1533 – Genome-wide microarray testing for pregnancies with major foetal structual abnormalities detected by ultrasound

Amendment to MBS item

Extend genome-wide microarray testing (MBS item 73292) to use in one additional population and setting:

• in antenatal testing, when invasive testing is undertaken in pregnancy to investigate a pregnancy where there are major foetal ultrasound abnormalities (in preference to karyotype testing).

Microarray is a general term used for a number of different complex technologies that are used to study the whole genome for both loss of DNA segments (deletion) and gain of DNA segments (duplication). These deletions and duplications are collectively referred to as copy-number variations. Microarray can detect copy-number variations that are too small to be seen by conventional chromosome analysis.

Type: Investigative

Major foetal ultrasound abnormalities can often result from the genotype of the foetus. Investigation can involve invasive testing with karyotype testing often used to identify chromosomal anomalies. The range of medical conditions resulting from genetic abnormalities is broad and encompasses physical and intellectual conditions that can present significantly at birth or later in life. It is therefore difficult to describe the full range of medical conditions that might be detected by micro-array testing.

• PASC meeting: 6 to 7 December 2018
• ESC meeting: 10 to 11 October 2019
• MSAC meeting: 28 to 29 November 2019