Speakers BIO:
Howard Stephen Cuckle
UNIVERSITY EDUCATION:
1968-72 Leeds; 1972-76 Oxford, Balliol College and Wolfson College (Graduate Scholar)
DEGREES:
BA (Class 1) Mathematics & Philosophy, Leeds, 1972; MSc Applied Statistics, Oxford, 1976; DPhil Mathematical Logic, Oxford, 1975
THESES:
Models for intuitionistic logic, Oxford, 1975; Maternal serum AFP in pregnancy, Oxford, 1976
PRESENT APPOINTMENTS:
Visiting Associate Professor, Obstetrics and Gynecology, Faculty of Medicine, Tel Aviv University, Israel; 2013-. Adjunct Professor of Obstetrics and Gynecology, Columbia University Medical Center, New York, USA; 2006- Emeritus Professor, University of Leeds, UK; 2006-
Thomas J. Musci, MD
Dr. Musci is board certified in Maternal‐fetal Medicine and Clinical Genetics. He is a former tenured faculty at the University of California, San Francisco School of Medicine. He has authored numerous publications in basic science, prenatal diagnosis and clinical genetics. Currently, Dr. Musci is the Chief Medical Officer of Ariosa Diagnostics, a company specializing in the development of new technologies for prenatal testing. He has served as chair of the Genetics Committee for the American Congress of Obstetricians and Gynecologists (ACOG), and as a member of the Professional Practice Guidelines Committee for the American College of Medical Genetics (ACMG). He was co‐ founder of San Francisco Perinatal Associates, Inc., and retains an appointment as associate clinical professor with the Department of Obstetrics and Gynecology at University of California, San Francisco (UCSF).
Dick Oepkes
I. Positions and employment
Obstetrician, Head of Fetal Medicine section, Professor, Leiden University Medical Centre, Dept. of Obstetrics
II. Other relevant experience and professional memberships
Prof. Oepkes has been working in the field of prenatal medicine since 1988. He works and conducts research in prenatal screening, prenatal diagnostics, and fetal therapy. Since 2002 he heads the section of prenatal diagnosis in the LUMC. He is the scientific secretary of the Dutch Working group of Prenatal Diagnosis and Therapy, he has occupied the chair of the Regional Center of Prenatal Screening North-South Netherlands, and has been a member of the Dutch Centraal Orgaan of Prenatal Screening, and member of several RIVM committees on prenatal screening. Active member of the International Society for Prenatal Diagnosis (Chairman of Fetal Surgery Special Interest Group), International Fetal Medicine and Surgery Society, Fetoscopy Group. Associate Editor of Prenatal Diagnosis and Fetal Diagnosis & Therapy. Board member of the Dutch Fetal Medicine Foundation. He is co-founder, chairman and an active driving force in the Dutch NIPT consortium.
III. Honors and awards
NIHCD Fellowship Award to join the Perinatal Research Society Banff, Alberta, Canada, September 15-17, 2000
Award for Best Clinical Presentation: ‘Evaluation of simulator-based teaching for invasive perinatal procedures’, 24th Annual Eastern Canada Perinatal Investigators Meeting, Kingston, Ontario November 9-11, 2000
Award for Best Poster Presentation: ‘ Teaching Invasive Perinatal Procedures: Assessment of a High Fidelity Simulator-based Curriculum’. Annual General Meeting of the Association of Professors in Obstetrics and Gynecology. Toronto, Canada December 2, 2000.
Award for Best Fellow Research 2001, Dept. of Obstetrics and Gynaecology, University of Toronto: ‘Teaching Invasive Perinatal Procedures: Assessment of a High Fidelity Simulator-based Curriculum’. 19th Annual Research Day, Toronto, Canada, 11 May 2001
Award of Research Excellence, Society for Maternal Fetal Medicine, for oral presentation of "Minimally Invasive Management of Rh-alloimmunization in Pregnancy: Can Amniotic Fluid
Overview
As primary screening to all patients:
The introduction of non-invasive prenatal testing (NIPT) via cell-free DNA analysis has led to marked increases in the accuracy of screening for Down syndrome and other chromosome conditions compared to standard serum-based screening protocols. Studies have demonstrated sensitivity of >99% and an extremely low FPR (0.1%) for trisomy 21. While early clinical validation studies were focused on enriched patient groups with high risk of aneuploidy, recent studies have demonstrated this same performance in the general screening population. As such, careful consideration is appropriately being given to implementation of this technology both on an individual provider level and as part of a nationwide or public prenatal screening program. Rationale for the offering of NIPT as a first line screening to any woman opting for aneuploidy risk assessment will be discussed.
As contingent screening in very high and intermediate risk patients:
The conventional Combined test has model predicted 85% Down syndrome detection rate for a 5% false-positive rate whilst maternal plasma cell-free (cf)DNA testing has rates of 99.3% and less than 0.14% respectively. However, current costs preclude replacing conventional screening by routine cfDNA screening in public health programs. Contingent cfDNA screening is an affordable compromise protocol restricting cfDNA to those with very high and/or intermediate Combined test risks with or without additional markers. The protocol also helps overcome the relatively high cfDNA test failure rate and retains detection of other disorders (eg NT and cardiac abnormalities) or pregnancy conditions (eg PAPP-A and pre-eclampsia).
