PubMed · 9889130
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B A Fischer, M J Zigmond. 1999-01-14. Do the right thing.. https://doi.org/10.1016/s0960-9822(99)80026-8
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Large-scale population screening for carriers of fragile X syndrome is premature. Notably the limited possibilities to detect carriers (of an instable premutation) in the general population with certainty, poses some ethical dilemmas. The possible psychological consequences of this are unknown. A pilot study can only be started if the added value of population screening as opposed to cascade screening is plausible, and the requirement of proportionality is satisfied. If this is the case, preconceptional screening is preferable to prenatal screening. Information should be provided in a process-like manner as this fits in best with the decision-making process that possibly follows participation in a population screening for carriers of fragile X syndrome. Further research into the ethics of cascade screening is desirable. This screening can be carried out on a complementary basis to population screening.