Illumina Pre-natal Testing (NIPT)
What is the Illumina Test?
The Illumina Test is a Non Invasive Prenatal Test (NIPT) which analyses the cell free DNA (cfDNA) in the maternal blood and is able to detect the majority of pregnancies affected with Down syndrome.
It is highly successful in screening for the three trisomies: Down’s Syndrome (trisomy 21), Edwards’ Syndrome (trisomy 18) and Patau’s Syndrome (trisomy 13). The detection rates for The Harmony Test are 99% for Down syndrome, 97.4% for Edwards’ syndrome and 93.8% for Patau’s syndrome.
How does the Illumina test work?
The Illumina test is available to be carried out from as early as 10 weeks into the pregnancy and involves an ultrasound scan in order to date the pregnancy and determine whether it is a singleton or multiple pregnancy, and a blood test from the mother.
Who can have the test?
The test can be performed for any singleton or twin pregnancy, including in vitro fertilization (IVF) pregnancies and pregnancies with egg donors.
Should I have the Illumina Test?
If you have concerns about your pregnancy and would like to be tested for Down’s syndrome or any of the other trisomies. The test is risk free as it is non invasive, it can identify 99% of pregnancies affected which means it a more effective screening test than the conventional combined screening test. This will allow many expectant mothers to relax from the early stages of pregnancy.
What does the NHS offer?
The NHS offers the combined screening test, which is performed between 11 weeks and 14 weeks. This test uses a combination of hormones in the mother’s blood and an ultrasound measurement of the nuchal translucency (the area at the back of the fetal neck). These tests give a risk factor for the trisomies and if the risk is calculated as 1 in 150 then further testing will be offered.
NIPT is not routinely offered in all NHS Trusts. The screening tests offered in the NHS should still be performed at the recommended 11-14 week and 20 week stages in pregnancy.
When will I get my results?
Results are normally available within 5 days. We will call you with the results.
Occasionally it will not be possible to obtain a result from the blood sample. In this situation the laboratory will ask for further samples to be taken. There would be no further charge for this.