Genetic Screening
Ultrasound Centre for Women offers genetic screening to help individuals and couples gain insight into their reproductive risks.
Genetic Carrier Screening (Prepair)
Prepair provides valuable information about the chance of passing on inherited conditions to your child. It screens for single gene disorders, such as;
- Cystic Fibrosis
- Spinal Muscular Atrophy
- Fragile X Syndrome
Depending on your needs, you can choose between:
- Three Gene Panel – Tests for the three most common conditions. About 1 in 200 couples screen positive.
- Expanded Panel (400+ genes) – Includes the three core conditions plus hundreds more, such as thalassemia and Duchenne muscular dystrophy (DMD). Approximately 1 in 30 reproductive couples screen positive.
Convenient access
- Book a blood test at our clinic, or
- Order through VCGS website at Prepair Carrier Screening for patients – VCGS.
Cost and Medicare rebate
- The Three Gene Panel is eligible for a Medicare rebate.
- Costs vary based on which panel you choose and whether you’re testing as an individual or a couple.
All testing includes:
- Laboratory analysis by leading genetic scientists
- Expert interpretation
Non-Invasive Prenatal Testing – NIPT (Percept)
Percept is a comprehensive, non-invasive prenatal screening test that provides important genetic insights into your developing pregnancy. Using a simple blood sample, percept can be performed from as early as 10 weeks gestation and screens for common chromosomal conditions with high accuracy.
What does percept screen for?
Humans typically have 23 pairs of chromosomes. Percept uses a whole genome sequencing approach to identify whether there are too many or too few copies of these chromosomes, as well as large deletions or duplications.
Common chromosomal conditions screened include:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
Sex chromosome conditions:
- Turner syndrome
- Klinefelter syndrome
- Triple X syndrome
- Jacob syndrome
Percept also provides the fetal sex and can be advised to you upon request.
Why choose UCFW for your NIPT?
Choosing Ultrasound Centre for Women means more than just a test – it’s a complete model of care. Our approach includes:
- A pre-NIPT viability ultrasound for peace of mind, with no out-of-pocket cost to you.
- Access to our experienced team to answer any questions you may have.
Who is percept NIPT for?
Percept is suitable for:
- All women 10 weeks or more into their pregnancy.
- Both singleton and twin pregnancies.
How does NIPT work?
A small sample of your blood is collected, and the cell-free DNA (cfDNA) from both you and your baby is analysed for chromosomal abnormalities. The process is non-invasive, safe and accurate.
Understanding your percept results
NIPT is a screening test, not a diagnostic one. It does not provide a definitive yes or no, but rather an indication of the likelihood of certain chromosomal conditions.
The two types of results:
- Low chance result – Expected number of chromosomes found.
- High chance result – An unusual number of chromosomes detected. This indicates an increased chance of chromosomal condition, but further diagnostic testing, such as a CVS or Amniocentesis, is recommended to confirm.
Our team works closely with your referring obstetrician or doctor to help interpret the results and discuss the next steps if further testing is required.
Fast turnaround
Results are typically reported to us and your doctor within 3-5 working days from when the sample is received at VCGS.
Getting started
Your GP or Obstetrician are the first point of contact to obtain a referral for NIPT. Once you have a referral you can contact our clinic to book:
- A pre-NIPT ultrasound and blood collection appointment.
Or alternatively you can call us directly for more information.
Pre-eclampsia Screening
Pre-eclampsia (PE) is a serious pregnancy complication that can impact both mother and baby. It typically causes high blood pressure and can lead to kidney, liver, or organ damage in the mother. PE is also associated with fetal growth restriction, preterm birth, and increased risk of miscarriage.
- PE affects 2-5% of pregnant women
- Around 1 in 100 may develop early-onset (severe) pre-eclampsia before 37 weeks.
Why early screening matters
PE screening – between 11 and 14 weeks of pregnancy – is crucial as early intervention and management can significantly reduce the risk of severe pre-eclampsia in high-risk pregnancies.
What does pre-eclampsia screening involve?
The screening process is non-invasive and combines clinical, biochemical and ultrasound assessments:
- Blood test measuring:
- PAPP-A (Pregnancy-Associated Plasma Protein A)
- PlGF (Placental Growth Factor)
- Blood pressure management
- Height and weight assessment
- Comprehensive medical history
- Doppler ultrasound to assess blood flow in the uterine arteries
How does the screening work?
Your individual risk for pre-eclampsia is calculated by combining:
- Personal and family medical history
- Biochemical markers (PAPP-A and PlGF)
- Ultrasound results (uterine artery blood flow)
- Blood pressure and physical measurements
This combined approach identifies approximately 75% of women who may develop early-onset pre-eclampsia requiring delivery before 37 weeks.
What if I’m at high risk?
If your screening results indicate an increased risk for PE, your obstetrician or care provider may recommend a regular low-dose aspirin. This treatment is generally safe and has been shown to significantly reduce the risk of severe pre-eclampsia when started early in the pregnancy.
At UCFW we can provide pre-eclampsia screening at the request of your obstetrician or care provider.
Chorionic Villous Sampling (CVS)
Chorionic Villous Sampling is a diagnostic procedure that involves collecting a small sample of placental tissue. As the placenta shares the same genetic material as the fetus, the sample can be tested for chromosomal and genetic conditions.
