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University of Groningen

Challenges in prenatal screening and diagnosis in the Netherlands

Bakker, Merel

IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from it. Please check the document version below.

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Publisher's PDF, also known as Version of record

Publication date: 2017

Link to publication in University of Groningen/UMCG research database

Citation for published version (APA):

Bakker, M. (2017). Challenges in prenatal screening and diagnosis in the Netherlands. Rijksuniversiteit Groningen.

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Challenges in

Prenatal Screening

and Diagnosis

in the Netherlands

Merel Bakker

Merel Thesis.indd 3 23-12-16 18:22

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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

Challenges in

Prenatal Screening

and Diagnosis

in the Netherlands

Merel Thesis.indd 5 23-12-16 18:22

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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

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Contents

chapter 1 General introduction

chapter 2 Low uptake of the combined test in the Netherlands – which

factors contribute?

Prenatal Diagnosis 2012 Dec; 32(13): 1305-12

chapter 3 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 4 Total pregnancy loss after chorionic villus sampling and

amnio-centesis in the Netherlands: a cohort study

Ultrasound Obstetrics & Gynecology. 2016 Jun 3. doi: 10.1002/uog.15986. [Epub ahead of print]

chapter 5 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 7 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 8 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.

chapter 9 General discussion and future perspectives chapter 10 English summary

Dutch summary Appendix Abstracts

List of Publications Research Institute SHARE Curriculum Vitae Dankwoord 11 25 37 49 67 83 97 109 123 136 138 142 147 149 151 152 Merel Thesis.indd 9 23-12-16 18:22

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General introduction

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