Overview.

Cell-free DNA (cfDNA) testing, also referred to as Non-invasive prenatal testing (NIPT) has dramatically changed
prenatal care. It allows for highly accurate screening for fetal trisomies as well as other genetic conditions such as 22q11.2 deletion syndrome.

For any kind of fetal cfDNA-based testing, it is reasonable to assume that a minimum amount of fetal cfDNA must be present. This is supported by data demonstrating that the ability to distinguish between fetal trisomy and disomy suffers with decreasing fetal fraction. As a result, the measurement of fetal fraction is now widely recognized as an essential quality metric and supported by multiple guidelines. However not all commercially available cfDNA tests assess fetal fraction which significantly increases the risk of providing a falsely reassuring result.

In this session the importance of fetal fraction as NIPT quality metric as well as its clinical relevance will be discussed. Moreover, data on the accuracy and reproducibility of determining fetal fraction using the Harmony® prenatal test will be presented.

Learning objectives.

• Understanding the importance of measuring, incorporating and reporting fetal fraction in cfDNA testing in the clinical context
• Recognizing the differences in various approaches to cfDNA testing and determination of fetal fraction 

Target audience.

• Obstetricians
• Gynecologists
• Prenatal medicine specialists
• Laboratory Doctors

Presenter.

Maximilian Schmid, MD is Head of Medical Affairs at Roche Sequencing Solutions, where he leads the Medical Affairs efforts across all disease areas including NIPT/Women’s Health and Oncology.

Previously, Dr. Schmid held a position as Associate Professor of Obstetrics and Gynecology at the Medical University of Vienna and served as Consultant Obstetrician and Gynecologist at Vienna General Hospital in Austria. He is board certified in Obstetrics and Gynecology, holds a diploma in Genetics from the Austrian Medical Association, underwent subspecialty training in Maternal-Fetal Medicine at the Royal Women's Hospital in Melbourne, Australia and was a Senior Registrar in Obstetrics and Gynecology at Agha Khan University Hospital Nairobi, Kenya.

Dr. Schmid’s research interests are in fetal medicine and prenatal genetics. His habilitation thesis focused on "New diagnostic methods in prenatal diagnosis".

He has published several articles in renowned peer-reviewed journals and is a regular speaker at international conferences. Prior to his medical career Dr. Schmid worked for McKinsey&Company, a top-management consulting firm, where he solved strategic challenges for leading global pharmaceutical and medical device companies. Privately he is father of two boys, a passionate traveler, has a pilot license for single engine aircraft and enjoys skiing in the Austrian Alps.