Twin Research and Human Genetics


Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Zornitza Starka1a2, John Massiea2a3a4, Belinda McClarena2, Liane Ioannoua2, Nicole Cousensa2, Sharon Lewisa2, Sylvia Metcalfea2a4 and Martin B. Delatyckia2a4a5 c1

a1 Genetic Health Services Victoria, Parkville VIC, Australia

a2 Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville VIC, Australia

a3 Department of Respiratory Medicine, Royal Children's Hospital, Parkville VIC, Australia

a4 Department of Paediatrics, University of Melbourne, Parkville VIC, Australia

a5 Clinical Genetics, Austin Health, Heidelberg, VIC, Australia


An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) responded, and of these 156 were practicing obstetricians and completed the whole survey. Of the respondents, 83% expressed support for population-based carrier screening for at least some conditions, with 97% supporting carrier screening for β-thalassaemia, and 83% supporting carrier screening for cystic fibrosis (CF). A small proportion of obstetricians reported offering carrier screening as part of routine pregnancy care (20% for β-thalassaemia, 8% for CF, 5% for fragile X syndrome, and 2% for spinal muscular atrophy). The main practical barriers identified for screening were cost, time constraints, and availability of supporting services. Addressing these issues is crucial for the successful implementation of population-based carrier screening programs in Australia and internationally.

(Received May 12 2012)

(Accepted July 22 2012)

(Online publication January 21 2013)


  • carrier screening;
  • cystic fibrosis;
  • thalassaemia;
  • screening programs


c1 Address for correspondence: Professor Martin Delatycki, Director, Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville VIC 3052, Australia. E-mail: