Day 1 :
Sonic Healthcare, Australia
Time : 09:30-10:15 AM
Michael J Sinosich established the Division of Prenatal Testing within Sonic Clinical Institute in 2002. Michael is an internationally respected investigator in early pregnancy well-being. He has published extensively in peer reviewed journals and presented numerous papers at local, national and international forums.
Prenatal screening for assessment of fetal development has been established for almost half a century. Our first trimester screening program includes four (4) biochemical markers: PAPP-A, FhCG, PlGF and AFP. Markers were quantified (DELFIA® DXpress; PerkinElmer) and marker MoM values calculated (LifeCycle v2.2; Perkin Elmer), using lot specific derived polynomial regression curves. Pregnancies with known outcomes included: (1) Aneuploid: Trisomy 21, Trisomy 18, Trisomy 13, Triploid, Sex chromosome aneuploidies, (2) Failed pregnancies, (3) Fetal structure: Anencephaly, Fetal growth restriction, and (4) Maternal Health: Gestational trophoblastic disease, Sub-chorionic bleeding. Reduced circulating PAPP-A level is cause for concern. Low PAPP-A level is associated with aneuploidy (Trisomy/13/18/21, Triploidy) and poor pregnancy prognosis. Similarly, a low FbhCG level is also associated with compromised pregnancy. However, an elevated FbhCG is indicative of Trisomy 21. Excessively elevated FbhCG, even in presence of normal PAPP-A levels, warrants further investigation of trophoblast cell physiology. Elevated levels of fetal derived marker (AFP) may indicate increased transplacental exchange or presence of fetal structural abnormality. Biochemical profile of viable aneuploidies such as, sex chromosome aneuploidies are not distinguishable from profiles of normal pregnancies. However, NT measurements in such pregnancies are markedly increased and may present as a cystic hygroma. PlGF, a marker of placental angiogenesis, levels are reduced in first trimester pregnancies which subsequently develop early onset pre-eclampsia and/or reduced fetal development. Whilst the combination of feto-placental derived biochemistry with ultrasonographic biometry, improves Trisomy 21 detection (to about 92-93%), the inclusion of PlGF has introduced another dimension to screening because now we can simultaneously screen for both fetal and maternal wellbeing. Over the past two decades, non-invasive prenatal screening has progressed from screening for targeted fetal abnormalities to combined prenatal assessment of feto-maternal wellbeing. Each screening modality (biochemistry, ultrasonography, cfDNA) offers benefits only attained in a holistic screening offering.
Sonic Healthcare, Australia
Time : 10:15-11:00 AM
Mark Punyanitya is a Biomedical Engineer with advanced degrees in Applied Physiology and Applied Clinical Trials. He facilitates translation of science, technology and medicine for development and commercialization of medical technologies. He is the Co-Founder, President and CEO of PhenoMx, Inc., focused on commercializing a personalized digital physical examination for precision medicine, personalized wellness and human longevity. He is also the Founder, President and CEO of Image Reading Center, Inc., Imaging Core Laboratory & CRO developing imaging biomarkers for global multi-center clinical trials. With more than 20 years implementing and standardizing medical imaging, he has more than 40 publications to his credit and his advances in imaging have been applied to a wide range of therapeutic areas.
The time has come where imaging biomarkers are gaining acceptance beyond tumor quantification for oncology. This session cover the creation of a Digital Physical Examination to directly measure major vital organs and tissues from a whole body perspective, based on non-invasive imaging for a wide range of conditions and diseases beyond oncology. With increasing focus on genomic, metabolomic and molecular quantification of the human body for use in precision medicine, the development of diagnostics, therapeutics and monitoring of disease progression/treatment takes on a greater role for more effective outcomes. The majority of advances have not included the phenotype or observable characteristics of an individual resulting from the interaction of its genotype with the environment. Biomarkers provide researchers and clinicians with useful measurements that allow for earlier diagnosis before a patient begins to show signs of symptoms and also quantitatively show that a treatment is performing effectively. Technology is now available to measure multiple vital organs and tissues for an integrated exam using non-invasive imaging to acquire data, automation algorithms to quantify images and AI to develop predictive analytics. A Software-as-a-Service platform enables scalable access to the latest imaging technology and support for legacy scanners, while improving accuracy, precision and standardization across imaging facilities.