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Non-invasive prenatal test (NIPT)

Also known as: NIPT, NIPS, Harmony, VeriSeq, 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

Test category:

Reproductive - Antenatal screen

Use of test

Purpose:

Non-invasive prenatal testing is a test of a pregnant woman's blood to screen for various chromosomal disorders in the developing fetus. The disorders covered by this NIPT include:

  • trisomy 21 (Down syndrome)
  • trisomy 18 (Edwards syndrome)
  • trisomy 13 (Patau syndrome)
  • option to screen for sex chromosome aneuploidies, including XO (Turner syndrome), XXY (Klinefelter syndrome), XYY (Jacobs syndrome), XXX (triple X) and XXYY
  • option to screen for 22q11.2 microdeletion syndrome (DiGeorge syndrome, or velocardiofacial syndrome).

Screening tests for some of these disorders have been available for a number of decades, but the older screening tests are less accurate than NIPT. 

There is also an option for NIPT assessment of fetal sex.

Utility:

A result indicating low probability of a specific disorder is usually reassuring regarding that disorder, but it must be interpreted in the light of other factors which influence the risk of the fetus having abnormal chromosomes. There is always a small chance of an NIPT result being a false negative.

A result indicating high probability of a specific disorder should be confirmed by invasive cytogenetic testing, for example, CVS or amniocentesis with karyotype analysis, before making major decisions regarding the pregnancy. There is always a chance of an NIPT result being a false positive.

False negative and false positive results may occur with any form of NIPT. They can be due to placental mosaicism i.e. to the complex biology of pregnancy, rather than reflecting technical flaws in the design or delivery of NIPT.

Sonic Genetics uses a number of platforms to provide NIPT.

You will find further information for doctors and patients about the test in our dedicated section on NIPT.

 

Ethical considerations:

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 the requesting doctor and the 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 info@sonicgenetics.com.au.

Sonic Genetics offers free genetic counselling for eligible patients who receive a result indicating a high probability of a chromosome disorder.

 

Methodology:

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 or chromosome segment indicates that the fetus may have an abnormality involving that chromosome.

Requesting the test

Ordering:

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 information for doctors on our website.

Request form:

A special request form is required. We cannot accept a request for NIPT on a standard request form. Download the NIPT request form  or order via your Practice Management Software (coming soon) where enabled.

Sample required:

Blood collected into two specialised NIPT tubes. Samples collected into the common specimen tubes cannot be tested.

We recommend that the patient or another adult check the labelling of request forms and sample tubes.

Special instructions:

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.

>Link to Sonic Healthcare collection centres

Ensure you filter "NIPT/Non-invasive prenatal test".

Turnaround time:

3-8 business days.

Price:

$425 for aneuploidy screen and $495 if 22q deletion included.

Rebate:

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Click here for our billing policy.