In 2023, Illumina is the unrivalled global leader in gene sequencing. One of Illumina’s key strengths lies in its production-grade sequencing devices, exceptionally well-suited for clinical laboratories and cutting-edge research projects.
All our Labs providers of advanced NIPT operate Illumina’s next-generation sequencing (NGS) platforms. PrenatalSafe, Panorama and UNITY are using DNA analysis instruments produced by Illumina.
We recommend booking NIPT along with our revolutionary 10 Week Scan for a 360 view of your baby’s health.
Illumina VeriSeq NIPT v2 Solution DNA sequencing instruments
Most accurate Down’s syndrome screening test currently available
Advanced structural and chromosomal screening tests from 10 weeks
PrenatalSAFE £540, fast and most accurate advanced NIPT in London ((Illumina NIPT results in 2-4 working days)
SMART TEST £1690, the most extended NIPT and ultrasound package currently available. SMART TEST screens for rare diseases, chromosomal syndromes, microdeletions and structural anomalies.
Scans and NIPT appointment with our fetal medicine specialists with extensive NHS and international experience.
Same day, evening, and weekend appointments
Optional gender reveal included in the price
Latest 3D/4D ultrasound technology
5* rated service on Google, Trustpilot & Doctify
Scan report, videos and images sent straight to your smartphone
Illumina, Inc, an American biotechnology company founded in 1998, specializes in producing high-throughput DNA sequencing systems, commonly called DNA sequencers. They have achieved this position of prominence by building on groundbreaking technology originally developed by the British DNA sequencing company Solexa, based in Cambridge, UK. In a significant move, Illumina acquired Solexa, merging the pioneering DNA analysis capabilities of Solexa with its own expertise.
As of 2021, Illumina commands an impressive 80% share of the global DNA sequencing market, establishing itself as a dominant force in the field. Their commitment to innovation and quality has made them a trusted name in the biotechnology industry.
Illumina’s extensive experience and reputation for producing high-quality equipment extend to noninvasive prenatal testing (NIPT) applications. Their advanced technology plays a pivotal role in ensuring accurate and reliable results in this critical area of healthcare. Our recommended NIPT provider PrenatalSafe based on Illumina’s biotechnology.
For noninvasive prenatal testing (NIPT), Illumina collaborates closely with Hamilton Robotics, enhancing the efficiency and reliability of their technology. This collaboration ensures that Illumina’s advanced sequencing systems, like the VeriSeq NIPT Solution v2, are seamlessly integrated with automated processes provided by Hamilton Robotics. This partnership contributes to the streamlined and high-quality NIPT services that laboratories like Eurofins PrenatalSafe can offer to healthcare professionals and expectant parents.
The Illumina VeriSeq NIPT Solution v2 is a highly advanced and specialized piece of equipment and software developed collaboratively by two prominent American biomedical companies, Illumina and Hamilton Robotics. This technology represents a significant advancement in prenatal testing and is vital in ensuring the accuracy and reliability of noninvasive prenatal testing (NIPT) results.
It’s important to understand that the Illumina VeriSeq NIPT Solution v2 is not a standalone test or a brand name in itself. Instead, it serves as the underlying technology that powers NIPT services provided by various healthcare providers and laboratories. These providers often use their own unique trade names for the tests they offer based on this technology.
For example, Eurofins, a well-established and reputable NIPT provider, has been utilizing the Illumina VeriSeq technology for many years to conduct their NIPT, which they market under the name “PrenatalSafe.” Eurofins’ extensive experience and track record with this equipment have contributed to their reputation.
The VeriSeq NIPT Solution v2 is a complete package for noninvasive prenatal testing (NIPT) using next-generation sequencing (NGS) technology. It includes reagents for DNA extraction, sample preparation, and sequencing. It has an onsite server for secure data storage and analysis and data analysis software capable of generating comprehensive qualitative NIPT results. This automated and reliable system offers rapid turnaround times (26 hours for the cycle), enabling laboratories to process up to 96 samples in approximately one day.
