Preconference Course Descriptions

Course 1	Course 5
Course 2	Course 6
Course 3	Course 7
Course 4	Course 8

COURSE 1: Array in prenatal diagnosis

Organizers: Brigitte Faas and Vincenzo Cirigliano

Speakers

Lisa Shaffer, Signature Genomic Laboratories, PerkinElmer (United States)

Ignatia Van den Veyver, Baylor College of Medicine (United States)

Joris Vermeesch, Katholieke Universiteit Leuven (Belgium)

Brigitte Faas, Radboud University Nijmegen (Netherlands)

In this basic course, principles of the different platforms for array analysis will be explained (e.g., arrayCGH vs SNP array, targeted vs nontargeted array analysis). Furthermore, topics such as interpretation of results with use of different databases, categorization of Copy Number Variants, implementation of array analysis in prenatal diagnosis and array analysis in PGD will be covered.

Course Outline

Basic principles of microarrays analysis in prenatal diagnosis, Lisa Shaffer
Interpretation of chromosomal microarray analysis for prenatal diagnosis: What do the results mean? Ignatia Van den Veyver
Practical issues in prenatal application of arrays, Lisa Shaffer
Array CGH: Prenatal Experience, Lisa Shaffer
SNP array analysis: Its prenatal use in practice, Brigitte Faas
Use of arrays for products of conception and still birth, Ignatia Van den Veyver
Array analysis and external quality assurance, Joris Vermeesch
Array and PGD, Joris Vermeesch

COURSE 2: Ultrasound on genetic syndromes (non-trisomy 21)

Course organizers: Anthony Odibo and Antoni Borrell

Speakers

Simona Cicero (United Kingdom)

Mark Evans, Comprehensive Genetics (United States)

David Chitayat, Mount Sinai Hospital, University of Toronto (Canada)

TH Bui, Karolinska Institutet (Sweden)

Antoni Borrell, Hospital Clinic University of Barcelona (Spain)

Fetal ultrasound is now able to detect most of the structural and chromosomal anomalies, but single-gene syndromes are still not well identified prenatally. This course will deal with prenatal dysmorphology of some groups of genetic syndromes.

Course Outline

Genetic syndromes and limb reduction deformities, Simona Cicero
Overgrowth syndromes, Mark Evans
Prenatally detected genital abnormalities, David Chitayat
Genetic syndromes in non-immune hydrops fetalis, TH Bui
Increased nuchal translucency and genetic syndromes, Antoni Borrell

COURSE 3: Prediction of adverse OB events due to abnormal placental implantation

Course organizers: Howard Cuckle, Peter Benn, Peter Schielen, Tak Yeung Leung

Speakers

Harvey Kliman, Yale University (United States)

Cathy Downing, Fetal Medicine Foundation USA (United States)

Wendy Koster, UMC Utrecht (Netherlands)

Ranjit Akolekar, King's College Hospital (United Kingdom)

Emmanuel Bujold, Universite Laval (Canada)

This practical course will provide knowledge on how to screen for pre-eclampsia and growth restriction using history, ultrasound and biochemistry.

Course Outline

From Trophoblast to Placenta: Role in Normal and Preeclamptic Pregnancies, Harvey Kliman
Prediction of PET/IUGR by ultrasonic methods, Cathy Downing
Prediction of PET/IUGR by existing and new serum markers, Wendy Koster
Risk calculation, Ranjit Akolekar
Prevention of PET/IUGR: Aspirin and alternatives, Emmanuel Bujold

COURSE 4: Legal and public policy aspects of prenatal genetic diagnosis

Course organizer: Deborah Pergament

Speakers

Jessica Berg, Case Western Reserve University, Schools of Law and Medicine (United States)

Dorothy Roberts, Northwestern University School of Law (United States)

Deborah Pergament, Children's Law Group and DePaul University College of Law (United States)

This is a basic course for all interested in the legal aspects of prenatal diagnosis. Among the questions explored include the following: How is PGD regulated, and what legal constraints are placed on its use? Should public policy provide greater access to prenatal diagnosis to people who are socially disadvantaged? Should we be concerned about policies that coerce socially disadvantaged people to use prenatal diagnosis? What are the ethical, legal and social issues raised by the use of the internet in the provision of prenatal genetic diagnosis?

Course Outline

Testing the baby and the bathwater: Prenatal genetic diagnosis and the law, Jessica Berg
The social context of prenatal diagnosis: The impact of race, gender and wealth, Dorothy Roberts
Prenatal genetic clinical services in the internet age, Deborah Pergament

COURSE 5: Counseling dilemmas for CMA, ART and PGD

Course organizers: Patricia Devers, MS, CGC, Melissa Savage, MS, CGC

Speakers

Orsetta Zuffardi, Università degli Studi di Pavia (Italy)

Melissa Savage, Natera (United States)

Conny van Ravenswaaij-Arts, University Medical Centre Groningen (Netherlands)

Debra Lilienthal, Weill Cornell Medical College (United States)

This session is a basic course for health care professionals who provide pre- or post-test counseling to families regarding the use of chromosomal microarray analysis (CMA) in the prenatal setting or assisted reproductive technologies (ART) and preimplantation genetic diagnosis (PGD) in the preconception setting. We will discuss the counseling topics that should be reviewed with all patients considering microarray analysis, ART and/or PGD. Counseling dilemmas that arise during these sessions will be examined along with examples of specific difficult scenarios that the presenters have encountered. Available resources will be described and current guidelines will be reviewed.

