Preface to the Second Edition

We are delighted to introduce this updated edition of our original textbook, which was intended to provide a multidisciplinary approach to the full implications of a fetal sonographic or chromosomal diagnosis—from prenatal management to long-term outcome—for an affected child.

Over the last decade since the publication of the first edition we have received considerable feedback from both patients and our colleagues regarding the strengths and areas needing improvement in the original text. Efficient access to a compilation of available information to answer many of the questions that parents ask when a fetal anomaly is diagnosed has been warmly embraced. Our colleagues have found the layout of the text to be helpful to extract the relevant pieces of information that they seek during a patient consultation. Frequently this may involve a rapid review of the sonographic features of a particular abnormality, while at other times it may require a synopsis of current surgical approaches to the repair of a complex malformation. Since 2000, the field of obstetric imaging has advanced rapidly, making many of the images in our original text dated and not reflective of contemporary imaging capabilities. This has required a complete review of all supplied images and we are grateful to our colleagues and patients for their assistance in providing the significantly improved illustrations in this latest edition. Another novel feature of this edition is the availability of succinct Key Points at the beginning of each chapter. This allows for rapid review of a particular condition when perhaps only a few moments are available for review between patient visits during a busy clinic.

As with the first edition of Fetology, we remain convinced that the diagnosis and management of a fetus with an anomaly requires that an expertise be developed outside the traditional boundaries of the existing specialties of obstetrics, pediatrics, and surgery. The problem-oriented multidisciplinary team approach, as illustrated by Fetology, has analogies in other specialties, such as cardiology, where the cardiologist, cardiac surgeon, and radiologist all focus on heart disease.

This book's intended audience remains practitioners who care for fetuses or neonates with sonographically detected anomalies, and who seek prenatal and postnatal information regarding specific conditions. Included in this audience are general obstetricians, maternal-fetal medicine subspecialists, genetic counselors, neonatologists, pediatricians, pediatric subspecialists, and pediatric surgeons. As well as including information on some of the common chromosomal aneuploidies that may be detected when karyotyping is performed for a sonographic abnormality, we have also included new chapters summarizing contemporary approaches to first and second trimester screening for aneuploidy. First trimester screening, in particular, has undergone marked changes in standards and potential over the last decade. This includes sonographic techniques, serum markers, and novel ways of combining these approaches.

Although the book is directed toward a medical audience, prospective parents remained in our thoughts while we were updating the text. Most of the chapters were written by imagining that the prospective parents were in our offices seeking advice regarding the abnormal fetal finding. We have attempted to provide a balanced, scholarly, nondirective approach to management, which may differ significantly from what prospective parents may find on the Internet. Each chapter has a consistent format to facilitate locating specific kinds of information.

Fetology began as a collaborative work at the Fetal Diagnosis and Treatment Program at New England Medical Center and Tufts University School of Medicine in Boston in 1993. By 2000, the original Boston team had dispersed to various academic medical centers throughout the United States, and today the authors represent a diverse international team of fetal medicine experts, spanning maternal-fetal medicine, neonatology, genetics and pediatric surgery. While the four of us brought to each case our individual approaches based on our different subspecialty training, we collectively recognized the need to present a coordinated and comprehensive plan to parents faced with a diagnosis of a fetal abnormality. Dr. Bianchi is a pediatrician, neonatologist, and medical geneticist who is interested in the correlation of pediatric outcome with prenatal sonographic findings; Dr. Crombleholme is a pediatric surgeon who has also trained in fetal surgical intervention. He writes extensively on the possibilities for surgical treatment of these diverse conditions and provides important information on long-term outcome. Dr. D'Alton is an obstetrician and maternal-fetal medicine specialist with expertise in antenatal sonographic diagnosis of anomalies. Dr. Malone is also a maternal-fetal medicine specialist who has spearheaded the development of new approaches to aneuploidy screening, as well as directing an international multidisciplinary fetal therapy program.

We have remained loyal to our original premise that a multi-authored textbook would not specifically address the multiplicity of expertise necessary to care for the fetal patient. Each section of our Fetal Treatment Program has been developed collaboratively by the four of us to bring our individual training, experience, and knowledge base from each fetal patient whom we have consulted on and treated. We hope that our book remains more than a mere collation of facts, but instead is a cohesive approach to diagnosis, management, and treatment of the fetal patient. Each of the four of us therefore have had input into each chapter.

As with the first edition of Fetology, we hope that this reference serves to increase recognition of the unique aspects of caring for the fetal patient. We hope that by viewing conditions from both the prenatal and postnatal perspective, we will foster collaboration between the existing medical specialties, and ultimately benefit the care of fetal patients and their families.