Book Review

Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment

N Engl J Med 2005; 352:1394March 31, 2005

Article

Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment
Fifth edition. Edited by Aubrey Milunsky. 1224 pp., illustrated. Baltimore, Johns Hopkins University Press, 2004. $225. ISBN: 0-8018-7928-0

For several years, Genetic Disorders and the Fetus has belonged with the classic textbooks on the shelf of every geneticist involved in genetic medicine. Because the book approaches each topic in depth, it is an invaluable reference not only for physicians but also for scientists interested in human fetal development. Topics range from the prenatal diagnosis and screening of chromosomal, biochemical, and multifactorial disorders to preimplantation genetic diagnosis and noninvasive prenatal diagnostic methods that involve the analysis of fetal cells and cell-free nucleic acids in the maternal circulation. The outstanding chapters on genetic counseling, chromosomal disorders and their detection through the screening of maternal serum, and molecular cytogenetic methods form the core of this well-designed book.

The attention given particularly to the predictive prenatal diagnosis of severe adult-onset genetic disorders, to issues raised by the use of early amniocentesis, and to the recent recognition of the late-onset tremor–ataxia syndrome in male carriers of the fragile X syndrome bring the book up to date. Finally, by including a chapter on fetal infection, the author extends the coverage of topics to nongenetic disorders. In editing the fifth edition of this multiauthored book, Milunsky has succeeded in providing an updated source of guidance and a major repository of knowledge for those of us practicing fetal medicine and involved in human fetal research.

Michel Vekemans, M.D., Ph.D.
Faculté de Médecine René Descartes, Paris, France
vekemans@necker.fr