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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.

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 standard disorders covered by NIPT are:

  • trisomy 21 (Down syndrome)
  • trisomy 18 (Edwards syndrome)
  • trisomy 13 (Patau syndrome)

There is the option to screen for fetal sex (no charge); or sex chromosome abnormalities such as monosomy X (Turner syndrome), XXY (Klinefelter syndrome), XYY, XXX and XXYY (no charge); or both.

There is also the option for a genome-wide NIPT screen which covers chromosome macro-duplications and -deletions (larger than seven million base pairs) and rare monosomies and trisomies. This incurs an additional fee.

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 cytogenetic 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.

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. This is particularly important with genome-wide NIPT as the performance, interpretation and management of this test are different to standard NIPT for the common trisomies; for further information, please refer to the NIPT Options technical bulletin. 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 abnormality.

Methodology:

Analysis of millions of fragments of DNA in the maternal plasma provides a measure of the relative abundance of DNA from each chromosome and chromosome segment. The abnormal abundance of a specific chromosome or segment indicates that the fetus may have an abnormality involving that chromosome or segment.

Requesting the test

Ordering:

This test can be requested by any medical practitioner. Before starting to offer this test to patients, doctors are strongly advised to contact the laboratory on 1800 010 447 for advice and 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 where enabled.

Sample required:

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

We recommend that the patient or another adult check the labelling of request form and sample tube.

Special instructions:

Collections must be booked through special collection centres, either at the point of payment on the NIPT portal or 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 the standard screen for the three common trisomies; the options of screening for fetal sex and for sex chromosome abnormalities are available at no additional charge.

Genome-wide NIPT for chromosome duplications/deletions plus rare monosomies and trisomies incurs an additional fee of $70.

This test must be prepaid.

Rebate:

There is no Medicare rebate for this test. 

Click here for our billing policy.