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BOOK REVIEW

Address correspondence to: Paul Saenger, M.D., Division of Pediatric Endocrinology, Albert Einstein College of Medicine, Montefiore Hospital Medical Center, 111 East 210th Street, Bronx, New York 10467.

Diagnosis and Treatment of the Unborn Child, M.I. New, Editor; Idelson-Gnocchia, Publ. (Reddick, FL 32686), 1999, 186 pgs., price $100; to be ordered from Majors Co., P.O. Box 819074, Dallas, Texas 75381. Phone: (972) 353-1100; Fax: (972) 353-1300.

In the spring of 1998, the Department of Pediatrics, Cornell University Medical College, sponsored a multidisciplinary conference addressing clinical and research issues concerning the risks and benefits of prenatal diagnosis and treatment of various disorders.

The objectives of the meetings were to discuss the accuracy of prenatal diagnosis, to learn about the efficacy of prenatal treatment, and to evaluate benefits and risks of prenatal diagnosis and treatment to the mother and the fetus.

The proceedings of this ambitious two-day meeting in Tempe, Arizona have now been published, with the organizer of the conference, Maria I. New, serving as the editor.

The book contains an excellent overview of what is currently feasible and achievable in prenatal diagnosis and prenatal screening for genetic disease and disease prevention. The book provides an up-to-date review of carrier screening for multiple disease groups such as Tay Sachs, Gaucher’s disease, and cystic fibrosis in the Ashkenazi Jewish community by Eng and Desnick. An excellent chapter by Hilgartner addresses the problems of carrier identification and fetal diagnosis in the hemophilias. In a very timely manner, the book has two chapters by experts in the field (Rosenwaks and Simpson) on preimplantation cytogenetic diagnosis and the recovery of fetal cells in maternal blood for prenatal genetic diagnosis. Recently, this technique has been successfully applied to the preimplantation diagnosis of sickle cell disease (1).

Reflecting the considerable achievements of the organizer in prenatal diagnosis and treatment of congenital adrenal hyperplasia, two detailed chapters on congenital adrenal hyperplasia, by the Cornell group and the European consortium led by M. G. Forest, are an important part of this volume.

A much appreciated and beautifully illustrated chapter by the original author of the Smith Lemly Opitz Syndrome, describing its denouement as an inborn error of cholesterol metabolism, makes for particularly exciting reading.

I was a little disappointed that the chapters on fetal surgery and hematopoietic stem cell transplantation were a bit cursory. This one minor deficit is more than balanced by the comprehensive overview of virtually all other aspects of prenatal diagnosis and therapy that this book offers.

I recommend this reasonably priced book for all specialists with an interest in prenatal diagnosis and therapy spanning the fields of endocrinology, hematology, genetics, and metabolism. The chapters are very well organized, and the illustrations are succinct and informative. The publisher, Idelson-Gnocchi, has to be commended for the prompt efforts in getting these proceedings off the press.

Received July 8, 1999.

References

1. Xu K, Shi ZM, Veeck LL, Hughes MR, Rosenwaks Z. 1999 First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA. 281:1701–1706.[Abstract/Free Full Text]

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