Reproductive Carrier Screening
Reproductive carrier screening (genetic testing) reduces the chance of a genetic condition occurring, without prior knowledge. Most genetic conditions happen for the first time in an individual where there is no family history. Approximately five to seven percent of all pregnancies will have a birth defect, this is the general population risk. Less than one percent of pregnancies will result in a baby with a serious genetic disease, because one or both partners in the couple are healthy carriers of a genetic condition. This is due to what we call, autosomal recessive inheritance.
There are certain options available to couples that want to know if there is a possibility of having a child with a recessive genetic condition.
The best time to have this type of testing is before or early pregnancy.
It is expected that most individuals will be healthy carriers of at least one genetic condition. This is not cause for concern unless both partners in the couple carry a change in the same gene. If this situation arises, counselling will be provided regarding options so individuals and couples can make fully informed choices, pre-conception or in pregnancy.
How is it done?
A saliva sample can be taken at the time of the appointment or a kit is sent to your home. Alternatively you will be given a blood request form for collection at a pathology lab close by.
How do I get my result/s?
This will be discussed with you at your consult, some people like to receive results by phone, others prefer by appointment.
How long will it take?
Plan on getting your result/s within 21 - 28 days if commercial carrier screening.
What if we are both carriers of the same gene?
An appointment will be arranged to discuss what options are available, this can include testing in pregnancy or even testing embryos before pregnancy.
How much does it cost?
Pregnancy Screening
Non-Invasive Prenatal Testing (NIPT)
Private Genetics WA, can facilitate NIPT screening for you or inconjunction with your GP or specialist. Blood collection and 10 week ultrasound can be included in your appointment and covered by medicare (with Dr referral).
percept by VCGS - an expanded and advanced non invasive prenatal test: checks for whole extra or missing chromosomes and deletion or duplication >7mb over all 24 chromosomes.
VCGS advanced NIPT for translocation carriers. Detecting unbalanced or balanced rearrangements inherited from a parent.
Panorama NIPT - standard or micro-deletion panels - twins, triplets, triploidy included.
Harmony by Sonic Genetics - screens for the common aneuploidies (Trisomy 13, 18, 21 and X, Y). Can also check for 22q11.2 micro-deletion (the most common cause of heart defects).
When can I have this test?
A maternal blood test can be performed from 10 weeks pregnancy onwards.
How long will the results take?
Test results are available within 3 -5 working days from receipt of the sample.
What will the test tell me?
NIPT Screening will report whether your baby has an increased or low chance of having a chromosomal condition, such as Down Syndrome (trisomy 21), and other less well known conditions.
What if I get an increased probability result?
Counselling is provided to discuss what this might mean for your baby, what the condition is, and the options available to confirm or exclude the possible diagnosis.
We can assist with understanding and decision-making for what is often a difficult and stressful time in your pregnancy.
What does this test cost?
The test is not covered by medicare or private health cover. Pricing can vary however is ~$400 - $500 depending on the provider plus consult fee.