• consumer;
  • Down syndrome;
  • genetic;
  • newborn screening;
  • pregnancy


Objective:  To evaluate mothers’ knowledge of terms used in genetic counselling and their participation in Down syndrome and newborn screening.

Setting:  An obstetric tertiary referral hospital in Australia.

Population:  A total of 232 consecutive women delivering a liveborn baby.

Methods:  Participants were interviewed within 24 h of blood being taken from their baby by the heel prick test for the newborn screen. Non-English speaking women were included using medical interpreters. The questionnaire assessed knowledge of terms used in genetic counselling for Down syndrome and newborn screening. A second researcher, blinded to subject demographics, scored questionnaires using a predefined scoring system.

Main outcome:  Demographic factors affecting knowledge and knowledge of Down syndrome and newborn screening test uptake.

Results:  A total of 200 women consented to participate in the present study (86.2%). New mothers had limited knowledge of genetic disease (median: 4/15, interquartile range: 2–8). In multivariate analysis, Caucasian ethnic background, English as the first language, higher level of education, and knowledge of family history were significant associations of higher knowledge scores (all P < 0.006). The majority of participants who had Down syndrome testing (54%) were aware that they had done so (51.5%; κ = 90.9%). In multivariate analysis age >35 years, English as a first language and non-married status were associated with increased test uptake. In contrast, only 26.5% of participants knew that their child had undergone the newborn screen, despite it having been carried out on 98% of babies (κ = 1.5%).

Conclusion:  Newborn screening practices may need to be reviewed.