Factors affecting mothers' knowledge of genetic screening.

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%; kappa=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 (kappa=1.5%).

Conclusion: Newborn screening practices may need to be reviewed.