Prenatal Chromosomal Screening Pathway
Down Syndrome Victoria’s Prenatal Chromosomal Screening Pathway* is a visual flow chart with attached resources to be used by healthcare clinicians in non-directive counselling with their pregnant patients.
It facilitates an unbiased discussion and informed consent of a woman’s screening and diagnostic options during pregnancy.
You are welcome to download and use this resource in your practice, or share with your health care practitioner.
To view or download the resource, simply click the button below.
Prenatal Chromosomal Screening Pathway*Disclaimer: The information in this resource is general in nature and does not constitute advice. Down Syndrome Victoria will not be held responsible for any decisions made as a result of using this information. The contents of the resource do not constitute medical and legal advice and should not be relied on as such.
What is the tool?
The Prenatal Chromosomal Screening Pathway is a visual tool that health professionals can use to quickly understand prenatal screening options, as well as decision points, discussion points, referrals and relevant resources and services. This information is provided in a visual format to help you and your patient make informed choices around prenatal screening.
Why should you use this tool?
Research shows the majority of families are not receiving best practice healthcare in the prenatal screening space. The majority of families are not given enough information about which conditions are being screened for, reliability of the tests, or the difference between screening and diagnostic tests. In some instances families have reported not being made aware that prenatal testing is a choice.
What is best practice in this space?
- Initiate discussion of prenatal screening as early as possible in the pregnancy to allow ample time for information sharing, decision making, and to facilitate informed choice
- Inform families of the screening pathway, decision points and their implications, to aid informed decision making
- Gain informed consent prior to conducting prenatal screening
- Provide up to date, balanced information about Down syndrome and other conditions screened for
- Deliver information and results objectively, using neutral language such as ‘probability’ or ‘chance’ rather than ‘risk’ to avoid emotive language
- Ensure appropriate referrals throughout the process including to local Down syndrome organisations, peer-support groups, counselling and other support services
- Respect decisions made by families, particularly after a decision has been reached.
What is Down syndrome?
Down syndrome is a genetic condition. People with Down syndrome have 47 chromosomes in their cells. They have an extra chromosome 21, which is why Down syndrome is sometimes referred to as trisomy 21.
People with Down syndrome may have:
- areas of strengths and other areas where they need more support, just like everyone else in the community
- some level of intellectual disability
- some characteristic physical features
- increased risk of some health conditions (many of which are treatable)
- some developmental delays.
Each person with Down syndrome is different and unique.
People with Down syndrome live long, fulfilling lives in the community. People with Down syndrome live into their 60s or longer. People with Down syndrome attend mainstream schools, get jobs, live independently, get married and have relationships.
The NDIS provides people with Down syndrome funding to enable the supports they need.
You can read more about people with Down syndrome here.
References
This tool has drawn together information from the following sources. Please refer to these sources for more detailed information:
- Australian Government Department of Health & Aged Care – Clinical Practice Guidelines: Pregnancy Care
- Royal Australian and New Zealand College of Obstetricians and Gynaecologists statement ‘Prenatal screening and diagnostic testing for foetal chromosomal and genetic conditions‘
- Queensland Government – Prenatal Screening for Chromosomal Conditions Including Down Syndrome Practice Resource
- YourChoice
- Prenatal Screening Awareness – Down Syndrome Queensland
- Down Syndrome Australia – Prenatal Screening for Down Syndrome: A discussion paper October 2021
- National Roadmap for Improving the Health of People with Intellectual Disability
For more information about the Prenatal Chromosomal Screening Pathway, please contact Down Syndrome Victoria on 03 9486 9600 or email info@dsav.asn.au.