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.