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Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure
Author(s) -
Sinnerbrink Ingrid B.,
Meiser Bettina,
Halliday Jane,
Sherwen Amanda,
Amor David J.,
Waters Elizabeth,
Rea Felicity,
Evans Elizabeth,
Rahman Belinda,
Kirk Edwin P.
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4363
Subject(s) - worry , distress , psychology , pregnancy , developmental psychology , anxiety , medicine , clinical psychology , psychiatry , genetics , biology
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. Conclusion 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. © 2014 John Wiley & Sons, Ltd.