Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study
Donald B Bailey1, Elizabeth Berry-Kravis2, Louise W Gane3
1Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina; dbailey@rti.org.
Insights
Newborn screening for Fragile X syndrome (FXS) shows public acceptance but highlights challenges in obtaining informed consent shortly after birth. Further research is needed to determine the benefits of early identification for children and families.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- Delays in diagnosing Fragile X syndrome (FXS) prompt consideration of newborn screening.
- Ethical concerns exist regarding carrier detection without early treatment for FXS.
- A pilot screening study investigated the feasibility and implications of newborn screening for FXS.
Purpose of the Study:
- To assess public acceptance of newborn screening for FXS.
- To identify potential harms or adverse events associated with FXS newborn screening.
- To determine the prevalence of FMR1 gene expansions and study the consent process.
Main Methods:
- A voluntary screening program for FXS was offered to over 28,000 families across three birthing hospitals.
- Data collected included public acceptance, consent rates, carrier prevalence, and adverse events.
- Secondary objectives focused on the consent process, family follow-up, and early development of identified children.
Main Results:
- The study yielded multiple publications detailing "lessons learned" from the screening process.
- Key findings cover consent procedures, reasons for screening acceptance/declination, and decision aid effectiveness.
- Prevalence of carriers, father participation, family follow-up, and maternal reactions were also documented.
Conclusions:
- The pilot study demonstrated public acceptance of FXS newborn screening.
- Significant challenges were identified in obtaining informed consent in the immediate postpartum period.
- Findings provide a foundation for future research on the benefits of early FXS identification.
Background:
Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study.
Methods:
Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of FMR1 carrier gene expansions, study the consent process, and describe early development and behavior of identified children.
Results:
A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening.
Conclusions:
The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families.
