Preconference Courses

Sunday, 9 July 2017

Course details are subject to change.
 

09:00 - 13:00


Course 1 - Genomic technologies 101 for non-geneticists
Chairs: Francesca Romana Grati and Sylvie Langlois

Outline: This is a basic course meant to teach the participants the principles of the current genetic tests in use in the clinic including microarray analysis, next generation sequencing for gene panels or whole exome as well as Non invasive prenatal testing for chromosomal abnormalities. Basic technical aspects, clinical indications, as well as limitations of each technologies will be reviewed. Clinical cases will be used as examples.

  1. Basic concepts: chromosomal, monogenic, and imprinting disorders. Yuval Yaron (Israel)
  2. Rapid aneuploidy testing on invasively obtained samples: how they work and what they offer. Francesca Romana Grati (Italy)
  3. Microarray analysis: how does it work, how is it better than a karyotype and what does it uncover. Sylvie Langlois (Canada)
  4. Non invasive prenatal testing by cfDNA: a review of different approaches (targeted, shotgun and SNP-counting approaches), their clinical utility and limitations. Francesca Romana Grati (Italy)
  5. Next generation sequencing: from basic concept to discussion of gene panels and clinical exomes. Igna Van den Veyver (USA)
  6. Wrap up with case presentations.

Course 2 - Ethical challenges in prenatal genetic counselling: A case-based approach

Chairs: Wybo Dondorp and Judy Jackson

Outline: The course will consist of an introductory lecture by an ethicist and three case-driven topic discussions with comments first by a counselor and then by an ethicist, followed by discussion and debate with participants.

TOPIC 1: "Dealing with uncertainty" (e.g., after nuchal translucency or microarray findings)
From a counseling perspective: Judy Jackson (USA)
From an ethics perspective Samantha Leonard (USA)

Educational objectives: Together, the two lectures on this topic will enable professionals to:

  • Clarify the ethical relevance of different kinds of uncertainty arising in prenatal genetic counseling
  • Critically apply core ethical concepts to selected vignettes about counseling for decision-making under conditions of uncertainty
  • Undertake the same critical application in relation to their own counseling practice
  • Increase their confidence in facilitating pregnant women/couples to reason around ethical aspects of decision-making under uncertainty


TOPIC 2: "Speaking with prospective parents about health, disability and impairment"
From a counseling perspective: Charlotta Ingvoldstad (Sweden)
From an ethics perspective: Jackie Leach Scully (UK)

Educational objectives: Together, the two lectures on this topic will enable professionals to:

  • Clarify the ethical relevance of different ways of framing health, disability and impairment
  • Critically apply core ethical concepts to selected vignettes about speaking with prospective parents about disability and abnormality
  • Undertake the same critical application in relation to their own counseling practice
  • Increase their confidence in facilitating pregnant women/couples to reason around ethical aspects of prenatal decision-making related to the prospect of disability


TOPIC 3: "What is serious?"
From a counseling perspective: Judy Jackson (USA)
From an ethics perspective: Megan Allyse (USA)

Educational objectives: Together, the two lectures on this topic will enable professionals to:

  • Clarify the ethical relevance of different perspectives on seriousness, including when such perspectives may diverge
  • Critically apply core ethical concepts to selected vignettes about dealing with decision-making about what may be considered relatively mild conditions
  • Undertake the same critical application in relation to their own counseling practice
  • Increase their confidence in facilitating pregnant women/couples to reason around ethical aspects of prenatal decision-making when considerations of "seriousness" arise

 

Course 3 - Fetal therapy update
Chairs: Ramen Chmait and Rodrigo Ruano

  1. Fetoscopic Treatment of MMC - Update. Michael Belfort (USA)
  2. Prenatal less invasive therapy for fetal tumors. Greg Ryan (Canada)
  3. Fetal therapy for CDH - Update. Roland Devlieger (Belgium)
  4. LUTO: Prenatal Staging System based on Fetal Renal Function. Rodrigo Ruano (USA)
  5. Controversies of Complicated Monochorionic Twin Pregnancies. Ramen Chmait (USA)

14:00 - 18:00


Course 4 - Extending the prenatal diagnosis of monogenic disorders: What we can do, what we will be able to do and dealing with the counseling challenges
Chair: Lyn Chitty

  1. Developing a prenatal diagnostic service for monogenic disorders using cfDNA. Lucy Jenkins (UK)
  2. Prenatal screening for new dominant mutations using cfDNA. Igna Van den Veyver (USA)
  3. Arrays or exome sequencing for the diagnosis of fetal abnormalities. Brynn Levy (USA)
  4. Delivering quality assurance for the prenatal diagnosis of monogenic disorders. Sandi Deans (UK)
  5. Prenatal counseling in the era of modern molecular technologies. Lyn Chitty (UK)
  6. Presentation and discussion of the ISPD statement on prenatal exome sequencing. Doug Wilson (Canada)

Course 5 - Ultrasound to enhance genetic diagnoses

Cosponsored by ISUOG

ISPD Chair: Yair Blumenfeld
ISUOG Chair: Magda Sanz-Cortez
  1. NIPT: What does the first trimester ultrasound scan tell us that we don't already know? Lawrence D Platt (USA)
  2. How to perform a detailed fetal cardiac exam (including live scan demonstration). Greggory DeVore (USA)
  3. How to perform a detailed 2D and 3D fetal neurosonogram (including live scan). Magda Sanz-Cortez (USA)
  4. Fetal skeletal survey and imaging-based prenatal algorithms. Deborah Krakow (USA)
  5. Targeted genetic testing for fetal anomalies. Louanne Hudgins (USA)