NIPT Testing

Illumina NIPT TESTING (NON-INVASIVE PRENATAL TEST)

Screening for congenital conditions such as Down’s syndrome (T21), Edwards syndrome (T18) and Patau’s syndrome (T13) can be such a difficult decision. It is such a personal choice to make and lots of factors have to be taken into consideration when deciding which path to take. This is why I will always take the time to fully discuss your options and pathways before you decide which screening route if any you would like to take.


Having the choice in screening can sometimes help with making some of those difficult decisions. This is why I am now offering NIPT (non-invasive prenatal test). It is something that is not readily available within the NHS and is generally offered once a woman is given a high chance result following the combined test or Quadruple blood screening test. This means that you would not be offered this test until later in your pregnancy.


The combined test combines an ultrasound scan with a blood test. This is generally done when you have your dating scan from any time between 11-15 weeks. It involves a blood test that measures the hormone hCG and PAPP-A and a scan to looks at Nuchal Translucency (NT) (the skin fold at the back of the baby’s neck, where the spine meets the skull). These two results are combined to give a low chance or high chance result. The combined test has a detection rate of 85% and a false positive rate of 5%.

Sometimes the baby can be in a position that is difficult to see this on scan and so if this is the case you will be offered a quadruple test at 14-20 weeks.


The quadruple test is a blood test and can only test for downs syndrome. This test is less accurate than the combined test and will only detect 80% of babies with Down’s syndrome.


 This means that you will have to wait until 20 weeks for your anomaly scan to look for physical conditions that might indicate Edwards syndrome or Patau’s syndrome. 



As you can imagine for many uncontrollable reasons finding out your risk factor for these conditions can be a lengthy wait and many women find this extremely stressful.

So, what is different about NIPT?


NIPT can be undertaken much earlier than the Combined test and Quadruple test


NIPT is a blood test that can be undertaken from 10 weeks of pregnancy and therefore it is possible to get a result earlier than with the combined test or quadruple test. Please be aware that it is very important that you have had a scan in order to be sure that you are 10 weeks or more and to determine whether you are carrying twins in order to undertake the NIPT test. Results are available between 2-3 working days from the time the laboratory receives your sample. Laboratory is open Monday-Saturday


NIPT has a higher accuracy

The overall accuracy detection rating for trisomy conditions Down’s syndrome (T21), Edwards syndrome (T18) and Patau’s syndrome (T13) is 99.8%. and has a much lower overall false-positive incidence of 0.5% as opposed to 5%. This means that fewer pregnant women will undertake invasive follow up procedures such as amniocentesis or CVS, which can be stressful, uncomfortable and carries a small risk of miscarriage.

FREQUENTLY ASKED QUESTIONS

  • WHAT IS NIPT?

    NIPT is an advanced screening blood test that looks for cell-free DNA which circulates in the maternal bloodstream. During pregnancy this cell-free DNA leaks from the placenta. During testing, this is extracted from maternal blood and can detect small changes in DNA ratio between the maternal and placental-fetal cell-free DNA when a fetal trisomy 21,18 or 13 is present. As with the Combined and Quadruple tests, it is not a diagnostic test. It will give you a low chance or high chance, however, it has a far higher detection rate and a much lower false-positive rate. You also need to be aware that sometimes there is insufficient placental DNA in the sample to obtain a result and if this is the case you may be asked to have a repeat sample, I will always discuss this in further detail with you before undertaking to screen, so that you can make a fully informed choice for screening and understand your options and pathways in regards to results.

  • CAN A NIPT TEST TELL ME THE SEX OF MY BABY

    The IONA NIPT test offers optional testing to determine the sex of your baby. Sometimes there is insufficient data to support the sex determination analysis, however, this does not reflect the quality of any of the other results generated. Please note that fetal sex determination can only be performed on singleton or monochorionic twins.

  • WHO CAN HAVE NIPT?

    10 weeks gestation (confirmed on scan), singleton or twin pregnancy, IVF, donor egg or surrogate pregnancy

  • WHEN IS NIPT NOT SUITABLE?

    You cannot have NIPT if; you have received an organ transplant, you have cancer, you carry a chromosomal imbalance, you have had a transfusion of heterologous cells in the last year, you have a complete or partial monosomy X (Turners syndrome)

  • WHAT SHOULD I EXPECT ON THE DAY OF THE TEST?

    I will come to see you in your own home, where I will fully discuss what the test involves, explain what will happen with your sample, what your results will mean and what your options will be in regards to these results. 

  • WHAT SHOULD I EXPECT WHEN THE RESULTS ARE RECIEVED?

    When your results are received, I will contact you to discuss your results in full. If you have a high chance result then I will go through your options and make referrals for further invasive testing (amniocentesis or CVS) based on your wishes. You will always be given the chance to ask any questions and discuss your worries and wishes going forward.

NIPT Test Cost

£375

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