We wrote this book 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. We believed that what we, our colleagues, our trainees, and our patients needed was a compilation of available information to answer many of the questions that parents ask when a fetal anomaly is diagnosed.
In our experience, pregnant patients frequently receive conflicting information about the prognosis for the infant, depending on the sometimes narrow perspective of a subspecialist. 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. These traditionally defined disciplines do not serve us well in addressing problems that exist outside our usual practice. By convention, pediatric care begins with the birth of an infant; however, we believe that pediatricians and pediatric surgeons can significantly contribute to the care of the fetus, their future patient. Similarly, obstetricians who do not generally provide medical care to the infant after delivery might enhance their antenatal care by being better informed about pediatric prognoses and outcomes. Pediatric surgeons who operate on fetuses or infants with congenital anomalies have more in common with perinatologists and neonatologists than with their other surgical colleagues. The problem-oriented multidisciplinary team approach 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 consists of 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, perinatologists, genetic counselors, neonatologists, pediatricians, pediatric subspecialists, and pediatric surgeons. We have also included information on some of the common chromosomal aneuploidies that may be detected when karyotyping is performed for a sonographic abnormality. Although the book is directed toward a medical audience, prospective parents were never far from our minds while we were writing. 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.
We have personally treated patients with most if not all of the conditions described within the following chapters as part of our collaborative work that began in the Fetal Diagnosis and Treatment Program at New England Medical Center and Tufts University School of Medicine in Boston in 1993. While the three 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 perinatologist with expertise in antenatal sonographic diagnosis of anomalies.
Because our approach was unique, we felt that a multiauthored textbook would not specifically address the multiplicity of expertise necessary to care for the fetal patient. In establishing our Fetal Treatment Program we worked collaboratively to bring our individual training, experience, and knowledge base to each fetal patient on whom we consulted and whom we treated. We wanted this book to be more than a mere collation of facts; we wanted a cohesive approach to diagnosis, management, and in some cases, treatment of the fetal patient. We felt that in order for this book to reflect this approach it would be best for the three of us to have input into each chapter.
Finally, we must share with the reader that the most difficult aspect of writing this book was selecting a title. Although we, as the authors, were in complete agreement regarding the body of knowledge and clinical information we wanted to convey, it did not fit simply or neatly into a single existing medical specialty While it is the general obstetrician or perinatologist who first suspects (and diagnoses) an abnormality in the fetus, it is the pediatric medical or surgical specialist who will ultimately treat the newborn infant In many medical settings, however, prospective parents of a fetus with an abnormality never meet with any pediatric specialists, let alone members of a fetal treatment team After much debate, we selected the title, Fetology: Diagnosis & Management of the Fetal Patient to indicate that the focus of this book is on the diagnosis and the overall management of the fetal patient No one medical specialty is devoted to the care of the fetus By definition, therefore, fetology requires a multidisciplinary team approach. We wrote this book as a summary of available information for ourselves, our colleagues, our trainees, and our patients to answer many of the questions that are asked when a fetal anomaly is diagnosed.
Fetology, however, is an evolving field. Many of the subtle prenatal sonographic findings in this book have only recently been described. We therefore await future clinical research to provide further information on the long-term clinical significance of many of the fetal findings reviewed here. 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.
Diana W. Bianchi, MD
Timothy M. Crombleholme, MD
Mary E. D'Alton, MD