Challenges in prenatal screening and diagnosis in the Netherlands

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Transcript Challenges in prenatal screening and diagnosis in the Netherlands

Challenges in prenatal screening and diagnosis in the Netherlands
Bakker, Merel
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2017
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Bakker, M. (2017). Challenges in prenatal screening and diagnosis in the Netherlands [Groningen]:
Rijksuniversiteit Groningen
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Download date: 06-02-2017
Challenges in
Prenatal Screening
and Diagnosis
in the Netherlands
Merel Bakker
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Challenges in
Prenatal Screening
and Diagnosis
in the Netherlands
Proefschrift
ter verkrijging van de graad van doctor
aan de Rijksuniversiteit Groningen
op gezag van
de rector magnificus, prof.dr. E. Sterken
en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op
maandag 6 februari 2017 om 14.30 uur.
door
Merel Bakker
geboren op 10 augustus 1981
te Purmerend
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Promotor
Prof. dr. C. M. Bilardo
Copromotor
Dr. E. Birnie
Beoordelingscommissie
Prof. dr. S. A. Scherjon
Prof. dr. A. Ranchor
Prof. dr. I. M. van Langen
Prof. dr. O. B. Petersen
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Voor de Wetenschap
For Science
Per la Scienza
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Colofon
Bakker, M.
Challenges in Prenatal Screening and Diagnosis in the Netherlands
Dissertation University of Groningen
ISBN: 978-90-367-9297-4 (printed version)
ISBN: 978-90-367-9296-7 (electronic version)
© 2016 M. Bakker. All rights reserved. No part of this publication may be reproduced,
stored in a retrieval system, or transmitted in any form or by any means, mechanically,
by photocopying, recording, or otherwise, without the written permission of the author.
Design and lay-out: Niels de Rijk
Idea cover design: Merel Bakker (with premitted use of a photo
made by Steven O’Connor MD, Pathologist Houston, Texas, USA)
Printing: Ipskamp drukkers
This thesis was realized independently of finances from industry.
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Contents
chapter
1
General introduction
2
25
3
37
4
49
5
67
Low uptake of the combined test in the Netherlands – which
factors contribute?
Prenatal Diagnosis 2012 Dec; 32(13): 1305-12
chapter
Intra- and inter-operator reliability of manual and semiautomated
measurement of fetal nuchal translucency: a cross-sectional study
Prenatal Diagnosis 2013 Dec; 33(13): 1264-71
chapter
Total pregnancy loss after chorionic villus sampling and amniocentesis in the Netherlands: a cohort study
Ultrasound Obstetrics & Gynecology. 2016 Jun 3. doi: 10.1002/uog.15986. [Epub ahead of print]
chapter
Increased nuchal translucency with normal karyotype and
anomaly scan: what next?
Best Practice & Research Clinical Obstetrics & Gynaecology 2014 Apr; 28(3): 355-66.
chapter 6
Targeted ultrasound examination and DNA testing for Noonan
syndrome, in fetuses with increased nuchal translucency and
normal karyotype
Prenatal Diagnosis 2011 Sep; 31(9): 833-40
chapter
11
83
7
97
chapter
8
109
chapter
9
Prenasal thickness, prefrontal space ratio and other facial profile
markers in first trimester fetuses with aneuploidies, cleft palate
and micrognathia
Fetal Diagnosis & Therapy, 2016 Nov 18. [Epub ahead of print]
chapter
Is 3D technique superior to 2D in Down syndrome screening?
Evaluation of six second and third trimester fetal profile markers
Prenatal Diagnosis 2015 Mar; 35(3): 207-13.
General discussion and future perspectives
123
chapter 10
English summary
Dutch summary
136
138
Appendix
Abstracts
List of Publications
Research Institute SHARE
Curriculum Vitae
Dankwoord
142
147
149
151
152
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