Prenatal Treatment of Genetic Diseases in the Unborn

Since the introduction of techniques to diagnose genetic diseases in the unborn child, the main application has been to test for severe, untreatable conditions as early in the pregnancy as possible, to allow parents to consider termination of pregnancy.Although still rare, an increasing number of genetic diseases can now be treated prenatally, or their prognosis can be improved by prenatal or early postnatal interventions. These promising developments radically change the prenatal screening and diagnosis landscape. Acceptance of prenatal screening and diagnosis may positively change, when the focus moves away from just termination as an option in case of an abnormal result. However, pretest and posttest choices for prospective parents become more complicated. In this chapter, we discuss the currently available and newly emerging methods for intervention in fetal genetic diseases, with emphasis on the published human experiments. We also highlight the complex counseling, decision-making, and ethical implications of these innovations.

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