Twining's Textbook of Fetal Abnormalities: Expert Consult: Online and Print, 3e

632 Pages·2014·15.89 MB·English

by  Anne Marie Coady MB ChB BAO MRCP FRCR

Twining’s Textbook of
Fetal Abnormalities
3rd Edition
Twining’s
Textbook of Fetal
Abnormalities
Anne Marie Coady MB ChB BAO MRCP FRCR
Consultant Radiologist, Head of Obstetric and Gynaecological Ultrasound
Ultrasound Department
Hull and East Yorkshire Women and Children’s Hospital
Hull, East Yorkshire, UK
Sarah Bower MBBS MD FRCOG
Consultant in Fetal Medicine Harris Birthright Research Centre for Fetal Medicine
King’s College Hospital NHS Foundation Trust
London, UK
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Notices
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ISBN: 9780702045912
Ebook ISBN: 9780702054075
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Preface
It is hard to believe that the 1st edition of this textbook becoming familiar with the textbook The Safe Use of
was published in 1999 and that 15 years later the 3rd Ultrasound in Medical Diagnosis, edited by Dr Gail ter
edition is being published in the poignant setting of Haar, which is currently in its 3rd edition.
the untimely and unexpected death of Peter Twining We asked our authors to incorporate cutting-edge
in 2009. sections on 3D ultrasound and fetal therapy into their
Those familiar with the first two editions will notice chapters for a more global overview of each subject
many changes in this new edition of the book that is with the emphasis on the relation to everyday practice
undoubtedly one of the authoritative standard text- of fetal diagnostic medicine, rather than having sepa-
books on the sonographic diagnosis of fetal abnor- rate chapters on these topics. This has allowed us to
malities. This is a textbook that most busy modern provide a greater number of superb state of the art
ultrasound departments would not be without, and as images, which it is hoped, will help with both daily
such Twining’s Textbook of Fetal Abnormalities has more practice, and will stimulate and encourage our readers
than fulfilled the initial aims of the 1st edition. to equally high standards of scanning.
The changes made to this seminal textbook reflect Thus this 3rd edition of Twining’s Textbook of Fetal
the rapid advances in the field of fetal diagnostic ultra- Abnormalities succeeds in integrating a strong subspe-
sound necessitating not only a 2nd but a 3rd edition. cialty knowledge base encompassing all aspects of the
These changes emphasize and build on the original field of obstetric ultrasound and perinatal diagnosis
premise of the 1st edition in which the quality and for patient-based clinical care. This volume will be of
number of the ultrasound images in the textbook con- invaluable use to obstetricians, sonographers, paedia-
tributed to its major success and appeal. Peter Twining tricians, geneticists and graduate trainees from all
was an innovator and educator in the field of obstetric these fields.
ultrasound who, as a pioneer in ultrasound imaging, With the great power of every improving ultra-
believed that exacting high standards of scanning were sound technology comes great responsibility, and
critical to clinical practice. because we can scan it is our responsibility to scan to
The wealth and the standard of images that reflects the very best of our knowledge, skill, ability and train-
the extensive collective scanning experience provided ing. We do hope that this textbook reflects the care,
by our international contributors for this textbook thought and discipline required for the practice of fetal
would have delighted Peter. diagnostic ultrasound.
We have been so pleased that the most expert inter- We thank all of our contributors for their wonder-
national authors from across Europe and American ful chapters. We thank all at Elsevier for their help and
have contributed to this edition. Each has shared the support, in particular Poppy Garraway and Julie
elements of their practice that has contributed to our Taylor.
understanding and knowledge of fetal ultrasound and Most importantly we acknowledge all our patients,
we recognize their support and contribution. The con- as it is their need to understand that has driven us to
tinuing advances in fetal physiology, understanding of improve our diagnostic skills, to maintain high stand-
the evolution and natural history of fetal abnormalities ards of practice and to learn continuously.
and the emergence of fetal therapy would not be pos-
sible without the dedication and commitment of the Dr Anne Marie Coady
many ultrasound practitioners who have contributed
Dr Sarah Bower
to the world literature and to this latest edition.
