Book Review

Maternal Genetic Disease

N Engl J Med 1996; 334:477February 15, 1996

Article

Maternal Genetic Disease
By Nelson B. Isada, Arie Drugan, Mark P. Johnson, and Mark I. Evans. 272 pp., illustrated. Stamford, Conn., Appleton and Lange, 1995. $75. ISBN: 0-8385-6164-0

Readers seeking a book that provides guidance on the care of the pregnant patient acutely ill with a genetic illness need to look elsewhere. However, this book is required reading for those seeking to achieve the book's stated goal: “to sensitize the obstetrician to those areas of maternal medicine that relate genetics to pregnancy with respect to their effect on the mother.” As with nearly all multiauthored books, Maternal Genetic Disease is blessed and cursed by the fact that it speaks with many voices.

The outstanding chapters include one on maternal neurologic disorders that concentrates on the three most common presentations: headache, seizures, and multiple sclerosis. A common format consisting of a general overview, a discussion of the effect of pregnancy on the mother, and a discussion of the effect of the disease and any drug therapy on the fetus is followed in this chapter and most others, but unfortunately not all. The chapters dealing with cardiac disease, anesthesia, neurofibromatosis, metabolic disorders, renal disease, and gastrointestinal disorders are particularly well written and informative.

Chapter 3 gives an overview of conventional genetics, the emerging understanding of the molecular basis of inheritance patterns, and the variety of expressions of genetic diseases. This summary alone is worth the price of the book. It is clear, concise, and insightful. Its tables and illustrative figures assist both the uninitiated and the well-read in understanding the sometimes confusing jargon of modern clinical genetics.

I am concerned that several important categories of disease, such as primary pulmonary disorders and skeletal dysplasias, are virtually ignored. Osteogenesis imperfecta is covered well in the chapter on connective-tissue diseases, but conditions such as achondroplasia and epiphyseal dysplasias are not described in any meaningful manner. The discussion of pulmonary diseases is woven into various chapters, but the inheritability of asthma is not discussed.

The chapter on mental retardation has wonderful tables for quick reference. The authors of this chapter quaintly refer to the fragile X syndrome by its eponym, Martin Bell syndrome, but provide little discussion of “the most common cause of familial intellectual disability.” In the entire book, fragile X syndrome is mentioned only three times. The essence of the recent work in this disease has been to clarify gene regulation and the manner in which the amplification of multiple trinucleotide repeats influences the inheritance and expression of the disorder. Disappointingly, the authors had several opportunities to discuss this fascinating common condition but failed to do so.

In the chapter on psychiatric disorders, I was surprised that fluoxetine (Prozac), the most common antidepressant now on the market, is not mentioned. The chapter on heart disease mentions the velocardiofacial (Shprintzen) syndrome but ignores the strides made in identifying it as part of the family of syndromes with microdeletions in the 22q11 region. This is important to prenatal diagnosis as well as to the counseling of patients.

This book has highlights and disappointments; its principal strength is to bring out the tremendous impact that genetic disease has on our society and will have on the next generation. As an overview, Maternal Genetic Disease has enough good information to warrant inclusion in the libraries of all who provide care for pregnant women.

Dru E. Carlson, M.D.
Cedars–Sinai Medical Center, Los Angeles, CA 90048