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Assessing Genetic Risks: Implications for Health and Social Policy
ability to identify, at an early gestational age, fetuses at increased risk of neural tube defects or Down syndrome for further follow-up prenatal diagnosis, including a second MSAFP test, ultrasound, and amniocentesis. However, a serious drawback in the use of this screening test in a broad population is the anxiety it creates for women and their families. Generally, the women being tested had no reason to be concerned about genetic disorders in their fetus based on family history or other indications of high risk; when test results are negative, parental anxiety created by the screening can often be relieved. On the other hand, the committee heard testimony about the significance of the anxiety raised by MSAFP screening, as well as evidence that the initial screening nature of the test may not be well understood by pregnant women to whom it is offered (Faden et al., 1985; Hoyt, 1992; Press and Browner, 1992a,b). Given the nature of MSAFP screening, with its high rate of initial positives and the variety of conditions that aberrant levels might indicate, the committee recommends intensive follow-up, both to confirm predictive value and to ensure counseling for women with abnormal screening results.
Thus, the committee recommends that anyone considering prenatal diagnosis be informed about the risks and benefits of the testing procedure, and the possible outcomes, as well as alternative options to testing and other reproductive options that might be available. Principles of disclosure for informed consent, whether for routine or experimental prenatal screening or diagnosis, should include (1) fair and balanced explanation of the procedures and their safety; (2) a description of the risks and benefits; (3) consideration of all possible outcomes, including the possibility that one option might be termination of the pregnancy; (4) knowledge of the potential need for and availability of psychosocial counseling; (5) documentation of consent; and (6) full information concerning the spectrum of severity of the genetic disorders for which prenatal diagnosis is being offered (e.g., CF, Down syndrome, fragile X). Furthermore, invasive prenatal diagnosis is justified only if the pursuant diagnostic procedures are accurate, sensitive, and specific for the disorder(s) for which prenatal diagnosis is being offered. All candidates being offered prenatal screening and diagnosis should be informed about all of the risks and benefits described above to ensure that participation is voluntary.
The committee recommends that standards of care for prenatal screening and diagnosis should include education and counseling before and after the test. Thus, prenatal diagnosis should always be provided in conjunction with genetic counseling, either directly or by referral. Furthermore, the committee recommends that third-party insurers and payers should reimburse for appropriate prenatal diagnostic services (seeChapter 7) for those at increased risk of serious genetic disorders, or screening to determine increased risk, including genetic counseling as an essential service, and that third-party payers should be neutral on the reproductive outcome of the prenatal diagnosis and subsequent reproductive decision making; third-party payers should not be informed of the results of prenatal screening and diagnosis.