Nuchal Translucency Testing (Down Syndrome Risk Assessment)

Nuchal translucency screening (or Down Syndrome testing) is an ultrasound examination, which assesses the mother's risk of having a baby with a chromosomal abnormality, especially Down Syndrome.

Points to Consider:

• The vast majority of babies are born normal
• All women, whatever their age, have a small risk of delivering a baby with physical and / or mental handicap
• This ultrasound examination needs to be done early in the pregnancy between 11 weeks 4 days and 13 weeks 6 days
• This ultrasound test involves no needles and is safe
• The test measures the thickness of a fluid collection on the back of the baby's (fetus') neck
• A special computer program (only available in certain places in Australia) then analyses the fluid thickness and calculates a risk of having a Down Syndrome baby 
• Your doctor MAY request that you have blood tests in combination with this examination.  If your doctor requests pathology,  you will need to have the the blood taken 4-7 days prior to your appointment with us
• This test has a sensitivity of about 80% or 90% in combination with pathology tests
• A low risk result does not mean NO risk
• If there is a high risk result then your doctor will be contacted and further tests may be advised.
   

Assessment of Risk

Nuchal translucency thickness is the black space (fluid) in the neck area of the fetus. Findings in more than 100,000 pregnancies have shown that most fetuses have some fluid that can be seen. If there is more than the normal amount, the risk of a chromosomal abnormality is increased. We use a computer program that combines the fetal nuchal translucency thickness and your age to calculate an estimate of your risk.

Your Decision

Depending on the estimated risk you may be happy to continue without further testing. However, you may feel that you want a more definite answer. If the risk estimate is greater than 1 in 300 your doctor will probably recommend an invasive test (chorionic villus sampling or amniocentesis) The advantage of an invasive test is that you get a definite answer.

What Next....

You may choose to have maternal blood serum screening at 16 weeks gestation. This will give you an alternative non-invasive estimate of the risk for Down Syndrome based on biochemical markers in your blood.

In addition to this examination, we recommend that all women have an 18-20 week scan.

Patient Preparation

Two hours prior to your appointment you will need to empty your bladder and drink three glasses (not more than 500mls) of water (not coffee or fruit juice). You need to finish the water at least an hour before the examination. Do not empty your bladder until after the examination.

Examination Locations

Your nuchal translucency ultrasound can be performed at Southport, Burleigh Waters and Tweed Heads clinics. Click here for a detailed list of our clinics and their contact details.