PEDIATRICS Vol. 74 No. 3 September 1984, pp. 424-427
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Ethical Issues in the Prenatal Diagnosis of Phenylketonuria

Neil A. Holtzman MD1

1 From the Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore

Clinicians often view ethical dilemmas in terms of individual patients: would couple X, who have a normal 2-year-old child with phenylketonuria (PKU) (due to early treatment), want prenatal diagnosis with subsequent pregnancies? Eventually, the question will be posed on that level, but not yet. At this stage, we are still dealing with a new, unproven technology; a more generic analysis is needed. We must consider whether the technology is ready to be disseminated, and if so, how. Until recently these questions were seldom asked. As a result, modern medicine is replete with examples of technologies—drugs, surgical operations, laboratory tests—whose lack of effectiveness became evident, sometimes at great cost, only after they became part of routine medical practice.1 Lack of "effectiveness" of prenatal diagnosis for PKU could mean the abortion of fetuses unaffected with the disorder, and the unwanted birth of affected infants. The technology introduces a new ethical issue as well: the appropriateness of abortion for treatable conditions.

Three issues should be addressed before new technologies are disseminated: validation, acceptance, and proliferation. I will use prenatal diagnosis for PKU to illustrate them. Several items to be discussed under "acceptance" also apply at the personal level. I pose them because they are important in deciding if and how the new technology should be made available, which is a matter of public policy. Lest one think these decisions have all been made for prenatal diagnosis for PKU, consider the following: (1) Research funding must continue to discover other restriction endonuclease sites, develop better probes, and simplify the techniques.