53 Practice summary: testing for chromosomal anomalies
This section looks at the testing for chromosomal anomalies.
53.1 Practice summary
At the first antenatal visit.
- 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.
53.1.1 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.
- RANZCOG (2015) Prenatal Screening and Diagnosis of Chromosomal and Genetic Abnormalities in the Fetus in Pregnancy C-Obs 59. Melbourne: Royal Australian and New Zealand College of Obstetricians and Gynaecologists.
- Nuchal Translucency Online Learning Program
53.1.2 Resources for women and their families
- Down Syndrome Australia
- Decision Aid for Prenatal Testing for Fetal Abnormalities ― Your Choice: Screening & Diagnostic tests in Pregnancy Murdoch Children‘s Institute
- Genetic Alliance
- Ottawa Personal Decision Aid
- Support After Fetal Diagnosis of an Abnormality (SAFDA): When your unborn baby has a problem: how to manage the weeks ahead
- Support After Fetal Diagnosis of an Abnormality (SAFDA): The impact, options and afterwards
Centre for Genetics Education
- Screening tests for your baby
- Fact sheet 27 Non-invasive prenatal testing
- Fact sheet 36 Trisomy 21: Down syndrome
- Fact sheet 37 Trisomy 13: Patau syndrome
- Fact sheet 38 Trisomy 18: Edwards syndrome
- Fact sheet 39 Klinefelter syndrome
- Fact sheet 40 Turner syndrome