Non-invasive prenatal testing (NIPT) analyses cell free DNA in maternal blood and gives a strong indication of whether the baby is at high or low chance a baby having Down’s syndrome or other chromosomal anomalies. There are small fragments of DNA in the mother’s blood that have come from both the mother and the placenta. This is a normal process. If a particular proportion is too high or too low, this indicates that there may be a chromosome condition involving the placenta and, potentially, the developing baby.
Panorama is a Non-invasive prenatal Test offered at the Harley Street Centre for Women and is provided by Natera Laboratories, San Carlos, California, USA. Panorama test can be requested from 9 weeks gestation and it is most commonly used to estimate the likelihood of your baby having Down’s Syndrome, Edward’s Syndrome, Patau’s Syndrome and Triploidy.
We also offer The Aneuploidy+ 22q11.2 deletion panel and Aneuploidy + Full Microdeletion Panel
The Panorama Test also offer screening for the microdeletion 22q11.2 deletion. There are concerns that there is not enough evidence to support screening for this chromosomal condition. The positive predictive value of the condition is much lower than for T21, T18 and T13. Therefore, a low probability result does not guarantee that is a baby is unaffected and some babies with 22q11.2 deletion may receive a Low Probability test result. Additionally, some babies without 22q11.2 deletion may receive a test result of a High Probability leading to unnecessary invasive diagnostic testing that can increase the risk of miscarriage. Please note 22q11.2 deletion panel is not available for twin or donor egg pregnancies.
Panorama NIPT offers screening for 4 additional microdeletions: Prader-Willi Syndrome, Angelman Syndrome, 1p36 Deletion Syndrome and Cri-du-chat Syndrome. As in the case of 22q.11.2 deletion there are concerns that there is not enough evidence to support screening for these rare chromosomal conditions. Please note microdeletion screening is not available for twin or donor egg pregnancies.
Illumina is non-invasive prenatal testing offered at the Harley Street Centre for Women and it is provided by TDL Laboratories, London, UK. The Illumina test be requested from 10 weeks’ gestation to can identify a pregnancy in which the baby is likely to have a chromosome condition such as Down Syndrome (Trisomy 21), Edward’s’ syndrome (Trisomy 18), or Patau syndrome (Trisomy 12) and Sex Chromosome Aneuploidies.
Please note that we stopped offering Harmony test from 14th September 2023. We are committed to providing the highest standard of care and have been made aware of the high ‘no result’ rate from this specific test.
| PANORAMA | ILLUMINA | |
|---|---|---|
| Price | Starting price at £405 | Starting price at £405 |
| When | >9 weeks | >10 weeks |
| Turnaround time | 10 working days | 3-5 working days |
| Laboratory Location | California, USA | London, UK |
| Redraw rate | 1.4% | 2% |
| Fetal fraction cutoff | 2.8% | 2% |
| Trisomy 21, 18, 13 |  |
|
| False negative rate for T21, T18 and T13 | 0.01% | 0.01% |
| False positive rate for T21, T18 and T13 | T21: 5% T18: 9% T13: 32% |
T21: 4.7% T18: 16.6% T13: 33% |
| Di George syndrome (22q del) | |
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| Triploidy | |
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| Twin pregnancies | |
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| Vanishing twin | |
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| Egg donor | |
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| Fetal sex (optional) | |
|
| Advanced microdeletion panel (optional with extra charge) | |
|
NIPT involves only a quick blood draw from your arm; just like any routine blood test you may have done elsewhere. It is completely safe for you and your baby.
Soon after your appointment your sample will be send to the lab, where a technician will look at the DNA in your blood for signs of abnormalities. Now all there’s left to do is to wait for a call from us!
Ultrasound is a vital part of the test as the laboratory requires a confirmation of viability and gestational age by the clinic submitting each NIPT.
It is important for you to realise that the NIPT does not provide information on physical defects, such as heart or brain abnormalities and spina bifida, or fetal growth.
Here at The Harley Street Centre For Woman, our Fetal Medicine Consultants specialise in early detection of fetal anomalies, the fetal heart and the fetal brain. We can detect some severe fetal anomalies as early as 10 weeks. Visit our scans page to find out which scan you will be having along with NIPT
We also offer NIPT test without a scan for patients who have had a scan recently. We will ask you to bring a recent scan report (performed within 2weeks) with the measurements of the baby.
Our fetal medicine consultant will review your scan report and counsel you about NIPT test.
Following your appointment, you will receive a report from our consultants.
As soon as we receive your NIPT test results from the laboratory, our clinicians will review your results and sign them off. We will then call you to inform you of the results over the phone. You will also receive a copy of the results via email.
NIPT cannot be used in pregnancies with:
Please note that IVF pregnancies are eligible for a NIPT
Here there are the most significant NIPT disadvantages:
No, any screening test carries a chance of a ‘false negative’ however the chance of this happening with NIPT is much lower than with conventional screening for Down syndrome and other chromosome conditions.
In case of high risk results our fetal medicine consultant will contact you over the phone and explain to you the results and the further steps we advise to take. We will most likely refer you to your NHS fetal medicine unit for further counselling and possible invasive test such as CVS or amniocentesis. You can also organise CVS or Amnio with one of our consultants privately.
NIPT is a screening test and therefore in rare circumstances positive and negative results can be inaccurate.
The only way to know for sure whether or not a baby has a chromosome abnormality is to have an invasive test such Chorionic Villus Sampling (CVS) or amniocentesis. Invasive testing gives very accurate results because genetic material obtained directly from the pregnancy is used for analysis. However, as these procedures involve inserting a needle into the womb to obtain genetic material, they carry a small but significant risk of causing a miscarriage (1%).
This means that women choosing NIPT will benefit from a test that detects a greater proportion of babies affected by chromosome abnormalities, and women will be less likely to require an invasive test (which carries a 1% chance of miscarriage) following screening.
On rare occasions, it is not possible to issue an NIPT result. This is usually due to the complex biology of pregnancy rather than a failure of the test method.
There is small proportion of blood specimens where 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 higher with low gestation or increased maternal BMI. Sometimes there are technical problems with the analysis of the sample and it does not suggest there is a problem with the baby. We will repeat the test at no cost and are able to get a result in over 50% of cases.
In the case of no-results from the test, we will be happy to schedule a redraw free of charge. If NIPT cannot provide an assessment for the three most common chromosome conditions (trisomy 21, 18 and 13) after one collection of a blood sample (or two, if recommended by the laboratory), we will refund you the cost of the NIPT test (we cannot compensate the cost of ultrasound or counselling)
Please note that there is no reimbursement for inconclusive fetal sex results.
