Pre-Congress course: Prenatal screening and diagnosis of ... - isuog

Pre-Congress course: Prenatal screening and diagnosis of aneuploidyThe most significant changes in aneuploidy screening in recent years have involved thedevelopment of novel genetic technologies. Microarrays are used to define genetic anomaliesafter amniocentesis and have a greater degree of resolution than standard cytogenetic tests;non-invasive prenatal testing offers a highly sensitive means of screening for Down syndrome,allowing women to avoid amniocentesis – but does not detect the same range of aneuploidy asthat seen with a standard cytogenetic test.We need to define the place of these technologies in the screening paradigm. We also need toevaluate the role of current screening techniques and whether these need to change toaccommodate the new technologies.This course will:Review current implementation of ultrasound in screening for Down syndrome.Describe the advantages and limitations of novel molecular tools for prenatal screeningand diagnosis.Define indications for these tools – based on current ultrasound screening protocols.Describe ways in which ultrasound screening can adapt to the changing environment ofmolecular based testing.

11.30 – 11.50 aCGH array for “routine” fetal karyotyping: clinical experience11.50 – 12.00 Discussion12.00 – 13.00 LunchForget the trees, concentrate on the wood: non-invasive prenatal testing13.00 – 13.20 Sequencing for NIPT: techniques, technologies, applications andlimitations13.20 – 13.40 Non-invasive testing: a summary of test efficacy13.40 – 14.00 Limited karyotyping: what we will miss14.00 – 14.20 Combined first trimester biochemistry, NIPT or both?14.20 – 14.40 Discussion14.40 – 15.10 Coffee breakAdjusting to the new clinical paradigm15.10– 15.30 First trimester screening for neural tube defects15.30 – 15.50 Screening for adverse pregnancy outcomes at 12 weeks15.50 – 16.10 Diagnosing cardiac defects at 12 weeks: tips and tricks for thesonographer16.10 – 16.30 Back to markers: non-invasive testing or arrays after a positive 20 weekanomaly scan?16.30 – 16.40 Discussion