Ultrasound of Congenital Fetal Anomalies

378 Pages·2007·27.23 MB·English

by  Dario Paladini

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Ultrasound of Congenital
Fetal Anomalies
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Ultrasound of Congenital
Fetal Anomalies
Differential Diagnosis and Prognostic Indicators
Dario Paladini
MD
Head,Fetal Cardiology Unit
Department of Obstetrics and Gynecology
University Federico II of Naples
Naples
Italy
Paolo Volpe
MD
Head,Fetal Medicine Unit
Department of Obstetrics and Gynecology
Hospital Di Venere
Bari
Italy
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© 2007 Informa UK Ltd
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Dedications
To my father and Carmen
To my father, Pia and my daughters, Grazia and Francesca
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Contents
Preface ix
Foreword by Yves Ville xi
Acknowledgments xiii
1. Anatomic survey of the fetus and its relationship to gestational
age – what can be seen and cannot be seen 1
2. Central and peripheral nervous system anomalies 11
3. Craniofacial and neck anomalies 63
4. Cystic hygroma and non-immune hydrops fetalis 103
5. Congenital heart disease 113
6. Thoracic anomalies 183
7. Anomalies of the gastrointestinal tract and abdominal wall 207
8. Urinary tract anomalies 231
9. Skeletal dysplasias and muscular anomalies:a diagnostic algorithm 267
10. Chromosomal and non-chromosomal syndromes 301
Appendix 337
Index 353
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Preface
‘All you were craving to find in a textbook and could not’: this could represent the philosophy of this
volume. We tried to answer the questions which remained unanswered during our training in fetal med-
icine some 20 years ago. In fact, this book was conceived with the purpose to provide some help to the
operators confronted everyday with the challenging task of ultrasound diagnosis of fetal malformations.
In our early experience with fetal ultrasound, we have felt on our skin the unpleasant sensation of look-
ing at something unusual or wrong without been able to tell what it is, unable to put a name to it. The
most frequently asked questions with which the fetal medicine trainee/expert is confronted with every-
day are: ‘Is the finding real or merely an artefact’? ‘Is the diagnosis correct’? ‘Is it hereditary’? ‘Is it cor-
rectable’? ‘Which other lesions should it be differentiated from’? ‘Which are the management options
and what is the prognosis?’ However, to be able to find the description of an abnormal ultrasound find-
ing in a textbook, one generally has to search by the definite diagnosis…which has not been made yet!
This uneasy feeling was the first factor that pushed us to design this volume in its present format, i.e.
with an ample part dedicated to fetal anomalies ‘by scanning view’. We have tired to describe, for all
major ultrasound planes – organ after organ – what can be considered as a normal view and what can
not; in other words how each particular ultrasound view can differ from its normal appearance and what
are the corresponding diagnoses. From ultrasound sign to final diagnosis is the mission of this book, for
it is in this way the diagnostic process goes and not the other way round. To further ease the consulta-
tion process, we have included plenty of illustrated diagnostic flowcharts.
Another wish of our training days was to actually see the malformed babies, and not just imagine them
on the basis of the ultrasound findings. However, despite the number of textbooks published on fetal
anomalies since those days, in very few are we able to find a detailed echoanatomic correlation. Relatively
few images of specimens are given to illustrate the real aspect of major malformations altering the external
aspect of the fetus. This, we felt, was another issue we strongly wanted to deal with in detail. As a result a
whole imaging archive, covering years and years of pictures shot just after termination of pregnancy to
illustrate rare and less rare abnormalities has been included in the present volume, taking care to portray
the anomaly/abnormal feature as it appears on ultrasound.
Finally, everybody working in prenatal diagnosis knows that this represents a multidisciplinary field in
which genetics, neonatology, human dysmorphology, fetal medicine, pediatric and cardiac surgery comes
together in order to provide the unfortunate couple with a reliable estimate of the diagnosis, the cause of
the anomaly, the possible treatments if available, the chances of survival, and the recurrence risk in subse-
quent pregnancies. This is why, in the second part of each chapter, the single malformations are treated in
detail, providing the key information regarding all the above mentioned items in a structured, reader-
friendly way.
At the end, if the reader was found in this book at least some of the items he/she was craving to find in a
textbook and could not, it would mean that our training, and trainers have taught us something.
Dario Paladini
Paolo Volpe
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