Non-invasive prenatal test (Harmony)
Also known as: NIPT, NIPS, T21, T18, T13, Trisomy, Down, Edward, Patau, Monosomy, Turner, Klinefelter, Triple X, XYY, 22q11.2 deletion syndrome, Velo-cardio-facial syndrome (VCFS), DiGeorge syndrome, Conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, Cayler cardiofacial syndrome, Sedlackova syndrome, Shprintzen syndrome, CATCH22
Reproductive - Antenatal screen
Use of test
Non-invasive prenatal testing (NIPT) is a test of a pregnant woman's blood to screen for a serious chromosomal disorder in the developing fetus. Screening tests for these abnormalities have been available for a number of decades, but the older screening tests are less accurate than NIPT.
A normal result is usually reassuring regarding the chromosomes tested, but it must be interpreted in the light of other factors which influence the risk of the fetus being chromosomally abnormal. The test has a small risk of providing a false negative result.
An abnormal result MUST be confirmed by invasive cytogenetic testing, for example, amniocentesis as 'false positive' results can occur for biological and technical reasons.
All antenatal tests for fetal conditions raise important issues regarding informed consent from the patient. The requesting practitioner is responsible for obtaining and documenting this consent. The request form requires both requesting doctor and patient to affirm that such consent has been provided.
Sonic Genetics can provide literature to assist these doctor-patient discussions. We can also provide you with a list of genetic counselling services should this be required. Please contact us on 1800 010 447 or at firstname.lastname@example.org.
Sonic Genetics will provide access to a genetic counsellor for eligible patients with a high probability result.
Analysis of millions of fragments of DNA in the maternal plasma provides a measure of the relative abundance of DNA from each chromosome. The abnormal abundance of a specific chromosome suggests that the fetus has a chromosome abnormality.
Requesting the test
This test can be requested by any medical practitioner. Before offering this test to a patient, doctors are strongly advised to contact the laboratory on 1800 010 447 for advice or review the material on our website, Harmony prenatal test.
Download the Harmony request form.
2 x 8.5 ml blood collected into specialised tubes. Samples collected into the common specimen tubes cannot be tested.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.
Collections must be booked through special collection centres by calling 1800 010 447. There may be limits on the days of the week when samples can be collected (to allow for prompt shipping to the laboratory).
There is a specific request form for this test which must be used (above) to ensure that we have the required information about the woman and her pregnancy to provide an accurate result. Please contact us for other ordering options.
Ensure you filter "NIPT/Non-invasive prenatal test".
5-8 business days.
$425 for aneuploidy screen and $495 if 22q deletion included.
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.