Functional defects affect 1 in 3,500 babies and usually involve a missing or incorrectly formed enzyme (a protein necessary for processing chemical substances in the body). This type of defect can be harmful or even fatal. Functional defects include Tay-Sachs disease, and phenylketonuria (PKU).
Structural defects are those that result when a specific body part is missing or formed incorrectly or when there is an inborn problem in body chemistry. The most common type of major structural defects are heart defects, which affect 1 in 100 babies in the United States.
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