Non-invasive prenatal testing (NIPT)

NIPT is a screening test with a very high detection rate for Down syndrome (trisomy 21), it is also sometimes referred to as cell free fetal DNA testing. It will detect 99% of Trisomy 21 fetuses. The results would take 7-10days and there is a 2-4% change of an inconclusive result. A low risk result would be reassuring reducing the risk of aneuploidy to approximately 1 in 10 000, while a high risk result should be confirmed with invasive testing. Unfortunately this is a private test and cost $550 with no Medicare rebate.

Please refer to the Centre for genetic Information(www.genetics.edu.au), factsheet 27 for an up-to-date information sheet for patients.