Screening op dragerschap van het fragiele-X-syndroom; ethische verkenning

- 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.