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Prenat Diagn. 2013 Sep;33(9):831-8. doi: 10.1002/pd.4131. Epub 2013 May 17.

Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement.

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  • 1School of Women's and Children's Health, University of New South Wales, Kensington, NSW, 2051, Australia.



This study aimed to determine if liveborn children with prenatally detected de novo apparently balanced chromosome rearrangements (ABCR) have more long-term health, developmental or behavioural concerns compared with children in a normal Australian population.


This was a retrospective ascertainment of all liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003). Child health, development and behaviour were assessed by maternal report using standardised measures; educational ability and achievement were measured by direct child assessment. Data were compared with relevant population norms, and one sample t-test performed to test for statistical differences.


Of 39 eligible cases, 16 (41%) participated in the study. One child (6%) was born with a congenital anomaly, and two children (12.5%) reported a chronic health concern. Compared with population norms, no significant differences were observed with respect to intelligence, mental health, child development and educational ability; children had significantly higher scores indicative of better functioning on bodily pain, social-emotional behaviour and physical functioning. No child satisfied the criteria for having a special health care need.


Children in this study with a prenatally detected de novo ABCR have similar long-term health, developmental and behavioural outcomes compared with population norms.

© 2013 John Wiley & Sons, Ltd.

[PubMed - indexed for MEDLINE]
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