We no longer have a chapter on ultrasound safety
but as editors we stress the importance of reading and
vi
List of Contributors
Maria Agathokleous Anne Marie Coady, MB MRCP (UK) FRCR
Research Fellow in Fetal Maternal Medicine Consultant Radiologist, Head of Obstetric and
Harris Birthright Research Centre Gynaecological Ultrasound
King’s College Hospital Ultrasound Department
London, UK Hull and East Yorkshire Women and Children’s
Hospital
Lindsey D Allan, MD FRCP
Hull, East Yorkshire, UK
Professor of Fetal Cardiology
Harris Birthright Research Centre of Fetal Medicine Luc De Catte, MD PhD
King’s College Hospital Consultant in Maternal and Fetal Medicine
London, UK Department of Obstetrics and Gynecology
University Hospital Leuven
Sarah Bower MBBS MD FRCOG
Department of Development and Regeneration
Consultant in Fetal Medicine Harris Birthright KU Leuven
Research Centre for Fetal Medicine Leuven, Belgium
King’s College Hospital NHS Foundation Trust
London, UK Jan Deprest, MD PhD FRCOG
Consultant in Fetal Medicine and Urogynaecology
Mieke Cannie, MD PhD
Department of Obstetrics and Gynecology
Head of Clinic University Hospital Leuven
Department of Radiology Department of Development and Regeneration
University Hospital Brugmann KU Leuven
Brussels, Belgium Leuven, Belgium
Department of Radiology
UZ Brussel, Vrije Universiteit Brussel Roland Devlieger
Belgium Consultant in Maternal and Fetal Medicine
Department of Obstetrics and Gynecology
Rabih Chaoui, MD
University Hospital Leuven
Professor of Obstetrics and Gynecology Department of Development and Regeneration
Center for Prenatal Diagnosis and Human Genetics KU Leuven
Berlin, Germany Leuven, Belgium
Petya Chaveeva H K Dhillon, FRCS(Ed)
Research Fellow in Fetal Maternal Medicine Perinatal Urologist
Harris Birthright Research Centre Department Of Paediatric Urology
King’s College Hospital Great Ormond Street Hospital for Children
London, UK London, UK
Peter A Farndon, BSc MD FRCP DCH
Consultant Clinical Geneticist
West Midlands Regional Clinical Genetics Service
Birmingham Women’s Hospital
Birmingham, UK
vii
viii List of Contributors
Jacques Jani, MD PhD Liesbeth Lewi, MD PhD
Head of Department Consultant in Maternal and Fetal Medicine
Department of Obstetrics and Gynecology Department of Obstetrics and Gynecology
University Hospital Brugmann University Hospital Leuven
Brussels, Belgium Department of Development and Regeneration
KU Leuven
Phillippe Jeanty
Leuven, Belgium
Chief Fetustician
Inner Vision Women’s Health Raffaele Napolitano, MD
Nashville, TN, USA Postdoctoral Clinical Research Fellow
Nuffield Department of Obstetrics and Gynaecology
Tessa Homfray, FRCP
University of Oxford
Consultant in Medical Genetics Oxford, UK
St George’s University Hospital
London, UK Kypros H Nicolaides, FRCOG
Harris Birthright Unit, Kings College Hospital Professor and Head of Department
London, UK Harris Birthright Research Centre for Fetal Medicine
King’s College Hospital
Katrin Karl, MD
London, UK
Consultant in Fetal Medicine
Center for Prenatal Diagnosis Dick Oepkes, MD PhD
Munich, Germany Professor in Obstetrics and Fetal Therapy
Consultant Maternal-Fetal Medicine
Asma Khalil
Department of Obstetrics
Consultant in Fetal Medicine and Obstetrics Leiden University Medical Centre
Fetal Medicine Unit Leiden, The Netherlands
St George’s Hospital
London, UK Dario Paladini
Associate Professor of Obstetrics and Gynecology
Mark Kilby, DSc MD FRCOG
Head, Fetal Medicine & Surgery Unit
Professor of Fetal Medicine, G.Gaslini Children’s Hospital
School of Clinical & Experimental Medicine and Genoa, Italy
Centre for Women’s & Children’s Health,
University of Birmingham. Pranav P Pandya, BSc MD FRCOG
College of Medical & Dental Sciences, Consultant in Fetal Medicine
University of Birmingham, Department of Obstetrics and Gynaecology
Fetal Medicine Centre, University College London Hospitals
Birmingham Women’s Foundation Trust, London, UK
Birmingham, UK
Aris T Papageorghiou, MD MRCOG
Philipa Kyle, MD FRCOG Reader in Fetal Medicine
Consultant Obstetrician, Subspecialist MFM St George’s University of London and St George’s
Fetal Medicine Unit Hospital London
Guy’s & St Thomas’ NHS Foundation Trust Fetal Medicine Unit
London, UK St George’s University of London
London, UK
Marianne Leruez
Necker-Enfants Malades Hospital
Paris, France
List of Contributors ix
Susana Pereira, MD Natalie Suff
Subspecialty Trainee in Fetal Maternal Medicine Academic Speciality Trainee
