Fetal medicine has emerged as a separate subspecialty over the last 30 years as a result of major advances in a number of areas, in particular ultrasound imaging, cytogenetics, molecular biology and biochemistry. The widespread use of antenatal screening and diagnostic tests has led to an increased need for obstetricians to have knowledge and skills in fetal medicine. This book provides the information that underpins training programmes in fetal medicine and integrates science and clinical disciplines in a practical and useful way. Clinical sections include: the latest advances in prenatal screening; a systems-based presentation of the diagnosis and management of fetal malformations; complete coverage of common and rare fetal conditions including growth restriction, endocrine and platelet disorders, early pregnancy loss, and twins/multiple pregnancy. More focus on important basic-science concepts, such as maternofetal cell trafficking, and the relevance to clinical management.

This book is for every individual with cystic fibrosis and their families, and for the caregivers, researchers, and the many volunteers who have helped to further progress in the treatment and understanding of this disease. This book is also for historians and those interested in the story of a voluntary health organization whose insightful leadership successfully grew effective, wide ranging programs and developed a strategy of collaboration with associated agencies and interests that made for efficient and dramatic progress.

Contains information about laboratory procedures including test name and synonyms, patient care recommendations, specimen requirements, reference ranges, interpretive information, footnotes, and references. This ed. has expanded coverage of laboratory assays related to molecular pathology and treatments of clinical virology and therapeutic drug monitoring.

Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and costly disease. The tests for CF are currently limited to prenatal diagnosis in siblings of a victim of CF. Direct gene probe tests, which have yet to be developed for CF, would be applicable even in families that have not already borne a child with the disease. We examine the costs and benefits of prenatal testing for cystic fibrosis using existing RFLP-based tests and using a hypothetical direct gene probe test. We find that even an expensive RAPbased testing program produces substantial net benefits, because it is applied in pregnancies in which the risk of CF is 25%. If a direct gene probe test is applied in all pregnancies, it will need to be much less expensive to generate net benefits, and it will lead to the abortion of many normal fetuses unless it is highly specific. Because these new tests are likely to generate substantial savings in medical expenditures and to increase lifetime earnings, parents of CF-affected children may be subjected to strong pressures to participate in prenatal testing programs and to abort fetuses that test positive. It is imperative that the ethical dilemmas arising from this promising screening test be discussed openly before it becomes widely available.

Provides an overview of the impact that recombinant DNA technology is having, and should continue to have, on the practice of medicine. Chapters attempt to describe molecular medicine within disciplines, from molecular technology and medical genetics, to therapeutics and forensic medicine.