Special Non-Invasive Advances in Fetal and Neonatal Evaluation

1
Special Non-Invasive Advances in Fetal and
Neonatal Evaluation Network of
Excellence Project Number LSHB-CT-2004-503243

2
Traditional Prenatal DiagnosisChromosome
Disorders

• Increased maternal age
• Carrier of a structural rearrangement
• Previous chromosome anomaly
• Family history
• Abnormal ultrasound scan or serum test results

Warning Signs
3
Traditional Prenatal DiagnosisInvasive
Procedures
Amniotic fluid AmniocentesisChorionic villi
Fetal blood

• Karyotyping- timeconsuming labour-
• intensive
• FISH
• QF-PCR/MLPA
• Microarrays

4
(No Transcript)
5
Mission statement

• Implement routine non-invasive prenatal diagnosis
  and cost effective neonatal screening through the
  creation of long-term partnerships.

6
SAFE Structure
International Experts
Advisory Board
7 WP leaders Integration SoE
PM
Steering Committee
Integration
Scientific WPs
Social Sciences WPs
WP1
WP5
Socio-economics
WP2
WP6
SoE
WP3
WP7
WP4
7
Key ObjectivesBiomedical Science

• Social Science
• Integrated Research
• Pshyco-social aspects of new technologies
• Ethics
• Socio-economics
• Implementation
• Spreading of Excellence

• Science
• Integration/Unite leading European groups
• Co-ordinate research/Exploit novel tools/ Explore
  future technologies
• Standardise protocols
• Spreading of Excellence

8
WP 1 Fetal Cells
WP Leader Sinuhe Hahn Basel, Switzerland
New Antibodies ISET cell size /
trophoblasts Telomere length
9
WP 2 Automation
WP Leader William Clocksin Oxford, UK
Automatic computer-based cell identification Eval
uation existing scanning technology
SMEs Metasystems Chemscan PALM-laser
IMSTAR Algorithm Resource Centre (ARC)

10
WP 3 Nucleic Acids
WP Leaders Neil Avent / Ellen van der Schoot
Bristol, UK
Amsterdam, NL
Free fetal DNA DNA extraction procedures
RHD/SRY/DYS14 ff DNA
Fragmentation/Microfluidics
Epigenetics Free Fetal RNA/Transcriptomics/Proteo
mics Placental Biology Placental perfusion
model Aptamers/Mabs to STBM-specific
markers STBM proteomics/transcriptomics
11
WP 4 New Technology
WP Leader Ciara OSullivan Tarragona, Spain
Aptamers RNAs that recognise e.g
Trophoblasts/ erythroblast-specific
proteins Microfluidics Microsystem
Capillary Electrophoresis New Technology
Resource Centre (NTRC)
12
WP 5 Psychosocial Evaluation
WP Leader Lucia Savadori Trento, Italy

• Physicians
• making probability information meaningful to
  patients
• strategy for patient communication
• Pregnant women and their spouses/partners
• decisions on test selection
• understanding medical messages on
  probability
• Web-based training programme

13
WP 6 Socio-economics
WP Leader Ala Szczepura Coventry, UK
NIPD RhD implementation Questionnaire
(Delphi) analysis Literature review
Interviews - key stakeholders in partner
countries Internet Forum Economic
Modelling Simulation Tool for Policy
makers Socio-economic evaluation protocols for
any new non-invasive prenatal testing strategies
for fetal RhD blood group status and other
upcoming technologies
14
Socio-economics within the context of SAFE

• We examine socio-economic and health policy
  issues associated with the scientific advances
• We help guide the direction of the scientific
  research into clinical practice

Clinical Practice
Science
New technologies
15
Prenatal Diagnostics
Genetic Counselling
Routine Tests
Specific Tests
New Technologies
Home-testing
Physician
Laboratory
16
HTA
HTA is a systematic process by which the direct
and indirect consequences of a particular
technology are assessed evaluating the safety
clinical/technical effectiveness,
cost-effectiveness, social, ethical and legal
impact of technology
Health Technology Assessment policy making
imperative

HTA is an essential bridge between basic
research and the development and prudent
application of health technology
Assessment Tools Data collection/analysis/eval
uation, Statistical studies, cost analysis,
expert opinion, group analysis Interviews,
surveys, literature review, Clinical Trials,
Etc.
17

Will SAFE technologies make it?

• Not all technologies have potential to succeed in
  the market
• Optimistic ideas of scientists and clinicians as
  clinical implementation is concerned can be
  greatly overestimated

Budgets are Limited!
Technologies are NOT!
18
WP 7 Ethical aspects
WP Leader Theresa Marteau London, UK
Develop ways of facilitating informed
choices Attitudes and practices - fetal
sexing in Europe - impact of NIPD for sex
selection
19
Integration and Spreading of Excellence

• Exchange of
• Personnel
• Samples
• Reagents
• Techniques
• Joint Research Program
• Workshops, Conferences
• Publications

20
Discussion

• Do you think technologies developed by SAFE will
  be acceptable for policymakers and clinicians?
• What factors may contribute to the success of
  these technologies?

21
For further information on the project please
feel free to contact Professor Maj Hulten in
Biological Sciences. M.Hulten_at_warwick.ac.uk and
visit our website at www.safenoe.org