Reproductive Screening Tests in Pregnancy- Accessible Genetic Counselling

This is a free service for people who have received an increased risk result for the combined first trimester screen, non-invasive prenatal testing (NIPT), or genetic carrier screening results.

 

It is a distressing and challenging time when parents receive an increased risk result, especially with the overwhelming amount of information on the internet. While many doctors think NIPT in articular is extremely accurate, it is important to remember it is still just a screening test. In fact:

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Of those who receive a high-risk NIPT result:

  

Trisomy 21 (Down syndrome): About 9 in 10 high-risk results are confirmed

 Trisomy 18 (Edwards syndrome): About 2 in 3 are confirmed

 Trisomy 13 (Patau syndrome): About 1 in 3 are confirmed

 45,X (Turner syndrome): About 3 in 10 are confirmed

 47,XXX (Triple X): About 1 in 2 are confirmed

 47,XXY (Klinefelter syndrome): About 3 in 4 are confirmed

 47,XYY :About 3 in 4 are confirmed

 

In the first instance, we advise you contact the company you had your NIPT test or reproductive carrier screening test through, as they have genetic counsellors trained in their specific tests to counsel you. Click here to download a list of NIPT providers in Australia and contact numbers.

 

However, sometimes more complex decision making assistance is needed, or information localised to Western Australia, and our service hopes to fill that gap.  

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To access this service, please fill your details below and if possible, upload any results you have and I will get back with you with a time on Wednesday evening between 5pm and 7pm. There is the option of a zoom meeting, which is helpful as visual resources can be used, or a phone call.