Speaker BIO:
1987 - 1993
Catholic University Nijmegen, The Netherlands
Student: biology, specialism: medical biology
November 1993 – August 1997
PhD thesis: “Rhesus blood group antigens: from postnatal phenotyping to prenatal genotyping”. (defense: January 9, 1998).
Carried out at the Department of Experimental Immunohematology, CLB (now: Sanguin), Amsterdam, The Netherlands (funded by a grand from Praeventiefonds). Supervisor: prof dr CE van der Schoot.
September 1997 - September 1998:
Postdoc at the department of Experimental Immunohematology, CLB, Amsterdam, The Netherlands.
Supervisor: prof dr CE van der Schoot.
September 1998 – June 2000:
Trainee Laboratory Specialist Clinical Genetics at the department of Cytogenetics, Division of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
June 2000 – October 2002:
Laboratory Specialist Clinical Genetics trainee at the department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
October 2002 – present:
Laboratory Specialist Clinical Genetics, registered according to the Dutch rules for laboratory specialists. Mainly specialized in prenatal diagnosis, but also sufficiently experienced in postnatal diagnostics. Expertise in all different molecular and cytogenetic laboratory techniques, such as karyotyping, MLPA, QFPCR, array analysis and NIPT.
Overview
High resolution array analysis has been introduced in the field of prenatal diagnosis, especially for pregnancies with fetuses at risk for a chromosomal aberration based on ultrasound findings. Results obtained with array analysis can range from normal to clearly pathogenic and explaining the ultrasound anomalies. This presentation, however, will focus on results of which the clinical significance is unclear or uncertain.
