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Promise, Progress, and Problems

Joe Leigh Simpson, MD

JAMA. 1999;282:1873-1874.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Few can resist the siren call of fetal surgery. The media are fascinated. Physicians in obstetrics, pediatric surgery, and, especially, reproductive genetics envision fetal surgery and therapy as the natural extension of prenatal genetic diagnosis. In utero diagnosis of birth defects is an attractive option and becoming more widespread. However, 30 years after the first in utero diagnosis,¹ the major benefit of prenatal genetic diagnosis is better reproductive counseling for the parents. While this is laudable, physicians like to treat.

There exist well-publicized successes in medical fetal diagnosis and therapy.² Noteworthy cases include cyanocobalamin-responsive methylmalonic acidemia treated in utero by administering large doses of cyanocobalamin to the mother.³ Biotin-responsive multiple carboxylase deficiency was similarly treated in utero by administration of biotin to the mother.⁴ The most common indication for maternal drug administration to treat a Mendelian disorder condition is dexamethasone treatment for female fetuses with 21-hydroxylase . . . [Full Text of this Article]

Author Affiliation: Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex.

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