Caregiver opinions about fragile X population screening

Abstract

Purpose-To determine caregiver perceptions about population screening for fragile X and examine factors potentially associated with support for screening.Method-We asked 1,099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent-child bonding, indicated preferences for carrier detection, and gave reasons for their choices.Results-Caregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent-child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening.Conclusion-Caregivers of children with fragile X widely endorse screening. But because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision making.

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study

“…Our earlier surveys of parents of children with FXS found a higher acceptance of NBS for FXS and for return of results of carrier status (>80%) compared with the pilot study. 5,6 Parents of an affected child are understandably more interested in earlier identification; most would have preferred to avoid a lengthy diagnostic odyssey, but the general public has not had this experience. We conclude that the majority of the population would accept NBS for FXS and for carrier status.…”

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

“…[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.…”

Predictors of Prenatal Screening for Fragile X Syndrome

“…It is possible that standardized counseling protocols, duration of appointments, and insurance coverage could improve the effectiveness of universally offering testing. Surveys performed on caregivers who were offered newborn screening has provided invaluable information about the importance of offering testing multiple times [16]. Future studies in prenatal carrier testing that include patient interviews, such as those underway in Australia [17], are needed to gain a more nuanced understanding of the factors that underlie patients' decisions regarding fragile X screening.…”