New blood test for genetic prenatal diagnosis.

Non Invasive Prenatal Testing or NIPT

In 2013, a new maternal blood test became available in Australia which offers a screening test for the following genetic abnormalities in selected patients:

Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Pataus Syndrome) and  
Monosomy X ( Turners Syndrome)

This screening blood test can be taken at 10 weeks from the mother and is sent to the USA for analysis. The result usually takes 10- 14 days. The test can be offered to any woman over 35 at delivery, any woman with ultrasound abnormalities detected on the Nuchal scan, a history of a prior pregnancy affected by Trisomy, if either parent carries an increased risk of having a child with any of  the above genetic abnormalities or on request.

This blood test does not replace the Nuchal or Morphology scan and should be regarded as complementary to these scans, if required, to exclude the above genetic abnormalities where indicated.

Currently there is no Medicare rebate for NIPT screening, and it is conducted in association with genetic counselling usually before or at the time of the Nuchal scan, based on a risk assessment.

At least 99% of Down syndrome foetuses can be detected with a false positive rate of less than 1%. There are no risks associated with having the blood test and if the result is abnormal, an amniocentesis or CVS is recommended to verify the result.

This blood test will be discussed with you at your first visit and if you need further information please don’t hesitate to ask.

For more information please click here