Illumina Test (replaced the Harmony)
The Illumina test is one of the most advanced non-invasive prenatal tests to assess your baby’s risk of Down’s, Edwards’ and Patau’s syndromes. It has replaced the highly popular Harmony test and is this the gold standard in pregnancy screening with a 99% accuracy rate and results available within 2-5 days.
We carry it out by taking a safe and quick blood sample, from as early as 10 weeks into your pregnancy and any time up to 22 weeks. Unlike amniocentesis, it carries no risk of miscarriage.
What does the Illumina prenatal test screen for?
The Illumina prenatal test offers a high degree of reassurance for women who are at risk of chromosomal abnormalities. The test can be done from 10 weeks onwards and tests for the following:
The Illumina test is the most popular non-invasive prenatal screening test among parents, due to its accuracy and reliability. You may hear it referred to generically by your antenatal care team as ‘a non-invasive prenatal test (NIPT)’ or a ‘non-invasive prenatal diagnosis (NIPD)’. However, it’s useful to know that it is not the only prenatal screening test available. Here at the Medical Chambers Kensington, we also offer MaterniT21 and MaterniT Genome tests – both of which also provide high levels of accuracy.
Who is the Illumina test for?
We usually recommend the Illumina test if you are at an increased risk of chromosomal abnormalities. For example:
- If you are over 35
- If you have had a high probability result from a 12 week nuchal translucency scan (combined test) or your 20 week anomaly scan
- If you have had a confirmed chromosomal condition in a previous pregnancy
- There is a family or personal history of genetic abnormalities
Parents with a low risk pregnancy may also wish to have the Illumina test for an accurate prediction of risk of Down’s syndrome – the most common chromosomal abnormality.
When is the best time to have the Illumina prenatal blood test?
You can choose to have the Illumina test from between 10 and 22 weeks of your pregnancy. We recommend having the test at the same time as your early pregnancy ultrasound scan, or 12 week nuchal translucency scan.
This means we can carry out an advanced anatomical examination and check for any major chromosomal anomalies early on in your pregnancy. Alternatively you can choose to come in for your Ilumina blood test at a separate time, that is convenient for you.
Can I have the Illumina test without a scan at The Medical Chambers Kensington?
Our exceptional levels of care mean that we only carry out the Illumina test from 10 weeks onwards and only if your pregnancy is progressing well at that point. Therefore, we always try to combine either your early pregnancy scan (10-11 weeks) or your 12 week nuchal translucency scan with your appointment for the Illumina blood test.
In some cases, we offer the Illumina test even if we haven’t carried out the ultrasound scan at our own clinic. However, if you are less than 13 weeks into your pregnancy, we will ask you to bring the report of your most recent scan, which will have to be no more than 4 days before your blood test.
What to expect when I have the Illumina Test?
We first carry out your ultrasound scan before the blood test, to make sure that your baby is healthy, growing well and has a strong heartbeat. This will usually either be at 10-11 weeks or at 12 weeks.
Once you’ve had your ultrasound scan and had time to discuss the different prenatal test options with one of our specialists, we carry out a simple blood draw from your arm.
The blood sample is then sent off to a state-of-the-art UK laboratory to be analysed and processed within a few days. As it’s a screening test, the Illumina test results show whether you have high, medium or low probability of Down’s, Edwards’ or Patau’s syndrome.
Our prenatal ultrasound specialist will review your results as soon as they arrive and will call you if a high risk is identified. We will also send you and your doctor a copy of your report.
How does the Illumina Prenatal Test work?
During pregnancy, the baby produces tiny amounts of ‘cell free’ DNA, which circulate in the maternal bloodstream. This occurs during the natural breakdown of foetal cells, mainly from the placenta.
By taking a simple blood sample from your arm in early pregnancy, specialists can analyse this DNA in a high specification lab and screen for any abnormalities in the baby’s chromosomes.
The Illumina prenatal test screens for chromosomal conditions called trisomies, which occur when there are three copies of a particular chromosome instead of the usual two. The test screens for trisomy 21 (Down’s syndrome) and trisomy 13 and 18 (Edwards’ and Patau’s syndromes). For more on these chromosomal conditions, please follow this link.
What happens if the Illumina test shows I have a high probability of Down’s syndrome?
We understand how difficult a high probability result may be. Our specialists will phone you with the result and spend as much time as you need answering any questions you have at that point. It is important to remember that whilst the Illumina test is very accurate, like all NIPTs it remains a screening test, not a diagnostic one - for example, false positives and false negatives can occur for a variety of reasons.
Before you make any decisions about how to manage your pregnancy, we always recommend genetic counseling and that any finding should be confirmed by other diagnostic tests, such as CVS (chorionic villus sampling) or amniocentesis.
These tests are the only way to determine with 100% accuracy if your baby has Down’s syndrome or any other chromosomal condition, as they analyse the baby’s chromosomes, rather than the cell-free DNA (cfDNA) in the mother’s blood. However, these tests carry a potential risk of miscarriage.
Make an appointment for a private Illumina prenatal test
If you would like to find out more or make an appointment please call 020 7244 4200 or make an appointment online. No referral is needed.
You can also find a list of our fees and prices here.