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NIPT

What is NIPT?

NIPT is a non-invasive prenatal test for pregnant women which estimates the risk of a fetus having Down’s syndrome (T21), Edwards’ syndrome (T18) and Patau’s Syndrome (T13). This an advanced screening test carried out on a small blood sample taken from the mother’s arm with no risk of miscarriage. Fetal sex determination is available optionally.

The IONA® test is a non-invasive prenatal test (NIPT) for pregnant women which estimates the risk of a fetus having Down’s syndrome or some other genetic diseases.

What does the IONA® test screen for?

The IONA®  (NIPT) is an advanced screening test using DNA in the mother’s blood to estimate the risk of a fetus having Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. There are many different NIPTs on the market, but the majority will screen for these three syndromes. Edwards’ and Patau’s syndrome are much rarer than Down’s syndrome but are very serious and many affected babies die before or soon after birth. Trisomies occur when three, instead of the usual two, copies of a chromosome are present.

 

Advantages of the IONA® test?

  • Safe: non-invasive with no risk of miscarriage
  • Fast: results available in 5-7 working days from sample receipt in the laboratory
  • Accurate: Overall 99.8% detection of trisomy conditions (trisomy 21, 18 and 13)

How does it work?

From 10 weeks gestation a small blood sample is taken from the mother’s arm and sent to a local laboratory for analysis with the IONA® test. During pregnancy, the placenta leaks cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal plasma sample contains a mixture of placental and maternal circulating DNA. The DNA from the mother’s blood is extracted and the test is performed on this small amount of DNA.The IONA® test directly measures the amount of cell-free DNA and can detect small changes in the DNA ratio between the maternal and placental-fetal cell-free DNA when a fetal trisomy 21, 18 or 13 is present.

The IONA® Software for analysis calculates the relative amount of chromosomes 21, 18 and 13 to produce a risk score to predict the presence of a trisomy. This figure is then combined with the prior risk (by default this is the mother’s age but the result of the First Trimester Combined Test (FTCT) can be used instead) to calculate the probability of the fetus being affected.

How do I get the most complete prenatal screening?

Traditional screening offered during the first trimester of pregnancy is currently called the combined test. This is an ultrasound scan to measure the nuchal translucency (NT), combined with a blood test. This is less accurate than NIPT, detecting about 85% of babies with Down’s syndrome. The IONA test has a higher detection rate than the combined test.

The IONA test is also better able to exclude false positives. This is when the test reports the baby is at a high risk of having Down’s syndrome but is actually unaffected. The IONA test is much better at ensuring the babies are truly high risk. This allows the doctor to only refer the mother for an invasive test when it is likely the baby is affected.

This means fewer pregnant women will undergo unnecessary invasive follow-up procedure such as amniocentesis or CVS which can be stressful, painful and may carry a small risk of miscarriage.

Results

The results of your IONA® test should be discussed in detail with your healthcare professional.

IONA® test results are reported as:

Low Risk: it is very unlikely the pregnancy is affected by trisomy 21, 18 or 13

High Risk: the pregnancy is at increased risk for trisomy 21, 18 or 13 and the result should be confirmed by a follow-up invasive procedure, such as an amniocentesis or CVS.

No Result: very occasionally there is insufficient placental DNA in the sample to obtain a result. Women may be asked back by the healthcare provider for a further blood sample.

Fetal sex determination

The IONA® test offers optional testing to determine the baby’s sex. A “sex determination failure” result may be reported if there is insufficient data to support the sex determination analysis. A failed result does not reflect on the quality of any other result generated by the IONA® test.  Please note that the sex determining technique is not a screening test for rare sex chromosome conditions and is not currently available for multiple births except for identical (monochorionic) twin pregnancies. We therefore recommend that fetal sex determination is confirmed by ultrasound.

Fetal sex determination is only available for singleton and monochorionic twin pregnancies.

nipt with reassurance & dating scan – £399

30 minute appointment

NIPT is a non-invasive prenatal test – (Blood Test) for pregnant women which estimates the risk of a fetus having Down’s syndrome & chromosomal syndromes with option to determine baby’s gender.

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