1458 – Non-Invasive Prenatal Testing (NIPT)

New MBS item.

Non-invasive prenatal testing through the analysis of cell free fetal DNA is a major technological advancement in testing for fetal aneuploidy. 1-17 

Until recently, obtaining tissue of fetal origin for genetic testing could only be obtained by invasive techniques such as amniocentesis (amniotic fluid samples containing fetal cells mostly of epithelial origin) or chorionic villus sampling (placental samples containing mesodermal connective tissue and trophoblastic cells of the placenta). However DNA from the fetus is found in circulating in maternal blood in intact fetal cells or after the breakdown of cells (mostly placental) as cell free DNA. Only 10-15% of cell free DNA circulating in maternal blood is fetal in origin but this fetal fraction can now be detected and measured.

In NIPT, cell free fetal DNA (cffDNA) is analysed by next generation sequencing (NGS) to detect quantitative differences in the number of DNA fragments of different chromosomes to distinguish fetal aneuploidies from unaffected pregnancies.

Type: Investigative

The medical conditions relevant to the proposed service are conditions such as Down syndrome, Edward syndrome, Patau syndrome and Turner syndrome that arise where the number of chromosomes present in the patient is abnormal (aneuploidy).
Prenatal screening is a routine medical service for a pregnant woman to evaluate her personal risk of fetal aneuploidy. These aneuploidies include but are not limited to; trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome) and monosomy X (Turner syndrome).

This application is for Non-Invasive Prenatal Testing for the detection of fetal aneuploidies to be supported by public funding through the Medicare Benefit Schedule.

• PASC meeting: 8 December 2016
• ESC meeting: -
• MSAC meeting: -