Screening for Fragile X Syndrome: Parent attitudes and perspectives

Abstract

Purpose: This study examined the attitudes and beliefs of 442 parents of children with fragile X syndrome (FXS) regarding different screening options for FXS. Methods: A survey was administered to parents of children with FXS across the U.S. Results: Parents indicated their support for voluntary screening for FXS, especially carrier and newborn screening. They also thought advantages of widespread screening to be more likely than disadvantages.Conclusion: Parents' support for FXS screening is at odds with current screening criteria, but as new genetic knowledge and technologies reconfigure these criteria, it will be important to take parents' perspectives into account. Genet Med 2003:5(5):378 -384.

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.…”

Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders

“…[16][17][18] However, genetic testing for ASD faces more complex issues due to (i) the complexities involving ASD (e.g., ASD is a multifactorial disease that involves complex interactions between genes and environment, and manifests in multiple types and at various severity levels), (ii) challenges of ASD genetic testing (e.g., genetic causes cannot be identified in all autistic children), and (iii) attention from the mass media and general public. 1,18,19 ASD genetic testing is often offered to individuals with a clinical suspicion of having this condition. The diagnosis of ASD is most commonly made during childhood.…”

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

“…However, it must be acknowledged that women early in pregnancy should also be provided the opportunity to consider screening. These findings are supported by other fragile X screening research and indicate that models for service delivery should focus on preconception carrier screening in primary care (Acharya and Ross 2009;Skinner et al 2003). This approach is also emphasized in CF carrier screening research (Henneman et al 2001(Henneman et al , 2002Honnor et al 2000;Tambor et al 1994).…”

“…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.…”