The IONA® Screening Test
The IONA® Screening Test
Available from 10 weeks of pregnancy
Performed by Dr Bamfo
The IONA® test is a prenatal screening test that can estimate the risk that a fetus being affected by Down's syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18 and Patau's syndrome ( Trisomy 13).
Fetal sex determination is optional if parents to be wish to know the gender or sex of the fetus.
The test is robust and reliable with a >99% detection and < 1% false positive rate for Down's syndrome and similar conditions. The test result comes back as fast as 3 days for a turnaround time from sample receipt. The test is processed by Premaitha Health, a Care Quality Commission (CQC) registered clinical laboratory in Manchester, UK.
It is the only NIPT with the option to incorporate the prior risk from the combined test. The Test is Suitable for twin, IVF, surrogate pregnancies. It is non invasive and safe, so no risk of miscarriage
SAFE, FAST ACCURATE
Specially performed by Dr Bamfo, a Fetal Medicine Specialist
She will discuss the test with you before and discuss the results of the test personally afterwards
Almost total accuracy in detecting Downs syndrome compared to the current NHS Tests
IONA Test at 10 week with dating scan
What is the IONA® test?
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 serious genetic diseases. The IONA ® test is an advanced screening test that is carried out on a small maternal blood sample. Results can be provided within approximately 3-5 days from sample receipt.
The IONA® test estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18), and
Patau’s syndrome syndrome (Trisomy 13).
Fetal sex determination is optional if you would like to know the gender. (for singleton pregnancies)
During pregnancy, the placenta leaks fetal cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal blood sample contains a mixture of fetal and maternal circulating DNA. The IONA® test directly measures the amount of this cell-free DNA and can detect small changes in the chromosomal ratios when fetal trisomy 21, 18 or 13 is present. The IONA® test employs the latest advanced technology to provide a risk.
Key features of the IONA® test:
Results available in 3-5 days from sample receipt
Care Quality Commission (CQC) registered clinical laboratory
European CE-marked in vitro diagnostic assay
Quality: The IONA® test is a regulated test, which is CE marked.
The only NIPT with the option to incorporate the prior risk from the combined test
>99% detection rate and <1% false positive rate
Low re-draw rate of <0.5%
Measures fetal fraction, requiring as little as ≥2%
Trisomies occur when three, instead of the usual two, copies of a chromosome are present. Edwards’ and Patau’s syndromes are much rarer than Down’s but are very serious and many affected babies do not survive.
If fetal sex determination is requested, the accuracy is greater than 99%. In rare cases a “sex determination failure” result may be reported if there is insufficient data to support the sex determination analysis. A “sex determination failure“ does not impact the trisomy result.
How does it work?
During pregnancy, the placenta leaks cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal blood sample contains
a mixture of fetal-placental and maternal circulating cell-free DNA. The IONA® test directly measures the amount of this cell-free DNA and can detect small changes in the DNA ratio between the maternal and fetal cell-free DNA when a fetal trisomy 21, 18 or 13 is present.
How do I get the most complete prenatal screening?
Traditional first trimester screening offered during pregnancy is called the First Trimester Combined Test (FTCT). This is an ultrasound scan to measure the nuchal translucency (NT) and a blood test. This method is less accurate for detecting fetal trisomies (85-90%), but can help with the early detection of both maternal and fetal complications. The IONA® test is the only NIPT that has the option to incorporate the result of the FTCT into the calculation to get you the most comprehensive and tailored prenatal screen. You can still get accurate trisomy screening even without the FTCT result. Many women choose to have an IONA® test from 10 weeks gestation following an ultrasound, which is an essential requirement for IONA®. The IONA® test has a higher detection rate than the current FTCT offered to pregnant women. This means that fewer pregnant women will undergo unnecessary invasive follow-up procedures such as amniocentesis or CVSwhich can be stressful, painful and may carry a small risk of miscarriage.
There are several different NIPT tests on the market and at first look they can all appear similar. But they utilise different technologies to count the fetal (placental) DNA to detect the trisomy and they differ in the way that they generate the test results. The IONA® test takes into account the mothers age and when combined with the fetal DNA result it gives a probability of a fetus being affected. For most fertility treatments that include a donor egg or surrogate, it is important to take into account the age of the egg donor at the point of donation, not the mother, to give the most accurate screening result.
Who can have the IONA® test?
The IONA® test is available for singleton and twin pregnancies and also fertility assisted pregnancies including surrogates, donor or IVF pregnancies. The IONA® test is suitable for women who are at least 10 weeks pregnant.
The IONA® test is suitable for twin pregnancies. However, in dichorionic (non-identical) twins, the test sensitivity is reduced from >99% to about 95%. The IONA® Software uses a specific proprietary algorithm iteration for dichorionic twins, but it will not distinguish which twin is high risk.
For ‘vanishing twin’, the test is possible but the sensitivity of the test is reduced and has to be done at least 8 weeks after the vanishing twin was noted. Contact us for more information about this.
Who is the IONA® test not suitable for?
Unsuitable if the mother has:
Undergone Stem Cell Therapy or Immunotherapy
Received a blood transfusion in the last 12 months
Received an organ transplant
Is taking a low molecular weight heparin then this could lead to an invalid result.
Triplets or higher order multiples
How are the IONA® results reported?
The relative amount of chromosomes 21, 18 and 13 are used to calculate a risk score to predict the presence of a trisomy. This is then modifed according to the prior risk of the mother such as maternal age or combined test result and an adjusted probability calculated for the fetus being affected.
Low risk: It is very unlikely your pregnancy is a affected by trisomy 21, 18 or 13.
High risk: Your 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 amniocentesis.
No result: In rare cases there is insufficient fetal DNA in the sample to obtain a result. You may be asked by for an additional blood sample.
How is the IONA® Test done?
A maternal blood sample of 10mL is taken from 10 weeks gestation and is collected and samples are sent via Royal Mail (UK) to the Premaitha NIPT Clinical Laboratory in Manchester, UK.
How much does the IONA® Test cost?
It costs £500
This includes pre-test and post-test counselling.
Please note that if an ultrasound scan is performed but we do not proceed to the NIPT or there is no result for the NIPT, a fee for the scan and counselling will remain (minus the lab processing fee) for the appointment.
We always recommend having your usual pregnancy scans with NIPT because fetal structural abnormalities and very rare genetic syndromes will not be picked up by the test.