Basic principles for the non-geneticist


Speaker:

Brigitte Faas,The Netherlands

 

 

Speaker BIO:

faas brigitte1987 - 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

The field of prenatal diagnosis has changed tremendously over the past few years. After karyotyping invasively for many years, Rapid Aneuploidy Detection was introduced , followed by whole genome high resolution array analysis and NonInvasive Prenatal Testing, the latter being carried out on noninvasively obtained material. Moreover, technologies are rapidly advancing and more technological changes are expected in the near future. This presentation will give an overview of the recently introduced molecular tests, with basic principles, advantages and disadvantages.