Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening

Abstract

The possibility of newborn screening for fragile X syndrome is complicated by the potential for identifying premutation carriers. Although knowing the child's carrier status has potential benefits, the possibility of late-onset disorders in carrier children and their parents raises concerns about whether such information would be distressing to parents and potentially more harmful than helpful. This study sought to answer this question by offering voluntary fragile X screening to new parents and returning results for both the full mutation and premutation FMR1 gene expansions. We tested the assumption that such information could lead to adverse mental health outcomes or decision regret. We also wanted to know if child age and spousal support were associated with the outcomes of interest.METHODS: Eighteen mothers of screen-positive infants with the premutation and 15 comparison mothers completed a battery of assessments of maternal anxiety, postpartum depression, stress, family quality of life, decision regret, and spousal support. The study was longitudinal, with an average of 3 assessments per mother. RESULTS:The premutation group was not statistically different from the comparison group on measures of anxiety, depression, stress, or quality of life. A subset of mothers experienced clinically significant anxiety and decision regret, but factors associated with these outcomes could not be identified. Greater spousal support was generally associated with more positive outcomes.CONCLUSIONS: Although we did not find evidence of significant adverse events, disclosure of newborn carrier status remains an important consideration in newborn screening policy.WHAT'S KNOWN ON THIS SUBJECT: Parents generally adapt well to newborn screening results, but reactions to carrier status for X-linked conditions are unknown. WHAT THIS STUDY ADDS:Results suggest that detection and disclosure of FMR1 newborn carrier status may not result in significant adverse events for mothers.

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

“…Third, there may be family characteristics that we did not assess that could have contributed to parents' willingness to have their baby screened, and the parents who agreed to participate in the longitudinal study may be different from those who did not (although we found no differences in maternal age, marital status, race/ ethnicity, maternal education, and CGG repeat length of the identified child). 60 Finally, the study was not designed to prove benefit for children and, as such, does not answer the ultimate question of whether FX NBS is good public policy.…”

Brain and behavior development in autism from birth through infancy

“…[69][70][71][72] Similarly, most studies of newborn screening report minimal psychological distress for parents after early diagnosis. 68,73,74 However, there are still concerns about the psychological impact on parents who receive results from pediatric predictive testing, 75 and additional research should be focused on identifying and assisting those parents who may be more vulnerable to adverse outcomes after receiving results. 74,76 Furthermore, additional research and supports need to address the challenge of managing the child's condition, 73 impact on family dynamics, 77 potential for discrimination and stigma, 78 and ever-changing societal perceptions.…”

“…68,73,74 However, there are still concerns about the psychological impact on parents who receive results from pediatric predictive testing, 75 and additional research should be focused on identifying and assisting those parents who may be more vulnerable to adverse outcomes after receiving results. 74,76 Furthermore, additional research and supports need to address the challenge of managing the child's condition, 73 impact on family dynamics, 77 potential for discrimination and stigma, 78 and ever-changing societal perceptions. 79 Although considerable work lies ahead of the autism field, the development and validation of biomarkers for ASD will help move the field of psychiatry toward its aspiration of precision medicine, 80 in order to determine the best treatment, at the optimal time, for specific subtypes.…”

Comparison of processing-induced deformations of InP bonded to Si determined by e-beam metrology: Direct vs. adhesive bonding

“…Wafer bonding adds additional level of complexity in the process, and affects the alignment accuracy depending on the type of bonding used [19]. Unless some special self-aligning device designs [20] or pattern distortion compensation methods are adapted, integration precision usually only relies on a high density of alignment marks near device structures. Better understanding of the wafer-scale non-uniformities of the bonded III-V on Si wafers is therefore needed for the design and processing optimization.…”