Attitudes toward prenatal screening and testing for Fragile X

Abstract

Purpose: Currently, the American Colleges of Medical Genetics and Obstetrics and Gynecology recommend screening in the prenatal setting only for individuals with specific family history indicators. Our aims were to study patient attitudes and psychologic impact of offering widespread screening for Fragile X in a prenatal setting.Methods: Participants were recruited from pregnant women referred for "Prenatal Diagnosis Options" counseling by their primary provider in the first trimester of pregnancy. Results: Pretest knowledge about Fragile X was limited; 33% had heard of Fragile X syndrome before enrollment. Postcounseling knowledge was similarly limited; only 30% accurately understood the 50% risk for girls. Participants were strongly in favor of being tested or screened, and did not experience undue anxiety related to Fragile X testing. Respondents hoped that knowledge of Fragile X in the general population would increase, and recommended that screening be offered during routine prenatal care.Conclusion: Fragile X screening in this setting was a favorable testing experience for the participants. Limited pretest knowledge and posttest retention of specific genetic information on Fragile X suggest that widespread screening will pose significant counseling and educational challenges, which should be addressed in such programs. Genet Med 2006:8(2):129-133.

Carrier screening in preconception consultation in primary care

“…The majority were with pregnant women (Berkenstadt et al 2007;Cronister et al 2005;Fanos et al 2006;Huang et al 2003;Pesso et al 2000;Spence et al 1996;Ryynanen et al 1999;Toledano-Alhadef et al 2001;Kallinen et al 2001), while some included relatively smaller numbers of nonpregnant women (Pesso et al 2000;Spence et al 1996;Toledano-Alhadef et al 2001;Berkenstadt et al 2007;Geva et al 2000). Most studies essentially focused on the uptake of testing, with rates varying between 7.9% ) and 21% (Spence et al 1996) in the USA, 80% in Israel (Pesso et al 2000), and 85% (Ryynanen et al 1999) and 92% respectively in two Finnish studies (Kallinen et al 2001).…”

“…Awareness of FXS is considered low in the general community (Anido et al 2005;Anido et al 2007;Archibald et al 2009;Fanos et al 2006;Metcalfe et al 2008). There have been only two reports measuring women's knowledge of FXS who were offered testing.…”

“…There have been only two reports measuring women's knowledge of FXS who were offered testing. This was measured 1 month after testing in 20 pregnant women (10 with a family history of FXS and 10 without), which showed their understanding was limited (Fanos et al 2006). In the study by Metcalfe et al, women completed a questionnaire measuring knowledge, attitudes and anxiety levels at the time of being offered testing and 1 month after, and included women who declined testing .…”

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

“…7 The psychosocial consequences of preconceptional CGG repeat length screening have been studied in great detail and were found to be in favor of a generalized screening. [8][9][10] In addition, the attitudes of key medical care stakeholders toward the challenges of general population-based screening programs were found to be favorable, 6,11 and preconceptional testing was most endorsed. 12 Despite these well-studied advantages of a population-based screening and the wide acceptance among key stakeholders of medical care, screening programs have so far only been conducted in research settings.…”

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

“…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.…”