This Illumina NIPT solution provides highly accurate information about fetal chromosomal status as early as 10 weeks of gestation, using just a single maternal blood draw. It offers screening for aneuploidies in all autosomes, chromosomes X & Y, and identifies partial deletions and duplications larger than 7 Mb across the genome. We use this advanced technology in for our SMART TEST. With its high sensitivity and specificity, NGS-based NIPT reduces the need for invasive procedures.
It’s important to note that while the Illumina VeriSeq NIPT Solution v2 is a valuable tool, the accuracy of NIPT tests relies on the laboratory’s expertise and accreditation. Specifically, ISO 15189 accreditation, like that offered by the United Kingdom Accreditation Service (UKAS), is a crucial indicator of quality and reliability.
If a lab has previously struggled with the performance of NIPT tests or lacks accreditation, trust in its results may be questioned. In our evaluation of UK labs using Illumina VeriSeq NIPT Solution v2, PrenatalSafe stands out as a strong choice. Located in the UK, they offer accessibility, accreditation, local expertise, and support in cases of abnormal results, making them a compelling option for accurate and trustworthy NIPT services.
It’s noteworthy that the Illumina VeriSeq NIPT Solution v2 has had such a significant impact on the noninvasive prenatal testing (NIPT) landscape in that it prompted TDL, a long-standing monopolistic provider of Harmony NIPT in the UK, to transition to the technology used by their competitor, Eurofins PrenatalSafe. This move underscores the remarkable capabilities and performance of the VeriSeq NIPT Solution v2.
While TDL may be in the process of adopting this new and advanced technology, it’s reasonable to anticipate that, with time and effort, they may achieve results similar to those demonstrated by Eurofins PrenatalSafe. This transition represents a commitment to providing improved NIPT services and underscores the continuous advancements in the field of prenatal testing.
Expectant parents can look forward to a more competitive landscape in the UK that drives innovation and ultimately benefits patients by offering access to advanced and reliable NIPT options.
Non-invasive prenatal screening is an advanced screening test predominantly for 3 chromosomal anomalies:
- Down’s Syndrome (Trisomy 21 – >99% detection rate)
- Edward’s Syndrome (Trisomy 18 – 97.4% detection rate)
- Patau’s Syndrome (Trisomy 13 – 93.8% detection rate)
The figures above are the published detection rates for the Harmony NIPT.
The test is highly accurate with false positive rates <0.1% for all 3 trisomies. Detection and false positive rates are calculated at a risk cut-off of 1/100. The test can also detect the fetal sex with >99% accuracy.
‘Harmony test‘ is a brand name for Roche’s NIPT. The test was developed by start-up Ariosa (US) more than 10 years ago. Currently the analysis is performed in London by TDL Genetics.
‘Panorama AI’ is a test developed by Natera (US), a pioneer in the field. New upgraded Panorama AI algorithm uses a combination of artificial intelligence (AI) with Natera’s proprietary genetic methodology to improve both accuracy and the positive predictive value for an extended range of genetic conditions. Add-on option of ‘Vistara NIPT’ for single-gene mutations across 30 genes.
Please find a comparison table between the tests below.
Harmony NIPT was for 10 years the go-to test for many clinicians in the UK. In recent years the test lost its shine and very often resulted in failed tests and tubes causing significant delays and anxiety for patients.
As the leading private NIPT provider in London, our medical team has identified this issue with Harmony NIPT in 2021, 2 years before TDL announced Harmony NIPT would be discontinued on 13/09/2023. We set out to find the best alternative, and were very impressed by the technological advancements in some NIPT providers. We found tests which are superior to Harmony from 3 main providers, Panorama Test, PrenatalSAFE and Unity NIPT.
Read more in our Blog post on the discontinuation of Harmony NIPT in the UK.
10 weeks is the best time for your NIPT because:
- You prefer to be reassured regarding Down’s syndrome as early as possible
- We perform your earliest fetal structural anomaly scan at 10 weeks which will exclude severe not-chromosomal defects
- In case of no-call NIPT results of the test you have plenty of time to to retake the test and have alternative screening for Down’s syndrome by Combined Test
- In case of high-chance NIPT results you can perform CVS (invasive test) to confirm or exclude the chromosomal problem at earliest possibility (usually at 11-12 weeks).