Who may be offered CVS?
CVS may be recommended if there is an increased chance of a chromosomal or genetic condition in your pregnancy. Common reasons include:
- High risk results from a NIPT or first/second trimester screening
- Increased nuchal translucency or other findings on ultrasound
- A family history of a chromosomal or genetic condition
- Known carrier status for a genetic condition
When is a CVS performed?
CVS is typically carried out between 11 weeks and 13 weeks, 5 days gestation.
How is the procedure performed?
The test is performed in a specialist ultrasound clinic by an Obstetrician Gynaecologist Sonologist. The lower abdomen is cleaned with an antiseptic solution followed by a local anaesthetic to numb the area. While under continuous ultrasound guidance, a fine needle is inserted through the abdominal wall into the placenta to collect a small sample of tissue. The needle does not enter the pregnancy sac, nor touch the baby.
What preparation is needed for a CVS?
Before your appointment, please bring:
- A referral from your doctor or obstetrician.
- Any pregnancy related reports if you have had scans done elsewhere.
We recommend attending with a moderately full bladder, as this can improve access during the procedure. If you’re taking any medication (ie; Aspirin or Clexane in particular) please let the clinic know in advance. We may require you to temporarily stop these medications prior to the procedure.
How is the sample tested?
The collected sample is sent to the VCGS laboratory for analysis. Please be aware, VCGS will be in touch at a later date with the payment information.
The type of testing performed depends on the clinical reason for the procedure. The doctor performing the sample collected will guide you through this process and explain what results to expect.
What happens after the procedure?
- Arrange transport home – it is recommended you don’t drive yourself.
- Rest for the remainer of the day, avoiding heavy lifting and strenuous activity.
- Some mild cramping, similar to period pain, is common once the anaesthetic wears off. Paracetamol can be taken as needed.
- Light vaginal spotting may occur. It is not typically concerning unless it becomes heavier.
However, if you experience:
- Increasing pain
- Heavy, fresh red bleeding
Please contact your obstetrician or care provider immediately.
What are the risks?
The procedure related chance of miscarriage following CVS is approximately 1 in 500 (0.2%) This chance is most often related to infection, which is why strict antiseptic precautions are adhered to.
Most miscarriages, if they occur, happen within 24-48 hours.
Seek medical advise promptly if you experience any of the warning signs listed above.
Amniocentesis
Amniocentesis is a prenatal procedure that involves collecting a small sample of amniotic fluid (the fluid surrounding the fetus). This fluid contains fetal cells, which can be tested for specific chromosomal and genetic conditions, as the cells have the same genetic material as the fetus.
Who is offered amniocentesis?
Amniocentesis may be recommended if there is an increased chance of a fetal genetic or chromosomal condition. This includes:
- High risk results from NIPT or first/second trimester screening.
- Abnormal findings on ultrasound, such as increased nuchal translucency.
- A family history of genetic or chromosomal conditions.
- Parents who are known carriers of a genetic disorder.
When is amniocentesis performed?
This procedure is usually performed after 16 weeks of gestation.
How is the procedure performed?
Firstly, an ultrasound scan is first done to:
- Confirm gestational age
- Assess placental location
- Examine the fetus for any ultrasound markers of abnormalities
The lower abdomen is then cleansed with an alcohol based antiseptic, and under continuous ultrasound guidance, a fine needle is gently inserted through the abdominal wall into the uterus and amniotic sac. Approximately 20mL of amniotic fluid is drawn, which will be naturally replenished by the body within 24 hours.
Generally speaking, the procedure is brief, taking less than a few minutes to collect the sample once the needle is in place.
What preparation is needed?
Please bring the following to your appointment:
- A referral from your doctor
- Any pregnancy related reports if you have had scans done elsewhere
We recommend having a moderately full bladder, as this can improve access during the procedure. If you’re taking any medications (i.e. Aspirin or Clexane in particular) please let the clinic know in advance. We may require you to temporarily stop these medications prior to the procedure.
What happens after the procedure?
- Arrange transport home – it is recommended you don’t drive yourself.
- Rest for the remainer of the day, avoiding heavy lifting and strenuous activity.
- Some mild cramping, similar to period pain, is common once the anaesthetic wears off. Paracetamol can be taken as needed.
- Light vaginal spotting may occur. It is not typically concerning unless it becomes heavier.
However, if you experience:
- Increasing pain
- Heavy, fresh red bleeding
Please contact your obstetrician or care provider immediately.
How is the sample tested?
The collected sample is sent to the VCGS laboratory for analysis. Please be aware, VCGS will be in touch at a later date with the payment information.
The type of testing performed depends on the clinical reason for the procedure. The doctor performing the sample collected will guide you through this process and explain what results to expect.
When will I receive my results?
Most results are available within 10 business days. Our doctor will contact your referring doctor or you to discuss results when they become available. The full laboratory report will also be sent directly to your referring provider.
What are the risks?
The procedure related chance of miscarriage following amniocentesis is approximately 1 in 1000 (0.1%). This chance is most often related to infection, which is why strict antiseptic precautions are adhered to.
Most miscarriages, if they occur, happen within 24-48 hours.
Seek medical advice promptly if you experience any of the warning signs listed above.
