scope:

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 medicine 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 looking 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 everyday are: 'Is the finding real or merely an artefact'? 'Is the diagnosis correct'? 'Is it hereditary'? 'Is it correctable'? '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 finding 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 consultation 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 subsequent 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, readerfriendly 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.