Before Birth

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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.