Antenatal care guidelines review Public consultation draft 22 May 2017 Contents

67.1Practice summary — testing for chromosomal anomalies

When — At the first antenatal visit

Who — 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 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.

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.

67.1.1Resources

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. Some examples are given below. Pamphlets and other information are available from local genetic services and obstetric ultrasound/radiology practices.

Biotechnology Australia (2007) Genetics in Family Medicine The Australian Handbook for GPs. Commonwealth of Australia.

RANZCOG (2015) Prenatal screening and diagnosi of chromosomal and genetic abnormalities in the fetus in pregnancy C-Obs 59. Melbourne: Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

MSHR (2010) Resources developed as a result of Screening for Fetal Anomalies: Views of Indigenous People and their Health Care Providers project.

NSW Health (2007) PD2007_067 Prenatal Testing/Screening for Down Syndrome and other Chromosomal Abnormalities. Sydney: NSW Health.

Nuchal Translucency Online Learning Program

Resources for women and their families

Association for Genetic Support of Australasia

Centre for Genetics Education’s Prenatal Testing – Overview.

Decision Aid for Prenatal Testing for Fetal Abnormalities ―Your Choice: Screening & Diagnostic tests in Pregnancy Murdoch Children‘s Institute

Ottawa Personal Decision Aid

Prenatal Testing – Special tests for your baby during pregnancy.

67.1.2References

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