What is NIPT?
Pregnant women can use the non-invasive prenatal test known as NIPT to determine their fetus’s likelihood of having Down syndrome (T21), Edwards syndrome (T18), or Patau’s syndrome (T13). A tiny blood sample from the mother’s arm was used for this sophisticated screening procedure, which carries no miscarriage risk. The determination of foetal sex is optional.
Pregnant women can use the IONA® test, a non-invasive prenatal test (NIPT) that assesses the likelihood that a foetus will have Down syndrome or another genetic condition.
What does the IONA® test screen for?
The IONA® (NIPT) is a sophisticated screening test that assesses a fetus’s risk of Down’s syndrome, Edwards syndrome, and Patau’s syndrome using DNA from the mother’s blood. While there are numerous NIPTs available, most of them screen for these three disorders. Although much less common than Down syndrome, Edwards and Patau’s syndromes are extremely dangerous, and many affected newborns pass away either before or shortly after birth. When a chromosome has three copies rather than the normal two, it is called a trisomy.
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?
A little blood sample is drawn from the mother’s arm at 10 weeks of pregnancy and delivered to a nearby lab for IONA® test analysis. Cell-free DNA is leaked by the placenta during pregnancy and enters the mother’s circulation. Consequently, circulating DNA from both the mother and the placenta might be found in a maternal plasma sample. A tiny sample of the mother’s DNA is taken, and it is this DNA that is used for the test.When a foetal trisomy 21, 18, or 13 is present, the IONA® test can identify minute variations in the DNA ratio between the maternal and placental-fetal cell-free DNA. It can also assess the amount of cell-free DNA directly.
In order to generate a risk score that indicates the likelihood of a trisomy, the IONA® Software for analysis determines the relative abundance of chromosomes 21, 18, and 13. To determine the likelihood that the foetus would be impacted, this number is then paired with the prior risk, which is often the mother’s age but can also be the outcome of the First Trimester Combined Test (FTCT).
How do I get the most complete prenatal screening?
Today, the combination test is the term used to describe the standard screening that is provided in the first trimester of pregnancy. This is a blood test together with an ultrasound scan to determine the nuchal translucency (NT). With a detection rate of roughly 85% of newborns with Down syndrome, this is less accurate than the NIPT. Compared to the combined test, the IONA test has a greater detection rate.
Additionally, the IONA test has improved false positive exclusion. This is the case where the test indicates that the child has a high probability of having Down syndrome but the child is not impacted. To be sure the newborns are really high risk, the IONA test performs far better. As a result, the doctor can only recommend an intrusive test for the mother when it is most likely that the unborn child is impacted.
This implies that fewer expectant mothers will have needless, invasive follow-up procedures like CVS or amniocentesis, which can be uncomfortable, stressful, and have a tiny chance of miscarriage.
You should have a thorough discussion with your healthcare provider about the results of your IONA® test.
Results of an IONA® test are reported as:
Low Risk: Trisomy 21, 18, or 13 is extremely unlikely to have an impact on the pregnancy.
High Risk: There is a higher chance of trisomy 21, 18, or 13 during this pregnancy. An invasive technique, such as an amniocentesis or CVS, should be performed to confirm the outcome.
No Result: Rarely, there may not be enough placental DNA in the sample to provide a result. The medical professional can urge women to return for another blood sample.
Determination of foetal sex
There is an optional sex test available with the IONA® test. If the sex determination analysis cannot be supported by the available data, a “sex determination failure” result may be reported. The quality of any other result produced by the IONA® test is unaffected by a failed result. Please be aware that, aside from identical (monochorionic) twin pregnancies, the sex-determining procedure is not yet available for multiple births and is not a screening test for unusual sex chromosomal abnormalities. For this reason, we advise using ultrasound to confirm the foetal sex.
Only pregnancies involving singletons and monochorionic twins are eligible for foetal sex determination.
NIPT (non-invasive prenatal test)
nipt with reassurance & dating scan – £450
30 minute appointment
The non-invasive prenatal test known as the “NIPT” (Blood Test) allows expectant mothers to find out the gender of their unborn child as well as the likelihood that the foetus has Down syndrome and other chromosomal abnormalities.