Prenatal and preconception population carrier screening for cystic fibrosis in Australia: where are we up to?

Aust N Z J Obstet Gynaecol. 2014 Dec;54(6):503-9. doi: 10.1111/ajo.12255. Epub 2014 Oct 28.


Aims: To describe prenatal and preconception population carrier screening for cystic fibrosis (CF) in Australia and consider progress towards establishing a universal program.

Method: Medline and Embase databases (1989-2013) were searched for all publications with Australian data. Existing programs for CF carrier screening in Australia were reviewed and professional peak body websites accessed to determine recommendations.

Results: Twenty-two studies met the inclusion criteria. Key stakeholder groups believe that prenatal and preconception carrier screening for CF should be available. Health-economic analyses support that CF carrier screening can be cost-effective. There are small programs for CF carrier screening, in Victoria, New South Wales and Queensland. The Human Genetics Society of Australasia (HGSA) specifically recommend that screening be offered to women and couples planning a pregnancy and in the early stages of pregnancy. Other peak bodies indirectly endorse the availability of CF carrier screening. Barriers to screening include not being offered screening, the cost of testing, inequity of access and an incorrect perception that not having a family history of CF lowers risk.

Conclusions: There is support for prenatal and preconception CF carrier screening by the community, health professionals and peak professional bodies in Australia. The barriers to development of a national screening program could be overcome with greater physician engagement and government support.

Implications: In the interest of equity, government funded testing should be routinely offered to all pregnant women and couples planning a pregnancy.

Keywords: attitudes; carrier screening; cystic fibrosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Australia
  • Cost-Benefit Analysis
  • Cystic Fibrosis / genetics*
  • Female
  • Genetic Testing* / economics
  • Health Knowledge, Attitudes, Practice*
  • Health Services Accessibility
  • Humans
  • Preconception Care*
  • Pregnancy
  • Prenatal Care*
  • Societies, Medical