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Ultrasound of Fetal Syndromes, 2nd ed.

University of Arkansas for Medical Sciences Little Rock, AR

By Beryl R. Benacerraf. New York, NY: Churchill Livingstone, 672 pp., 2007. $179 (ISBN: 978-0443066412)

WEB—This is a Web exclusive article.

The term "syndrome" has been defined as the association of several clinically recognizable features, signs, symptoms, phenomena, or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others. It may refer only to the set of detectable characteristics in which a specific disease, condition, or disorder may or may not have an identified underlying cause. However, there are cases in which a physical cause has been identified but the word "syndrome" is sometimes kept in the name of the disease. The variable combination of findings explains why syndromes are viewed as diagnostic challenges by any clinician.

When dealing with syndromes, the diagnostician is faced with the dilemma of finding the appropriate diagnosis that may fall under this disease category. In prenatal diagnosis, whether a pregnant patient presents for an initial examination or for a second opinion, the sonologist has to put together pieces of a puzzle that may be detected initially by the sonographer. Additional images obtained by either the sonographer or the sonologist sometimes depend on his or her knowledge of known patterns of presentation of anomalies. Extensive experience in prenatal diagnosis is required to envision a book that approaches this very difficult subject from the perspective of a prenatal diagnostician. Dr. Benacerraf has taken this challenge and has produced a reference book that should be on every radiologist's list.

This book is 650 pages of a most comprehensive collection of fetal syndromes extensively illustrated with a combination of 2D and 3D ultrasound images and some gross pathologic correlation. There are vast additions to this edition as compared with the first edition, which was published in 1998. As outlined in the author's preface, 20 additional syndromes and 12 new differential diagnostic headings are featured in this edition, and more than 70% of the images are new, including an extensive variety of 3D images. The book is effectively divided into four chapters having a similar format to the first edition.

The first chapter is devoted to a differential diagnostic approach involving 78 main categories such as microcephaly, narrow chest, syndactyly, and so forth. Under each category the syndromes associated with this finding are enumerated according to subcategories that have a unifying manifestation such as growth abnormalities, facial and brain abnormalities, limb and skeletal abnormalities, chromosomal anomalies, other syndromes and sequences, teratogens, and so forth. Whenever appropriate, subcategories address the unique nature of the finding. An example of this is the main category "abnormal head shape" followed by subcategories strawberry, lemon, cloverleaf, craniosynostosis, frontal bossing, trigonocephaly, skull asymmetry, and brachycephaly. This chapter provides the sonologist with puzzle pieces that can lead to a bigger picture and the most probable diagnosis. Cross-references are provided for more detailed discussion in other sections of the book.

The second chapter makes up almost 70% of the book and is dedicated to specific discussions of individual syndromes that are grouped according to 13 main features such as growth restriction, facial anomalies, brain anomalies, limb abnormalities, skeletal dysplasias, craniosynostosis, soft-tissue anomalies, chromosomal anomalies, teratogens, tumors, sequences and associations, plus a miscellaneous category. Under each syndrome, subheadings include description and definition, abnormalities detected by ultrasound, major differential diagnosis, ultrasound diagnosis, heredity, natural history, and outcome, plus a list of suggested readings. At the end of the second chapter, a 38-page appendix provides a summary of 11 categories arranged into 9–14 columns. This section has been modified from the first edition and provides the reader with a quick review of the items discussed in more detail in the preceding pages of the chapter.

The last two chapters were cowritten by the author's associates who are obstetricians in practice, Dr. Byann Bromley and Dr. Thomas Shipp. Both chapters are updated versions of the same chapters in the first edition. Dr. Bromley's chapter on "Sonographic Fetal Findings with Borderline Significance" provides a comprehensive discussion of 13 findings considered to be "gray zones in fetal diagnosis": echogenic intracardiac focus (EIF), choroid plexus cyst (CPC), hyperechoic bowel, meconium peritonitis, liver calcifications, umbilical vein varix, persistent right umbilical vein, complete fusion of the cerebellar vermis, mild pyelectasis, echogenic kidneys, single umbilical artery, umbilical cord cyst, and extensive chorioamniotic separation after 17 weeks of gestation. The last three topics are new in this edition and replace three topics from the first edition (nuchal translucency, mild ventriculomegaly, and cystic adenomatoid malformation). Each finding is discussed according to its prevalence, etiology, sonographic findings, other considerations, differential diagnosis, aneuploidy, and management strategies. A list of suggested readings is provided for each finding.

The last chapter, by Dr. Shipp, is on "Fetal Anomalies and Syndromes Associated with Monochorionic Twins." It is divided into six subheadings as in the first edition. The first is a review of zygosity, chorionicity, and amnionicity. The next five sections deal with fetal malformations in monozygotic twins, death of a co-twin, conjoined twins, acardia, and twin transfusion syndrome. Although the topics discussed in the last two chapters do not qualify as syndromes, they are equally important subjects with which the prenatal diagnostician should be familiar. Some have been observed in association with syndromes or simply confused with other similar findings. Clarification of these abnormalities serves to complete the discussion of the various anomalies that can present in the fetus.

Whether you are a beginner or an expert in fetal diagnosis, this reference book is a valuable addition to your library. Even in tertiary referral clinics that deal with high-risk pregnant patients, information regarding fetal syndromes is often sought from many resources, both electronic and hard copy. This book can jump-start that search and may be the only book you will need for an immediate source of information at the completion of an ultrasound examination. Although many areas of uncertainty may surround the diagnosis and prognosis of a condition, the ability of the sonologist to provide accurate information to the patient at initial contact goes a long way in establishing patient rapport and confidence in the sonologist's expertise.

Most radiologists in practice may not feel a need for this book because they do not deal with many high-risk obstetric patients. May I suggest that this book contains many findings that are encountered in everyday practice by the general radiologist who may evaluate a fetus with an unsuspected abnormality. Familiarity with the contents of this book will lead to more confidence in diagnosis and less apprehension or hesitance in offering obstetric ultrasound services. As suggested by the author, this is not a textbook in obstetric ultrasound but rather a reference book from which much-needed help may be obtained. Its place is not in a private office where few people can have access. It needs to be in the ultrasound clinics where it can be available to everyone involved in prenatal diagnosis.

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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Angtuaco, T. L. Search for Related Content PubMed Articles by Angtuaco, T. L. Social Bookmarking                      What's this? Hotlight (NEW!) What's Hotlight?