• cystic fibrosis
• carrier screening
• disclosure
• test results

Carrier screening programmes, aimed at the identification of carrier couples in the general population, provide these couples with the opportunity to be informed about their risk and about the reproductive options that are available. It has been argued that the imperfect sensitivity of the carrier test, for example in the case of cystic fibrosis (CF), might cause anxiety in couples if a mutation is detected in one of the partners, while the other tests negative, but may still carry a rare mutation (in future referred to as +/– couples).¹ Such couples have a residual risk and may be distressed by the lack of clear options, such as prenatal diagnosis.

Wald² therefore proposed a couple based screening method, where both partners provide samples simultaneously. Only those couples in which both partners are found to be carriers are informed about their carrier status, while all others are told that they have no marked increased risk, circumventing the possible anxiety in a +/– couple. To a certain extent, Wald's proposal can be considered favourable. Simultaneous sampling prevents the anxiety and need for counselling that might arise among those who are tested positive while awaiting the partner's results, which can occur in stepwise screening.^3–5 In addition, sampling one partner later requires extra effort. A major disadvantage of couple screening without full disclosure of the test results is that information is withheld from identified carriers who might need it at a later date with a new partner or whose relatives might wish to be tested. Moreover, Wald's procedure can be considered as directive counselling, because the patient is not given the full information on which choices can be based.⁵ The advantages and disadvantages of disclosure and non-disclosure of +/– results have generated much debate. Studies have reported anxiety and false …