Factors affecting mothers’ knowledge of genetic screening


Dr Julie A. Quinlivan, FRANZCOG PHD MBBS Senior Lecturer, University Department of Obstetrics and Gynaecology, The University of Melbourne, Royal Women's Hospital, 132 Grattan Street, Carlton 3053 Victoria Australia. Email: julieq@unimelb.edu.au


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.