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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 Diagnosis and Selective Abortion
Harry Harris
Harvard University Press, 1975

The ability to identify and abort fetuses with certain genetic abnormalities is among the most recent and most important of medical advances. In this book, one of the world's leading medical geneticists, Harry Harris, discusses the promise and the perils of the new techniques. Dr. Harris writes with great clarity; he explains technical concepts and terms so well that a layman can follow his account with little effort. This book will serve as an excellent introduction to a large and growing literature.

Dr. Harris begins by explaining methods of prenatal diagnosis and the kinds of disease that can, at present, be identified in utero. He identifies technological limitations of the procedure and also discusses certain theoretical factors that limit its future applicability. The book concludes with a long and balanced examination of ethical issues entailed by the practice of selective abortion. The author limits discussion of his own opinions in favor of evaluating the main contemporary positions and exploring the basis of controversy. He makes clear, however, his own view that there are clear advantages to the technique and clear limitations and that there will always be gray areas in which decision must be painful and individual—unaided by pat moralizing.

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Prenatal Testing and Disability Rights
Erik Parens and Adrienne Asch, Editors
Georgetown University Press, 2000

As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities.

In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

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front cover of Tangled Diagnoses
Tangled Diagnoses
Prenatal Testing, Women, and Risk
Ilana Löwy
University of Chicago Press, 2018
Since the late nineteenth century, medicine has sought to foster the birth of healthy children by attending to the bodies of pregnant women, through what we have come to call prenatal care. Women, and not their unborn children, were the initial focus of that medical attention, but prenatal diagnosis in its present form, which couples scrutiny of the fetus with the option to terminate pregnancy, came into being in the early 1970s.

Tangled Diagnoses examines the multiple consequences of the widespread diffusion of this medical innovation. Prenatal testing, Ilana Löwy argues, has become mainly a risk-management technology—the goal of which is to prevent inborn impairments, ideally through the development of efficient therapies but in practice mainly through the prevention of the birth of children with such impairments. Using scholarship, interviews, and direct observation in France and Brazil of two groups of professionals who play an especially important role in the production of knowledge about fetal development—fetopathologists and clinical geneticists—to expose the real-life dilemmas prenatal testing creates, this book will be of interest to anyone concerned with the sociopolitical conditions of biomedical innovation, the politics of women’s bodies, disability, and the ethics of modern medicine.
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