Harris Birthright Research Centre University College London
King’s College Hospital London, UK
London, UK
Meekai To, BM BS BMedSci MD
Jeremy W Pryce, MB BS MD Consultant in Fetal Medicine and Obstetrics
GOSH BRC Academic Clinical Lecturer in Paediatric Harris Birthright Centre
Pathology King’s College Hospital
Great Ormond Street Hospital/Institute of Child London, UK
Health, University College London Hospitals
Irina Tsikhanenka, MD PhD
London, UK
Chief of Ultrasound Prenatal Diagnostic Center
Sarah A Russell, MB ChB FRCR Minsk, Belarus
Consultant Radiologist (Retired)
Yves Ville, MD
formerly of
The Fetal Management Unit Professor of Obstetrics and Fetal Medicine
St Mary’s Hospital Department of Obstetrics and Fetal Medicine
Manchester, UK University Paris Descartes, GHU Necker-Enfants
Malades
Srividhya Sankaran, MRCOG Paris, France
Consultant in Maternal-Fetal Medicine
Michael J Weston, MB ChB FRCR MRCP
Department of Women’s Health
Guy’s and St. Thomas’ NHS Foundation Trust Consultant Radiologist
London, UK Ultrasound Department
St James’ University Hospital
Makrina Savvidou, MD MRCOG Leeds, UK
Consultant in Fetal Medicine and Obstetrics
Christina K H Yu, MD MRCOG
Chelsea & Westminster Hospital
Imperial College London Consultant in Obstetrics and Fetal Medicine
London, UK Department of Obstetrics and Gynaecology
St Mary’s Hospital
Neil J Sebire, MB BS BClinSci DRCOG MD FRCPath London, UK
Professor of Paediatric and Developmental Pathology
Vita Zidere, MD FRCP
Great Ormond Street Hospital/Institute of Child
Health, University College London Hospitals Consultant in Paediatric and Fetal Cardiology
London, UK Harris Birthright Research Centre of Fetal Medicine
King’s College Hospital
Tara Selman, PhD MRCOG London, UK
Consultant in Maternal & Fetal Medicine
Birmingham Women’s Foundation Trust,
Birmingham, UK
Dedication
To my mother and father for their unstinting
encouragement always. To my husband Stephen
for all his support patience and wisdom. To my
wonderful sons, Ben, Sam, Nick and Alex for
making every day special and different.
ANNE MARIE COADY
To my husband Jean-Luc for his unwavering
support and my daughter El for always
managing to make me smile.
SARAH BOWER
x
1  First-Trimester Detection of Fetal Anomalies
Chapter 1 
First-Trimester Detection of
Fetal Anomalies
Raffaele Napolitano and Aris T Papageorghiou
Chapter Outline Introduction
Introduction The first trimester of pregnancy is generally consid-
Viability, Multiple Pregnancy and Gestational Age ered to be the first 13 completed weeks. In the past,
Assessment first-trimester ultrasound has mainly been used to
Diagnosis of Fetal Abnormalities confirm fetal viability, establish pregnancy location,
Considerations of Embryological Development count the number of fetuses and assess gestational age
by measurement of fetal crown rump length (CRL). A
First-Trimester Screening for Fetal Abnormalities
major breakthrough in screening for fetal abnormali-
Nuchal Translucency Screening for Fetal 
ties was the finding that fetal nuchal translucency is
Abnormalities
increased in cases of chromosomal abnormalities and
Normal Appearances (Sonoembryology)
other fetal anatomical defects, and this forms the basis
Gestational Sac, Yolk Sac and Fetal Pole
of screening for chromosomal abnormalities in many
Central Nervous System
countries. With further improvements in ultrasound
The Heart
technology it has become increasingly feasible to
Urinary Tract
examine the fetal anatomy in the first trimester. It is
The Abdomen advisable to perform the scan at 11 + 0 to 13 + 6
Extremities weeks’ gestation as this allows confirmation of viabil-
The Face ity, accurate assesment of gestational age and number
Fetal Abnormalities of viable fetuses in addition to evaluation of anatomy
Central Nervous System Anomalies and calculation of risk of aneuploidy.1 There are a
Urinary Tract Abnormalities number of differences and advantages to screening for
abnormalities in the first trimester over the second
Abnormalities of the Gastrointestinal Tract
trimester (Table 1-1). The recently published guide-
Thoracic Abnormalities
lines on the first trimester scan by the International
Skeletal Abnormalities
Society of Obstetrics and Gynaecology lists the struc-
Abnormalities of the Hands and Feet
tures which it should be possible to visualize and
Abnormalities of the Face and Neck
assess in the first-trimester routine screening examina-
References tion.2 (Table 1-2).
