Pregnancy Care Guidelines

Practice summary: testing for chromosomal anomalies

This section looks at the testing for chromosomal anomalies.

53.1 Practice summary


At the first antenatal visit.


  • Midwife
  • GP
  • obstetrician
  • Aboriginal and Torres Strait Islander health worker
  • multicultural health worker
  • genetic counsellor.


  • Discuss the process of testing for chromosomal anomalies
    Explain the purpose, the process involved, the conditions for which testing is available and that it is the woman’s choice whether any tests are carried out.
  • Consider timing
    For women who choose to have combined first trimester testing, make arrangements for the tests to be carried out before 13 weeks and 6 days pregnancy. If a woman elects to have cfDNA testing, this may be conducted from 10 weeks. For women who miss the window for combined first trimester testing and do not have access to cfDNA testing, consider advising maternal serum testing.
  • Offer women with a high-probability result referral to an appropriately trained health professional
    This may assist women in considering options and making decisions about diagnostic testing. If a diagnostic test is carried out and chromosomal anomaly diagnosed, referral for counselling should occur at the earliest opportunity.
  • Learn about locally available resources
    Available testing services and support organisations will vary by location. Be aware of local support groups and counselling services.

53.2 Resources

53.1.1 Health professional resources

Resources available to health professionals include websites and professional organisations, seminars, courses and printed materials, which are regularly revised and updated so that they reflect current practice. Pamphlets and other information are available from local genetic services and obstetric ultrasound/radiology practices.

53.1.2 Resources for women and their families

Centre for Genetics Education

Date last updated:

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