OBJECTIVES: The possibility of newborn screening for @entity2100 is complicated by the potential for identifying premutation carriers. Although knowing the @entity1 's carrier status has potential benefits, the possibility of @entity74 in carrier @entity1 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 @entity2100 screening to new parents and returning results for both the full mutation and premutation @entity10308 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 @entity1 age and spousal support were associated with the outcomes of interest. METHODS: Eighteen mothers of screen-positive @entity1 with the premutation and 15 comparison mothers completed a battery of assessments of maternal @entity148 , postpartum @entity308 , 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 @entity148 , @entity308 , stress, or quality of life. A subset of mothers experienced clinically significant @entity148 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.

Maternal Consequences of the Detection of XXXX Carriers in Newborn Screening.

@entity1 :: ('9606', 'Species') :: ['children', 'infants', 'child'] @entity308 :: ('MESH:D003866', 'Disease') :: ['depression'] @entity2100 :: ('MESH:D005600', 'Disease') :: ['fragile X syndrome', 'fragile X'] @entity148 :: ('MESH:D001008', 'Disease') :: ['anxiety'] @entity74 :: ('MESH:D030342', 'Disease') :: ['late-onset disorders'] @entity10308 :: ('2332', 'Gene') :: ['FMR1']
@entity2100 :: (MESH:D005600,Disease) :: ['Fragile X']