- In case of an abnormal finding in our 10 Week Scan, we will assist you in an urgent referral to Fetal Medicine Unit without wasting your time or money for inappropriate NIPT. It is well-recognised that NIPT is unsuitable test in the case of structural fetal anomaly
- It is possible to perform Panorama Test from 9 weeks, however in this case structural assessment of the baby can be limited
Your questions answered
It’s important for us that you understand the terminology we use for screening tests:
Detection rate is defined as the fraction of all patients who have the disease and are called positive by the screening test.
Positive Predictive Value or PPV is the proportion of the ‘true positives’ as proportion of all positive results. As a practical example, the Panorama AI test has a 95% PPV for Down’s Syndrome, meaning that 95% of the fetuses identified as ‘High Probability’ will statistically have the condition. However, the limitation of the test is that in 5% of the cases, it will result in a ‘false negative’ meaning that the test will return a ‘High Probability’ result for a fetus that doesn’t have Down’s Syndrome.
That’s why, for every High Probability result we would refer the patient for a diagnostic test such as CVS or Amniocentesis to verify the results.
In the past there has been confusion about certain aspects of NIPT – please see this notice. If any of the above still unclear to you, please get in touch with us via email or phone and our friendly stuff will be happy to run you through the characteristics of the test.
We wrote a special blog post about understanding the statistics of the NIPT test, if you would like to find out more, click here.
Non-invasive prenatal testing (NIPT) or non-invasive prenatal screening (NIPS) is a screening method for determining the chance that a baby will be born with Down’s syndrome or other chromosomal anomalies. NIPT is based on the assessment of small DNA fragments from a baby’s placenta (named ‘cell-free DNA’ or ‘cfDNA’) that are disseminated in the blood of every pregnant mother. Placental cfDNA is usually identical to the DNA of the baby and testing it provides an opportunity for early detection of particular chromosomal anomalies without harming the baby.
Although cfDNA is a relatively new genetic test, it has been proven to be superior to any other screening tests for Down’s syndrome, including the combined screening test (CST) used by the NHS. However, NIPT can detect a relatively small proportion (about 15%) of all fetal anomalies, because the vast majority of fetal abnormalities are physical (structural) and not chromosomal.
NIPT is a screening test, meaning that NIPT cannot definitively answer whether a baby has Down’s syndrome or other tested chromosomal conditions. If the results are positive (high chance), follow-up invasive testing is needed to get a definite diagnosis. Any invasive testing carries a small risk of miscarriage.
Currently NIPT is not routinely offered by the NHS.
The nuchal translucency (NT) thickness measurements scan was developed in the 1990s, and at the time was the best screening option for Down’s syndrome offering about 62% accuracy and a 5% false positive rate. The NHS now offers the ‘combined test’ at 11-14 weeks which includes a nuchal translucency scan along with a blood test (for PAPP-A and HCG proteins) with improved the accuracy of 81% and false positive rate of 4.5%.
NIPT was first introduced in 2011 and was shown to have superior accuracy to the combined test with a 99.99% detection rate and sub 0.1% false negatives. Please note, we still recommend following through with your NHS antenatal appointments, they are important for the continuity of your pregnancy care.
We offer PrenatalSafe NIPT for the following:
- Down’s syndrome (T21)
- Edwards syndrome (T18)
- Patau syndrome (T13)
- fetal sexing
We recommend taking the NIPT along with our comprehensive early anomaly scan (10-week scan) as soon as possible – 10 weeks. Early detection of either chromosomal or structural anomalies allows more time in terms of pregnancy management for those conditions. If your sample fails, you have plenty time for redraw.
If you’re unsure about the age of your pregnancy, we strongly recommend performing a viability scan with us at around 7-8 weeks of your gestation. The viability scan will date your pregnancy and we can arrange the earliest possible appointment for your NIPT.
If you’d prefer not to have the viability scan, please allow a couple of days after the 10-week mark to avoid repeat appointments for drawing the bloods. You can also miss all the advantages of the 10-week scan, because your baby will be too young to have a proper early anomaly scan.
