title: Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure.
abstract: OBJECTIVE
  This study aims to assess the impact of prenatal diagnosis of de novo apparently balanced chromosome rearrangements (ABCRs) on maternal stress, family functioning and maternal plans of disclosure of genetic information to their child.
  
  
  METHODS
  All liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003) were retrospectively ascertained. Of 39 eligible cases, 16 (41%) participated in the study. Mothers of these children completed a questionnaire using standardized measures to assess family functioning, parental distress, parent-child interaction and child characteristics, with open-ended questions regarding disclosure.
  
  
  RESULTS
  The majority of mothers appeared to experience normal levels of parenting stress, quality of parent-child interaction and healthy family functioning. However, most mothers recalled experiencing a significant degree of worry at the time of receiving their prenatal test results, and some mothers (4/15) reported receiving uncertain or conflicting results. Most mothers (13/15) conveyed an understanding of the importance of disclosing this genetic information to their child, and 12/15 conveyed their intention to make this disclosure.
  
  
  CONCLUSIONS
  Most mothers reported normal parenting stress and family functioning, despite experiencing significant worry upon receiving results. Some children are at risk of nondisclosure of their carrier status.
authors.affiliation: School of Women's and Children's Health, University of New South Wales, Kensington, NSW, Australia.
authors.forename: Ingrid B
authors.initials: IB
authors.lastname: Sinnerbrink
authors.forename: Bettina
authors.initials: B
authors.lastname: Meiser
authors.forename: Jane
authors.initials: J
authors.lastname: Halliday
authors.forename: Amanda
authors.initials: A
authors.lastname: Sherwen
authors.forename: David J
authors.initials: DJ
authors.lastname: Amor
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Waters
authors.forename: Felicity
authors.initials: F
authors.lastname: Rea
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Evans
authors.forename: Belinda
authors.initials: B
authors.lastname: Rahman
authors.forename: Edwin P
authors.initials: EP
authors.lastname: Kirk
mesh_terms: D000328:Adult; D001007:Anxiety / Q000453:epidemiology / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D030881:Disclosure; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D033182:Intention; D008297:Male; D009035:Mothers / Q000523:psychology*; D010287:Parent-Child Relations; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology*; D012189:Retrospective Studies; D013315:Stress, Psychological / Q000453:epidemiology