1461 – Non-invasive prenatal testing for common trisomies (21, 18 and 13)

New MBS item.

Non-Invasive Prenatal Testing (NIPT) that assesses the risk of fetal aneuploidy (specifically trisomies 21, 18, and 13) using an assay of cell-free DNA (cfDNA) in maternal plasma which documents 1) the presence of sufficient cfDNA from the fetus to do an analysis, and 2) the likelihood of fetal aneuploidy. The measurement, reporting and incorporation of fetal fraction into the final probability score is a quality control metric underlying the testing.

Type: Investigative

Trisomy 21 (Down syndrome) is a condition that occurs when an extra chromosome 21 originates in the development of either the sperm or the egg, and is the most frequently occurring clinically significant genetic condition in newborns. It can cause delays in physical and intellectual development. Prenatal testing for Down syndrome is the standard of care, and most women undergo some form of testing. Down syndrome occurs in approximately 1/300 pregnancies and 1/550 newborns.

Trisomy 18 (Edwards syndrome) is due to an extra copy of chromosome 18. It is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have various medical conditions and a shortened lifespan. Edwards syndrome occurs in approximately 1/1,100 pregnancies and 1/5,500 newborns.

Trisomy 13 (Patau syndrome) is due to an extra chromosome 13 and is also associated with a high rate of miscarriage and various abnormalities in surviving fetuses. Expected lifespan of infants with trisomy 13 is extremely reduced. Trisomy 13 occurs in approximately 1/3,000 pregnancies and 1/10,000 newborns.

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