sonographic assessment of normal and abnormal fetal development

182 Pages·2012·5.4 MB·English

SONOGRAPHIC ASSESSMENT OF NORMAL AND
ABNORMAL FETAL DEVELOPMENT;
EARLY AND LATE ASPECTS
The work presented in this thesis was performed at the department of Obstetrics
and Gynecology, University Hospital Rotterdam-Dijkzigt, Erasmus University
Rotterdam, The Netherlands.
Printing of this thesis was financially supported by:
'Anna Fonds' te Leiden, ATL Nederland BV A Philips Company, J.E. Jurriaanse
Stichting, afdeling Klinische Genetica Rotterdam, Stichting Klinische Genetica
regia Rotterdam, S.P. den Hollander and A.C. Kramer-Verburg
Tekeningen omslag: K.J. Bik
Uitgeverij Eburon
Postbus 2867
260 1 CW Delft
Tel: [phone] I Fax: [phone]
[email protected] I www.eburon.nl
ISBN 90 5166 878 3
© 2001, N.S. den Hollander. All rights reserved. No part of this publication may
be reproduced, stored in retrieval system, or transmitted, in any form or by any
means, electronic, mechanical, photocopying, recording, or otherwise, without
the prior permission from the proprietor(s).
© 2001, N.S. den Hollander. Alle rechten voorbehouden. Niels uit deze uitgave
mag worden verveelvoudigd, opgeslagen in een geautomatiseerd gegevensbe
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mechanisch, door fotokopieen, opnamen, of op enig andere manier, zonder
voorafgaande schriftelijke toestemming van de rechthebbende(n).
SONOGRAPHIC ASSESSMENT OF NORMAL AND
ABNORMAL FETAL DEVELOPMENT;
EARLY AND LATE ASPECTS
Echoscopische heoordeling van de normale en
abnormale foetale ontwikkeling;
vroege en late aspecten
Proefschrift
ter verkrijging van de graad van doctor aan de
Erasmus Universiteit Rotterdam
op gezag van de Rector Magnificus
Prof.dr.ir. J.H. van Bemmel
en volgens het besluit van
het College voor Promoties.
De open bare verdediging zal plaatsvinden op
woensdag 16 januari 2002 om 13.45 uur
door
Nicolette Simone den Hollander
geboren te Wassenaar
PROMOTIECOMJ\1ISSIE
Promotoren: Prof.jhr.dr. J.W. Wladimiroff
Prof.dr. M.F. Niermeijer
Overige !eden: Prof.dr.ir. N. Bom
Prof.dr. M.H. Breuning
Prof.dr. D. Lindhout
Ter nagedachtenis aan rnijn grootvader,
J.H. Kramer:
'AGE QUOD AGIS',
en daarom aan mijn kinderen:
Kasper, Roman en Fenna.

CONTENTS
General Introduction 9
Part one
Sonographic assessment of early normal and abnormal
fetal development ( < 14 weeks)
Chapter 1 Introduction
1.1 Early normal and abnormal fetal sonoanatomy (<14 weeks) 13
1.2 A literature review of early normal and abnormal fetal sono-
anatomy (<14 weeks) 15
1.3 References 18
1.4 Appendix: Various aspects of normal and abnonnal fetal
sonoanatomy; a display of images 22
Chapter 2 Identification of early abnormal fetal sonoanatomy;
its validity and impact
2.1 Introductory remarks 45
2.1.1 Early fetal anomaly scanning in a population at risk of fetal
anomalies. Ultrasound Obstet Gynecol, accepted 46
2.2 Early skeletal pathology 56
2.2.1 Early transvaginal ultrasonographic diagnosis of Beemer
Langer dysplasia: report of two cases.
Ultrasound Obstet Gyneco/1998;11:298-302 58
2.2.2 First trimester diagnosis of Blomstrand lethal
osteochondrodysplasia. Am J Med Genet 1997:73:345-350 67
2.2.3 Appendix to 2.2.2: A frame-shift mutation in the type I
parathyroid hormone (PTH)/PTH-related peptide receptor
causing Blomstrand lethal osteochondrodysplasia.
J Clin Endocrinol Metab 1999;84:3713-3720 75
2.2.4 First trimester diagnosis of Jeune thoracic syndrome.
Ultrasound Obstet Gyneco/2001;18:378-383 92
2.3 Enlarged nuchal translucency 105
2.3.1 In-utero diagnosis of mucopolysaccharidosis type VII in a
fetus with an enlarged nuchal translucency.
Ultrasound Obstet Gynecol2000; 16:87-90 107
Part two
Late fetal anomaly scanning:
second and third trimester of pregnancy
Chapter 3 Late fetal anomaly scanning
3.1 Introductory remarks 117
3.1.1 Prenatally diagnosed fetal ventriculomegaly; prognosis
and outcome. Prenat Diagn 1998;18:557-566 120
3.1.2 Congenital microcephaly detected by prenatal ultrasound:
genetic aspects and clinical significance.
Ultrasound Obstet Gynecol2000; 15:282-287 133
3.1.3 Prenatal diagnosis and confirmation of the Acrofacial
Dysostosis Syndrome type Rodriguez.
Am 1 Med Genet, submitted 146
3.1.4 Prenatal Diagnosis of autosomal dominant brachydactyly
type Al. Ultrasound Obstet Gynecol2001;17:529-530 155
3.1.5 Picture of the month 'Clinomicrodactyly'.
Ultrasound Obstet Gynecol2000;16:204 159
Chapter 4 Concluding remarks 161
Summary 163
Samenvatting 167
List of publications 171
Curriculum vitae 175
Nawoord 177
GENERAL INTRODUCTION
This thesis consists of two parts.
The first part deals with an increasingly important area of first and early
second trimester (<14 weeks) normal and abnmmal fetal sonoanatomy and its
validity and impact in the early diagnosis of fetal anomalies in a high-risk
population.
The second part of the thesis focuses on the clinical genetic aspects of fetal
anomaly scanning with emphasis on the second half of gestation. Single fetal
anomalies diagnosed by ultrasound may be associated with other and often
minor anomalies. which pre- or postnatally may be identified as exogenic or
genetic syndromes with specific recurrence risks. This will have important
implications for genetic counseling.
9