Course Outline

Introduction to the use of microarray testing in the prenatal setting, Orsetta Zuffardi
Introduction to counseling for CMA in the prenatal setting: The basic pre- and post-test CMA counseling session, Melissa Savage

Counseling dilemmas: CMA in the prenatal setting
Variant of uncertain significance, Melissa Savage and Orsetta Zuffardi
Reduced penetrance/variable expressivity, Melissa Savage
Consanguinity, Conny van Ravenswaaij-Arts
Non-paternity, Conny van Ravenswaaij-Arts
Detection of carrier status, Conny van Ravenswaaij-Arts
Incidental detection of parent or fetus affected with an adult onset condition, Melissa Savage
Introduction to counseling for ART and PGD in the preconception setting, Debra Lilienthal
Counseling dilemmas: ART and PGD, Debra Lilienthal
Questions and Answers, Panel discussion moderated by Patricia Devers

COURSE 6: Monochorionic multiples: More than just TTTS, indications and techniques for fetal therapy

Course organizers: Dick Oepkes and Roland Devlieger

Speakers

Lu Ming Sun, Shanghai First Maternity and Infant Hospital (China)

Ruben Quintero, University of Miami (United States)

Anthony Johnson, University of Texas, The Texas Fetal Center (United States)

Eftichia V. Kontopoulos, University of Miami Miller Medical School (United States)

Dick Oepkes, Leiden University Medical Centre (Netherlands)

Roland Devlieger, University Hospital Leuven (Belgium)

This interactive update of the state-of-the-art is an excellent opportunity for clinicians involved in the care of complicated monochorionic twins to discuss controversial issues with experts in the field. Concise overviews with ample time for discussion, followed by panel-and audience discussion on what to expect in this field in the near future.

Course Outline

MC twins with selective IUGR
- Diagnosis and outcome, Lu Ming Sun
- Management, Ruben Quintero
Twin reversed arterial perfusion (TRAP) sequence: When and how to intervene? Anthony Johnson
Twin anemia polycythemia sequence (TAPS): Diagnosis and management options, Dick Oepkes
Management of Discordant Anomalous Monochorionic Twins, Eftichia V. Kontopoulos
MC twins with stage V TTTS: Management and outcome, Roland Devlieger
Complex cases from participants' experiences, Panel discussion

COURSE 7: Introduction to prenatal screening: Statistical and quality control issues

Course organizers: Peter Benn, Tak Yeung Leung, Peter Schielen

Speakers

Howard Cuckle, Columbia University Medical Center (United States)

Kevin Spencer, Barking, Havering & Redbridge University Hospitals (United Kingdom)

Cathy Downing, Fetal Medicine Foundation USA (United States)

Peter Benn, University of Connecticut Heath Center (United States)

Glenn Palomaki, Women and Infants Hospital (United States)

Mark Evans, Comprehensive Genetics (United States)

This is a basic introduction to maternal screening with an emphasis on screening for Down syndrome and other fetal aneuploidy. No prior knowledge or experience is necessary. Based on past experience, those currently involved in screening (clinicians, lab directors, counselors, etc) will also find this session of value.

Course Outline

Measuring the performance of a screening test: Sensitivity, specificity and predictive value, Howard Cuckle
Risk estimation: Gaussian approach, odds and likelihood ratios, Kevin Spencer
Risk estimation: Logistic regression, Glenn Palomaki
Monitoring the quality of ultrasound performance: External evaluation, Howard Cuckle and Cathy Downing
Internal lab QC/QA, Peter Benn
External QA for laboratories, Glenn Palomaki
Error in NT and biochemical measurement: Impact on risk estimation, sensitivity and specificity, Mark Evans

COURSE 8: Basic course on next generation sequencing

Course organizers: Brigitte Faas and Vincenzo Cirigliano

Speakers

Madhuri Hegde, Emory University School of Medicine (United States)

Helger Yntema, Radboud University Nijmegen Medical Centre (Netherlands)

Rossa Chiu, The Chinese University of Hong Kong (Hong Kong)

In this basic course, principles of next generation sequencing (NGS) will be explained. Also the implementation of NGS in postnatal diagnosis, including the (ethical) dilemmas and the informed consent issue, will be discussed. Finally, the use of the NGS technique in noninvasive prenatal diagnosis will be illustrated.

Course Outline

Basic principles of NGS, Madhuri Hegde
Implementation of NGS in postnatal diagnosis: Analysis, counseling, ethical issues, informed consent, Helger Yntema
NGS in NIPD, Rossa Chiu