If and when such techniques as fluorescence in situ hybridization (FISH), triple-marker screening, or fetal cells isolated from maternal blood are validated for genetic testing, the committee recommends that (1) their use in prenatal diagnosis should be reviewed with the same careful considerations as those that were applied to current prenatal diagnostic techniques; and (2) professional groups work together to develop standards for the use of these technologies. Nevertheless, even when simpler, safer methods of testing are available, prenatal diagnosis will continue to raise significant social and ethical issues for individuals and for society, and these issues and consequences need to be weighed carefully in prenatal education and counseling.
The committee recommends that prenatal diagnosis not be used for minor conditions or characteristics. In particular, the committee felt strongly that the use of fetal diagnosis for determination of fetal sex or use of abortion for the purpose of preferential selection of the sex of the fetus is a misuse of genetic services that is inappropriate and should be discouraged by health professionals. However, the committee recognizes the desire to use prenatal diagnostic technology for identifying the sex of the fetus at high risk for an X-linked disorder where direct testing is not available. The committee is concerned that entrepreneurial pressures may expand the offering of prenatal diagnosis for preferential selection of one sex over the other, and that this practice may become a greater problem in the future. The committee believes this issue warrants careful scrutiny over the next three to five years as the availability of genetic testing becomes more widespread, and especially as simpler, safer technologies for prenatal diagnosis are developed.
The committee recommends caution in the use and interpretation of a predispositional or predictive test, especially for multifactorial diseases. The dangers of stigmatization and discrimination are areas of concern, as is the potential for harm due to inappropriate preventive or therapeutic measures.
Quality assurance in both testing and test interpretation is crucial in predictive testing with special attention to conditions for which effective interventions exist. The committee recommends that—in the current state of knowledge—reproductive interventions, including prenatal diagnosis and termination of the fetus, not be conducted for increased genetic susceptibility to multifactorial disorders. Testing in later life for these conditions may be appropriate. The benefits of the various presymptomatic interventions should be weighed against the potential anxiety, stigmatization, and other possible harms to individuals who are informed that they are at increased risk of developing future disease.
The principles for predictive testing of inherited cancer susceptibility are identical to those suggested for other late-onset genetic disorders: before any