A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

A mixed methods exploration of families’ experiences of the diagnosis of childhood spinal muscular atrophy

“…7 FXS and cystic fibrosis studies consistently show a preference for carrier screening over other screening options, with this occurring ideally before pregnancy. [31][32][33] Increasingly, carrier screening for panels of genetic conditions are being offered 34 and a carrier screening program combining testing for SMA, FXS and cystic fibrosis has recently been launched in Victoria, Australia; uptake of testing has not yet been determined. As more conditions are added to carrier screening panels, it will be important to understand couple's decision-making, especially for conditions in which prognostic outcomes are not always clear.…”

Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study

“…2 Considering the severity of the syndrome, the frequency of the carrier status and the potential long-term benefits to the daughters knowing about their mother's screening result, the installment of population-based screening programs has been advocated repeatedly. [3][4][5] In addition, carrier status testing would also enable women into timely reproductive planning. 6 Even in the absence of a family history of the fragile X syndrome, the cost-effectiveness of prenatal genetic testing programs identifying the carrier status of women has been demonstrated.…”

“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

“…Briefly, stakeholders invited to take part in this study included health professionals, relatives of people with FXS, and members of the general community (this included women who had been offered FXS carrier screening through a research study (Archibald et al 2009;Metcalfe et al 2008)). Approval to recruit members of stakeholder groups was granted by the following Human Research Ethics Committees (HREC): The University of Melbourne HREC, Family Planning Victoria (HREC), and the Royal Childrens Hospital (RCH) (Melbourne, Victoria) HREC.…”

“…Data were collected through semistructured interviews and focus groups using questions developed by drawing on published qualitative research in this area (Anido et al 2005(Anido et al , 2007 and our prior research outcomes (Metcalfe et al 2008;Metcalfe and Archibald 2012). Topics included general questions about awareness of genetic conditions, genetic screening, and FXS; perceptions of factors that might influence decision-making about carrier screening, perceived benefits, and concerns about carrier screening; views on whether population-based carrier screening should be available to all women; and when and where FXS carrier screening could be offered.…”

“…The need for appropriate education and genetic counseling has been emphasized as has the importance of research exploring psychosocial impacts of such screening (Finucane et al 2012;Sherman et al 2005). Research indicates that population screening for FXS is generally perceived favorably by families and healthcare providers (Acharya and Ross 2009;Archibald et al 2013;Ryynanen et al 1999;Skinner et al 2003) as well as individuals offered screening in research contexts (Anido et al 2005(Anido et al , 2007Archibald et al 2009;Fanos et al 2006;Metcalfe et al 2008;Sherman et al 2005), and there appears to be a preference for screening offered before pregnancy (Acharya and Ross 2009;Archibald et al 2013;Skinner et al 2003). As carrier screening approaches have varied, there is no clear consensus on how best to deliver population-based carrier screening for FXS.…”