Although daughters often are healthy, prospective mothers may find it undesirable for their daughters to be carriers. In the clinic, we have observed women who objected to passing on their reproductive issues to their daughters. Mothers who were proven carriers with an affected child were more inclined to change their reproductive plans (Lewis et al. 2011). Research has shown that mothers of children affected by X-linked disorders had a rather strong tendency to experience feelings of guilt and self-blame, often reinforced by the father who may blame the mother as well (James et al. 2006). Given the difficulties this website carrier women have in disseminating the information to at-risk

relatives, recommendations are to offer women support SB431542 manufacturer to ensure that relatives with a reproductive wish are informed in a timely manner about their own risk for transmitting the disease allele (van Rijn et al. 1997). In case of an autosomal recessive disorder in the family, such as cystic fibrosis (CF), couples may present for carriership testing. These couples often are aware of the disease because of their family history. Generally, heterozygosity, in case of CF, has no consequences for the health of the prospective parents (Read and Donnai;

in this issue). Studies into screening for CF found that carriers were not greatly distressed about their Selleck SB202190 personal test result. However, if both partners were carrying a CFTR mutation, they may feel distressed about the increased risk for their offspring (Watson et al. 1992). Another study found that carriers reported no impact of the test result on their reproductive plans (Henneman et al. 2002). In case of screening, there is generally no positive family history of CF and couples may have a less vivid image of what CF may be. Studies showed that parents of a child with CF choose to have PND in 20 to 65 % dipyridamole of cases (Evers-Kiebooms et al. 1990; Borgo et al. 1992; Jedlicka-Köhler et al. 1994), but carrier–carrier couples opted for PND in

28 out of 31 cases (90 %) (Super et al. 1994; Brock 1996). Couples may be less prepared to accept a miscarriage risk when they have already had the experience of bearing and raising a child. In case of autosomal recessive disorders, couples may have trouble understanding their reproductive risks (James et al. 2006). Several studies have consistently reported that recall and understanding of genetic risk is poor (Austin 2010; Smerecnik et al. 2009). When one of the prospective parents is at increased risk of transmitting a known autosomal dominant disorder such as Huntington disease (HD), carrier testing is an option in order to determine whether one’s offspring is at increased risk as well. Genetic counsellors view the discussion of reproductive options as one of the five main themes of the counselling for HD (Hines et al. 2010). These individuals often indicate that in the absence of a reproductive wish they would not opt for testing.