screening &
genetic testing
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- How do you feel about having tests?
- Consider potential costs, availability & access to testing
- If a screening test shows that you may be 'high-risk' of having a baby who may have a condition that causes disability,
what might you choose to do?
- If you get a 'high-risk' result from a screening test, would you want to undergo further testing to confirm?
- If you choose not to test, there is an unknown chance that your baby could have a disability.
How do you feel about that personally?
- Would you like to speak to your doctor more or obtain a referral to a genetic counsellor?
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CARRIER SCREENING
"Pre Pair"
Carrier Screening (Cystic Fibrosis, SMA, Fragile X etc...)
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VCGS Pre-Pair Testing - Order a Saliva Test Kit Here
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RANZCOG - Reproductive Carrier Screening (About)
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Reproductive_carrier_screening fact_sheet (NSW Health)
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PRE NATAL
SCREENING
Pre - Natal Screening (Down syndrome etc...)
MCRI - About Screening Options
MCRI - Interactive Decision Making Tool
Raising Children - How to decide on antenatal tests for chromosomal anomalies and other conditions
Better Health Channel - Maternal Serum Screening
Down syndrome Australia - Prenatal Testing for Down syndrome Fact Sheet
Combined
1st Trimester
Screening
Performed between 9+0 and 13+6 weeks (12 weeks is best).
The out-of-pocket cost range is $92-$120 (in 2022)
If also screening for early-onset pre-eclampsia, your gestation should be between 11+0 and 13+6 weeks.
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Combined
2nd Trimester Screening
Performed between 14+0 and 20+6 weeks gestation (15-17 weeks is best).
Helpful if you missed the time frame for 1st Trimester Screening
The out-of-pocket cost range is $79-$88 (Approx)
NIPT
Screening
My preferred provider is VCGS Percept Test (Approx $450)
VCGS - NIPT Patient Handout (Percept)
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DIAGNOSTIC
Testing
Diagnostic Testing - Formal testing to diagnose genetic conditions
If you have a high risk screening test (see above options including NIPT and combined screening),
you will be offered more formal diagnostic testing such as CVS or Amnio.
You should discuss your eligibility with your doctor.
Better Health - Chorionic Villus Sampling (CVS)
Generally, CVS is offered between 10 and 19 weeks gestation.
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Better Health - Amniocentesis (Amnio)
Amniocentesis is performed between 16 and 20 weeks into the pregnancy.
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Genetic Counselling
Down
Syndrome
Trisomy 21
Down syndrome Australia - Prenatal Testing for Down syndrome Fact Sheet
Centre for Genetics - Down Syndrome Factsheet
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Down Syndrome Diagnosis Network
Support groups - State based – Contact 1300 881 935.