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.
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.
Authors: S M Fitzgerald-Butt; A Bodine; K M Fry; J Ash; A N Zaidi; V Garg; C A Gerhardt; K L McBride Journal: Clin Genet Date: 2015-06-29 Impact factor: 4.438
Authors: Laura M Amendola; Jonathan S Berg; Carol R Horowitz; Frank Angelo; Jeannette T Bensen; Barbara B Biesecker; Leslie G Biesecker; Gregory M Cooper; Kelly East; Kelly Filipski; Stephanie M Fullerton; Bruce D Gelb; Katrina A B Goddard; Benyam Hailu; Ragan Hart; Kristen Hassmiller-Lich; Galen Joseph; Eimear E Kenny; Barbara A Koenig; Sara Knight; Pui-Yan Kwok; Katie L Lewis; Amy L McGuire; Mary E Norton; Jeffrey Ou; Donald W Parsons; Bradford C Powell; Neil Risch; Mimsie Robinson; Christine Rini; Sarah Scollon; Anne M Slavotinek; David L Veenstra; Melissa P Wasserstein; Benjamin S Wilfond; Lucia A Hindorff; Sharon E Plon; Gail P Jarvik Journal: Am J Hum Genet Date: 2018-09-06 Impact factor: 11.025
Authors: Makda H Araia; Brenda J Wilson; Pranesh Chakraborty; Kimberly Gall; Christina Honeywell; Jennifer Milburn; Tim Ramsay; Beth K Potter Journal: Genet Med Date: 2012-08-16 Impact factor: 8.822