In theory, NIPT is available from 9-40 weeks, but it is strongly recommended to take the test in the first trimester, as the pregnancy management options in the second trimester can be very limited.
Following your ultrasound scan appointment, you will receive a detail scan report from our doctors, as a hard copy and a PDF version sent to you via our secure cloud system Tricefy.
As soon as we receive your NIPT test results from the laboratory, our clinician reviews the test results and signs them off. One of our friendly clinical staff will then contact you via a phone call to interpret the test results. We will then send you a soft copy of the test results via Tricefy.
The main advantages of NIPT are related to Down’s syndrome (T21) screening.
- early testing from 10 weeks
- high negative predictive value for T21
- high detection rate for T21
- low false-positive rate for T21
As any screening test NIPT has some disadvantages.
Here there are the most significant NIPT limitations:
- relative high cost of the cfDNA test (Harmony Test)
- whilst a very sensitive screening test, it is not diagnostic
- cannot detect ANY physical (structural) anomaly
- very limited effectiveness for the babies that have increased nuchal translucency (NT) thickness or physical (structural) anomaly
- processing time of up to a week (or longer in 5% of the cases) or even 10 days for Invitae NIPS
- failure to return a result in up to 5% of women (‘no-call’ results) which is more common for Harmony Test
In case the NIPT result shows a high chance for Down syndrome or other conditions, our doctor will contact you and explain the further steps we advise to take. We will most likely arrange a referral to your NHS fetal medicine unit for further counselling and possible diagnostic test such as CVS or amniocentesis.
Alternatively, we can refer you to a private fetal medicine consultant (consultation cost is not included in our service).
We will also offer early fetal echocardiography for free (regular cost of the examination £320) for all our patients with high chance NIPT for trisomy 21, Di George syndrome, trisomy 18, trisomy 13 and Turner syndrome.
Most pregnant women receive complete results from cfDNA testing, indicating either a high or low probability for aneuploidy.
In about 3% of cases (much more common with a harmony test) we will need to contact you without giving you a test result and ask you to come in for an additional sample of blood or to give us more information about your pregnancy or medical history. There will be no extra cost for an additional mother’s blood test.
It is because in small proportion of blood specimens submitted after 10 weeks gestation there is an insufficient amount of the baby’s cfDNA. This situation is called low fetal fraction. The chance to have low fetal fraction is getting higher with increased maternal body weight. There are other rare factors making NITP results inconclusive.
In the case of a harmony test no-call result, we will discuss options of alternative screening and/or referral for diagnostic testing if you either decline a second attempt at NIPT or do not receive a result after two attempts.
The harmony scan can only be done from a gestational age of 10 weeks, while panorama NIPT can be done from 9 weeks. TDL/Natera do not accept any blood samples for patients below that gestational age. We recommend waiting until a gestational age of 10 weeks + 2 days (9+4 for panorama) to perform the harmony/panorama scan to avoid having to come in more than once.
In case you booked for a panorama/harmony scan, but the ultrasound scan indicated a GA below 9/10 weeks (respectively), we will have to rearrange for you to come in at a later date for an additional cost of £50 to cover for our staffing cost.
In the case of no-call results from the test (about 3% of the cases), we will be happy to schedule in another time to draw another blood sample free of charge. In case of a second no-call result, we will refund the harmony test portion of the appointment charge as per below. If, upon discussion with our clinician, you decide that the harmony test is not the right decision for you, we will refund the harmony test proportion of the appointment and will only charge for the scan.
In the case of inconclusive results for Downs syndrome or trisomies 18 or 13, we are committed to refunding the harmony test cost.
Because the harmony test is being undertaken by a third party, TDL (The Doctors Laboratory), we will contact them to arrange the refund. The refund will be for the harmony test only (we cannot compensate the cost of ultrasound) and will be processed in a few business days.
There is no reimbursement for inconclusive fetal sex results. In those rare cases we will offer you an anatomy and gender scan for a reduced cost and will discuss the findings and need for further referrals.