title: Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
abstract: OBJECTIVE
  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.
authors.affiliation: Social, Statistical, and Environmental Sciences, RTI International, Research Triangle Park, North Carolina; dbailey@rti.org.
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bailey
authors.affiliation: Social, Statistical, and Environmental Sciences, RTI International, Research Triangle Park, North Carolina;
authors.forename: Anne
authors.initials: A
authors.lastname: Wheeler
authors.affiliation: Departments of Pediatrics and Neurologic Sciences, Rush University Medical Center, Chicago, Illinois;
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Berry-Kravis
authors.affiliation: Department of Pediatrics, M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California;
authors.forename: Randi
authors.initials: R
authors.lastname: Hagerman
authors.affiliation: Department of Pediatrics, M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California;
authors.forename: Flora
authors.initials: F
authors.lastname: Tassone
authors.affiliation: Department of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina;
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Powell
authors.affiliation: Department of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina;
authors.forename: Myra
authors.initials: M
authors.lastname: Roche
authors.affiliation: M.I.N.D. Institute, University of California at Davis Medical Center, Sacramento, California;
authors.forename: Louise W
authors.initials: LW
authors.lastname: Gane
authors.affiliation: Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors.forename: John
authors.initials: J
authors.lastname: Sideris
mesh_terms: D000293:Adolescent; D000328:Adult; D001007:Anxiety / Q000209:etiology; D001294:Attitude to Health; D003863:Depression / Q000209:etiology; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D009035:Mothers / Q000523:psychology*; D015997:Neonatal Screening; D011788:Quality of Life; D013315:Stress, Psychological / Q000209:etiology; D055815:Young Adult