Viability, Multiple Pregnancy and
Gestational Age Assessment
About 2.8% of pregnancies will be non-viable at
10–13 weeks of gestation and chromosomal abnor-
malities may be present in 45–70% of these.3
1
2 1  First-Trimester Detection of Fetal Anomalies
TABLE 1-1  Advantages and Disadvantages  TABLE 1-2  Suggested Anatomical 
to Screening for Abnormalities in the First  Assessment at Time of 11 to  
Trimester Over the Second Trimester 13+6-week scan
Disadvantages of Organ/Anatomical Area Present and/or Normal?
Advantages of First- First-Trimester Diagnosis
Head Present
Trimester Scanning of Fetal Anomalies
Cranial bones
Establishing fetal viability Difficulties in technique Midline falx
and excluding early of transvaginal fetal Choroid-plexus-filled
pregnancy complications scanning ventricles
Confirming multiple Inability to detect all Neck Normal appearance
pregnancy and abnormalities due to Nuchal translucency
determining chorionicity the natural history of thickness (if accepted
Accurate dating for some anomalies after informed consent
estimated date of delivery Significance of minor and trained/certified
and as a baseline for both anomalies unclear at operator available)
first- and second-trimester present Face Eyes with lens*
biochemical screening Pitfalls in first-trimester Nasal bone*
Early detection of fetal diagnosis of fetal Normal profile/mandible*
abnormalities anomalies Intact lips*
Termination of pregnancy No pathological Spine Vertebrae (longitudinal and
may be carried out as a confirmation of axial)*
suction curettage diagnosis Intact overlying skin*
Nuchal translucency High spontaneous loss Chest Symmetrical lung fields
measurement for the rate in fetuses with No effusions or masses
detection of chromosomal major abnormalities Heart Cardiac regular activity
disease, and as a marker Four symmetrical
for other syndromes and chambers*
structural abnormalities, Abdomen Stomach present in left
especially cardiac upper quadrant
anomalies Bladder*
Kidneys*
Abdominal wall Normal cord insertion
No umbilical defects
Extremities Four limbs each with three
segments
First-trimester ultrasound is highly accurate in diag- Hands and feet with normal
nosis of non-viable pregnancies, but it is important to orientation*
Placenta Size and texture
ensure that missed miscarriage is distinguished from
Cord Three-vessel cord*
a very early viable pregnancy where the fetal heartbeat
is simply not seen. This should be of particular concern *Optional structures.
within the first 6–8 weeks. Recent studies suggest that
a mean sac diameter (MSD) cut-off of over 25 mm and
a CRL of over 7 mm minimizes the risk of a false- perinatal complications are greater in monochorionic
positive diagnosis of miscarriage4 (Figures 1-1 and than dichorionic twin pregnancies. Monochorionic
1-2). In cases where these measurements are below twins have approximately a three- to five-fold increase
the threshold for a one-stop diagnosis a further scan in perinatal morbidity compared to dichorionic twins.
should be arranged in 7 days to assess embryonic or In monochorionic twin pregnancies the majority of
sac growth in that interval. the pregnancy losses will occur between the first and
Multiple pregnancy is present in about 3%5 of first- the second trimester,6 and are mostly due to acute twin
trimester ultrasound scans, and in these cases assess- to twin transfusion syndrome (ATTTS), selective
ment of chorionicity is crucial, as antenatal and fetal growth restriction, and discordance for fetal