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• W1906907046 abstract "OBJECTIVES: 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." @default.
• W1906907046 created "2016-06-24" @default.
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• W1906907046 date "2015-08-01" @default.
• W1906907046 modified "2023-10-02" @default.
• W1906907046 title "Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening" @default.
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• W1906907046 doi "https://doi.org/10.1542/peds.2015-0414" @default.
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