Publication:
The health and developmental outcomes of children with a de novo apparently balanced chromosome rearrangement identified at prenatal diagnosis and the associated psychosocial impact on parents
The health and developmental outcomes of children with a de novo apparently balanced chromosome rearrangement identified at prenatal diagnosis and the associated psychosocial impact on parents
dc.contributor.advisor | Kirk, Edwin | en_US |
dc.contributor.advisor | Meiser, Bettina | en_US |
dc.contributor.advisor | Halliday, Jane | en_US |
dc.contributor.author | Sinnerbrink, Ingrid Brigitte | en_US |
dc.date.accessioned | 2022-03-23T18:43:02Z | |
dc.date.available | 2022-03-23T18:43:02Z | |
dc.date.issued | 2011 | en_US |
dc.description.abstract | The prenatal diagnosis of a de novo apparently balanced chromosomal rearrangement (ABCR), poses a genetic counselling challenge because (a) there is a paucity of long-term health and developmental outcome data on children born with a de novo ABCR; (b) little is known about the psychosocial effects of receiving a prenatal diagnosis of a de novo ABCR on the parent and parent-child relationship; and (c) it is not known if, when and how parental disclosure of this genetic information occurs to the child concerned. The aim of this study was to examine these 3 issues by retrospectively ascertaining all liveborn de novo ABCRs detected by prenatal diagnosis in New South Wales and Victoria over a 10-year period; to administer a structured questionnaire using standardised measures of child health, development and behaviour; parenting and family dynamics; and open-ended questions to explore parental plans for disclosure. Fifty-eight cases were eligible for inclusion, and 16 cases participated (eligible sample response rate 28%). One child (6%) was born with a congenital anomaly (congenital hip dysplasia) and only 2 children (12.5%) reported a chronic health problem (hearing loss and chronic allergies). Children in the present study reported statistically significantly better health than a normal Australian population of children in a number of areas. Our cohort reported similar behavioural concerns, parental perceptions of child development, educational achievement and ability compared to a normal population of children. The level of parenting stress and quality of family functioning experienced by the majority of parents was reported to be within the normal range. However, 4 (25%) parents reported experiencing difficulty in adjusting to parenting. Two parents (12%) were unsure about disclosure, while 60% of parents, who would disclose, did not mention they would advise their child seek genetic counselling prior to family planning. These results suggest that children with a prenatally detected de novo ABCR have few long-term health, development or behavioural concerns, but the study is limited by the small sample size. Children are at risk of non-disclosure of their carrier status, and families might benefit from follow-up counselling to facilitate communication of the genetic information to their child. | en_US |
dc.identifier.uri | http://hdl.handle.net/1959.4/50890 | |
dc.language | English | |
dc.language.iso | EN | en_US |
dc.publisher | UNSW, Sydney | en_US |
dc.rights | CC BY-NC-ND 3.0 | en_US |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/3.0/au/ | en_US |
dc.subject.other | Outcomes | en_US |
dc.subject.other | Chromosome abnormalities | en_US |
dc.subject.other | Prenatal diagnosis | en_US |
dc.title | The health and developmental outcomes of children with a de novo apparently balanced chromosome rearrangement identified at prenatal diagnosis and the associated psychosocial impact on parents | en_US |
dc.type | Thesis | en_US |
dcterms.accessRights | open access | |
dcterms.rightsHolder | Sinnerbrink, Ingrid Brigitte | |
dspace.entity.type | Publication | en_US |
unsw.accessRights.uri | https://purl.org/coar/access_right/c_abf2 | |
unsw.identifier.doi | https://doi.org/10.26190/unsworks/23726 | |
unsw.relation.faculty | Medicine & Health | |
unsw.relation.originalPublicationAffiliation | Sinnerbrink , Ingrid Brigitte, Women's & Children's Health, Faculty of Medicine, UNSW | en_US |
unsw.relation.originalPublicationAffiliation | Kirk, Edwin, Women's & Children's Health, Faculty of Medicine, UNSW | en_US |
unsw.relation.originalPublicationAffiliation | Meiser, Bettina , Clinical School - Prince of Wales Hospital, Faculty of Medicine, UNSW | en_US |
unsw.relation.originalPublicationAffiliation | Halliday, Jane , Royal Children's Hospital, Melbourne | en_US |
unsw.relation.school | School of Women's & Children's Health | * |
unsw.thesis.degreetype | Masters Thesis | en_US |
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