The options in antenatal and neonatal care are legion. Preferences still tend to be subjective. In spite of much publicity that has raised public expectation, an up-to-date thorough evaluation of antenatal and neonatal screening was lacking. This book sets out screening approaches in a quantitative manner and will enable choices to be based on objective evidence of efficacy and, where appropriate, safety. Technical advances have sometimes been introduced uncritically and withoutadequate assessment. It has been assumed, perhaps naively, that the early detection of abnormality will invariably be a good thing. In this book, there is no such assumption that new tests or technical procedures are useful. They are only considered as a legitimate medical option if they can and havebeen shown to lead to improvements in outcome. Each disorder is defined and the screening procedure which is designed to identify the disorder critically evaluated. Priority is given to the screening of disorders which lend themselves to effective intervention and practical guidance is provided on how screening should be conducted. Most chapters include a discussion of problem areas and research needs. There are 23 chapters from leading experts from Europe and North America. The book bridgesdifferent disciplines concerned with screening and thereby improves the understanding of the subject and will improve delivery of preventive medical services. The book is directed at obstetricians, public health doctors, paediatricians and fetal medicine doctors, epidemiologists, geneticists, healthcare providers and administrators.
Foreword Richard Doll; Introduction; Principles of screening I: single tests; Principles of screening II: multiple tests; Part I: Screening for Specific Disorders; Disorders principally affecting the fetus or neonate; Neural Tube defects; Downs syndrome; X-linked disorders; Tay-Sachs disease; Genetic haematological disorders; Cystic fibrosis; Phenylketonuria and other inherited metabolic defects; Congenital hypothyroidism; Congenital dislocation of the hip; Disorders affecting the mother and the fetus or neonate; Acquired haematological disorders; Fetal and neonatal haemolytic disease; Infections in the fetus and newborn infant; Maternal and fetal disorders associated with high blood pressure; Part II: Certain Procedures used in Screening; Ultrasound as an ancillary investigation in the management of pregnancy; Ultrasound scanning for congenital abnormalities; Amniocentesis and chorionic villus sampling; Fetal blood and tissue sampling; Continuous electronic fetal monitoring during labour; Part III: Wider Issues; The ethics of antenatal and neonatal screening; Conclusions;
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