte Faas, Ph.D., Department of Human Genetics, Radboud University Medical Centre (Netherlands)

Offering NIPT to pregnant women with an increased risk for fetal aneuploidies is supported by statements of different societies and indeed, in a number of countries throughout the world women can already choose to have NIPT. However, just as with array analysis, the incorporation in routine prenatal care may differ from country to country, as may the reimbursement by the healthcare systems, which may be private or not. In the Netherlands, prenatal screening, and thus NIPT, is regulated by a government permit, and therefore, for the introduction of NIPT, a nationwide study (TRIDENT) was prepared by all stakeholders. The steps towards obtaining a permit for this study, as well as the study itself, will be discussed.

16:00 A New Era in Prenatal Care: The Implementation of Non-Invasive Prenatal Testing (NIPT) in Switzerland

Olav Lapaire, M.D., Laboratory for Prenatal Medicine, University Women’s Hospital (Switzerland)

We observed a notable increase of prenatal testing after the implementation of NIPT. NIPT is an additional test for women that need more reassurance. Since the options for pregnant women become more complex and the costs of NIPT are high, prenatal counseling has become more challenging.

16:30 Non-Invasive Prenatal Testing: Opportunities and Moral Challenges

Antina de Jong, Ph.D., Senior Advisor for the Dutch Education Council, and Department of Health, Ethics and Society, Maastricht University (Netherlands)

Non-invasive prenatal testing (NIPT) has clear advantages: It can be performed early and is easy and safe. But NIPT also has morally challenging implications. These include the feasibility of autonomous reproductive decision-making, trivialization of testing and abortion, and confusion of testing for fetal anomalies that may lead to abortion and for pregnancy-related problems. If techniques allow for a genome-wide NIPT, this may blur the distinction between pre- and postnatal testing and threaten future children’s rights. Given the increasing application of NIPT in prenatal screening strategies, these ethical issues have to be addressed urgently.

17:00 WISECONDOR: Detection of Fetal Aberrations from Shallow Sequencing Maternal Plasma Based on a Within-Sample Comparison Scheme

Erik Sistermans, Head, Genome Diagnostics, VU University Medical Center (Netherlands)

Since the upswing of next-generation sequencing (NGS), it has become possible to detect trisomy 21, 18 and 13 cases using a maternal blood sample. Detecting smaller aberrations was rather inaccurate using low-coverage NGS data, but was shown possible using high-coverage NGS, which is too expensive for routine practice. We will present a method, WISECONDOR (WIthin-SamplECOpy Number aberration DetectOR), which detects relatively small aberrations using the low-coverage NGS data normally used to detect trisomy 21. WISECONDOR correctly identified all T13, T18 and T21 cases while coverages were as low as 0.15 to 1.66 fold. No false positives were identified. Moreover, WISECONDOR also identified smaller aberrations, down to 20 Mb, such as del(13)(q12.3q14.3), +i(12)(p10) and i(18)(q10). This shows that prevalent fetal copy number aberrations can be detected accurately and affordably by shallow sequencing maternal plasma.

17:30 Non-Invasive Cell-Free DNA-Based Prenatal Detection of Microdeletions Using Single Nucleotide Polymorphism Targeted Sequencing

Peter Benn, Ph.D., Department of Genetics and Developmental Biology, Director, Laboratory Services for Human Genetics Laboratories, University of Connecticut (USA)

Single-nucleotide polymorphism (SNP)-based non-invasive prenatal testing (NIPT) accurately detects fetal monosomy, trisomy, and triploidy. Recently, it has been suggested that NIPT may be capable of identifying smaller microdeletions and duplications. We evaluated the performance of SNP-based technology in detecting submicroscopic abnormalities from cell-free fetal DNA isolated from maternal plasma using the largest validation panel, including actual plasma samples and artificial mixtures, to-date. Additionally, we describe a novel method for validating any deletion syndrome based on artificial plasma DNA mixtures. We found that SNP-based NIPT is effective in screening for specific submicroscopic chromosomal deletions, including the 22q11.2 deletion (DiGeorge syndrome).

18:00 Welcome Reception in the Exhibit Hall with Poster Viewing

19:15 End of Day One

Day 1 | Day 2 | Download Brochure 


Video Presentations

More than 230 delegates from 27 countries convened in Boston in September for CHI’s Advances in Prenatal Molecular Diagnostics conference. Available below are video streams from three presentations.

Prenatal Genetic Diagnosis: Balancing the Options

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

Stream Video 


Prenatal Counseling Issues Regarding CNVs: Clinical Variability and "Incomplete Penetrance"

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

Stream Video 


Thinking about Selecting between Cell-Free and Fetal Cell Analysis, Now and in the Future

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

Stream Video 



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