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Before Birth
Prenatal Testing for Genetic Disease
Elena Nightingale and Melissa Goodman
Harvard University Press, 1990

Information on prenatal testing abounds, but few books are addressed to prospective parents in need of practical guidance. In this comprehensive and sensitive account, Elena Nightingale and Melissa Goodman offer remarkably clear answers to the set of bewildering questions generated by the concerns of parenthood.

Prospective parents are given the guidance needed to make informed choices about whether or not to undergo testing and, if they elect to do so, how best to use the results. As humans, we are recipients of a rich genetic heritage. Each human cell contains 46 chromosomes with a total of 50,000 to 100,000 genes distributed among them. Such richness carries immense possibilities for error when gene replication occurs; it is therefore not surprising that gene disorders such as Down syndrome, Huntington's disease, and neural tube defects pose a major public health problem. Rapid development of sophisticated new techniques has vastly increased our ability to diagnose genetic disorders during the prenatal period. For example, the amniotic fluid sampled in the middle trimester can be tested for such biochemical abnormalities as Tay-Sachs disease. The advent of more recent techniques, such as sampling the cells of the villi of the chorion (a procedure that can be carried out in the first trimester), employing gene probes, and using ultrasonographic detection, has advanced the diagnosis of genetic disorders faster than most researchers would have thought possible.

Nightingale and Goodman carefully explain the practicalities of this potentially confusing array of prenatal tests: how they are performed, what they reveal, and what their limitations are. The book concludes with a thoughtful consideration of the economic, ethical, and legal issues related to prenatal screening. Although primarily intended to assist prospective parents, this volume is also of interest to health care providers, public health officials, and policymakers who struggle with these difficult decisions.

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Prenatal Screening, Policies, and Values
The Example of Neural Tube Defects
Elena Nightingale
Harvard University Press

Rapid development of sophisticated new techniques has vastly increased physicians' ability to detect congenital disorders before birth. Yet advances in treatment, before or after birth, have been very modest. This discrepancy leads to ethical and social problems that require serious attention by professionals and patients alike. This innovative book tackles such problems in the case of prenatal screening for neural tube defects. Afflicting about 7,000 newborn babies each year in the United States, neural tube defects are serious abnormalities in the development of the brain and spinal cord that have grave consequences for the child and family.

The editors, Elena O. Nightingale, a geneticist, physician, and expert in health policy, and Susan B. Meister, a specialist in parent-child nursing, social and developmental psychology, and quantitative methods, led a multidisciplinary effort by distinguished Harvard faculty, including economist Richard Zeckhauser and clinical decision analyst Barbara J. McNeil. Other contributors include Donald S. Shepard, Mary L. Kiely, and Stephen G. Pauker. The book examines the impact of technology assessment, cost effectiveness analysis, and decision analysis on reaching decisions about prenatal screening. The book includes a discussion of the results of formal analyses against a backdrop of our basic ethical and societal values, as well as the analyses themselves. Health care workers, policymakers, and concerned individuals will find this volume informative and thought provoking.

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