Unintended Consequences

Untreated women with PKU are profoundly retarded and rarely have children. As a result of the successful implementation of newborn screening and treatment for PKU, however, many affected females are now in their reproductive years, have intelligence in the normal range, and can and do become pregnant. Unless these women adhere to the highly restrictive and burdensome PKU diet prior to conception and throughout their pregnancy, their children will be born with severe brain injury.

These children typically do not have PKU themselves because their fathers are not likely to be carriers since those mutations are not common. The injuries they suffer during pregnancy result instead from the high levels of phenylalanine that exist in their mothers' blood when they eat a normal diet, levels which are particularly toxic to the developing brain. The irony then is that improving the lives of women with PKU creates a high level of risk to the children they may bear. Clearly, these women need to be educated about the importance of adhering to the proper diet prior to and during pregnancy. The ethical dilemma is whether it is ever appropriate, and if so, how, to bring pressure to bear to lead these women to either follow this onerous diet or avoid childbearing altogether (Robertson and Schulman).

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