For the last ten years doctors have been using the results of the Nuchal Translucency Scan to advise pregnant women and their partners of their risk of having a baby with Downs syndrome, or other abnormalities. The Nuchal Translucency Scan looks at the skin fold on the back of the baby’s neck at about 12 weeks. This has been further refined by looking at the nose bone of the baby with an additional blood test to identify two pregnancy hormones.
This is the combined test and has achieved a positive predictive value of about 84%. Women with a high risk have an option to proceed to chorion villous sampling (CVS) or amniocentesis. These are invasive tests that carry a miscarriage risk of about 1:100. This is changing now that the NIPT is available. Harmony is marketed by Ariosa Diagnostics and Panorama by Natera inc. They use different techniques. In other countries there are other similar tests available: MaternitT21 by Sequenom CMM, Verifi by Verinata Health and NIFTY by BGI Health.
|HARMONY TEST||PANORAMA TEST||SAFE TEST|
|Available after 10 weeks||Available after 10 weeks||Available from 10 weeks|
|Detection rates %||Detection rates %||Detection rates %|
|›99% T21 (Down’s Syndrome)||›99% T21 (Down’s Syndrome)||›99% T21 (Down’s Syndrome)|
|›97.4% T18 (Edwards Syndrome)||›98.2% T18 (Edwards Syndrome)||92% T18 (Edwards Syndrome)|
|>93.8% T13 (Patau’s Syndrome)||›99% T13 (Patau’s Syndrome)||›99% T13 (Patau’s Syndrome)|
|Optional fetal gender determination >99.9%||Optional fetal gender determination >99.9%||Optional fetal gender determination >95%|
DiGeorge - 95.7%
Dependent on Fetal Fraction (>6%)
|Results in 3-10 calendar days||Results in 7-14 calendar days||Results in 5-10 calendar days|
|Test failure rate of 5%||Test failure rate of 4%||Test failure rate of 3%|
|Fetal fraction % measured||Fetal fraction % measured and integrated into microdeletion sensitivity||Fetal fraction % measured & integrated into risk assessment|
|N/A||Optional analysis of micro deletions at cost of £180||N/A|
|Targeted analysis||Targeted analysis||Targeted analysis|
|Also available in twin, singleton donor.
Not available for vanishing twin
Twin – Sensitivity is reduced
|Not available for vanishing twin, multiple gestation of more than 2 fetuses, or twins conceived using an egg donor or surrogate.
Monozygotic (identical) twins – T21, T18, T13, Monosomy X, triploidy plus sex. Plus 22q11.2.
Dizygotic (non-identical) twins – T21, T18 and T13, plus sex.
Sensitivity is the same as a singleton pregnancy.
Available for single & identical twins; including IVF, egg donor & surrogate pregnancies.
For non-identical (& vanishing) twins test sensitivity is reduced to 95% & above.
It has been discovered that a blood sample taken from the mother at any time from approximately 10 weeks of pregnancy can be analysed for cell free fetal DNA, which is essentially a marker in the mother’s blood of the DNA of the baby. The result of the simple blood test has a detection rate of more than 99% which will hugely reduce the need for invasive testing by CVS or amniocentesis. This is great news for expectant couples. It is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy, and to check if the mother is carrying twins or more. NIPT can now be used in twin, singleton donor and surrogate pregnancies.
Expectant couples who are anxious about their baby having a chromosomal abnormality such as Downs, Edwards or Patau's syndrome. Women who may need it are those that are older (particularly over 40 years), have already had a chromosomally abnormal pregnancy or who are at particular risk of miscarriage should they have an amniocentesis or chorionic villous sample.
The result is usually available within 3-14 calendar days. There is approximately a 5% chance that no result is obtained with Harmony, 4% with Panorama and less than 3% with SAFE test. If the test is unsuccesful an offer of a repeat test is made free of charge. In rare circumstances the result can take longer than 14 days. We understand it can be a stressful time waiting for results and we will endeavour to communicate any delays to our patients as soon as we receive information from the laboratory.
The result is expressed as a probability. This is not a positive or negative test, it is a screening test and not a diagnostic test. A result from of a low risk test is shown below. A low risk test result provides a risk of the targeted chromosomal problems determined as a risk of less than 1:10000. A high risk result does not confirm that a baby has the targeted chromosomal condition. An amniocentesis or chorionic villous sampling (CVS) is necessary to give a diagnosis. Genetic counselling is recommended in the case of a high risk.
There is the option of three different Non Invasive Prenatal Tests (NIPT) at The Birth Company; Panorama Test, Harmony Test and Safe Test, costing from £500 each. Panorama NIPT is the most preferrered option by our patients.
Appointments after 5pm, weekend and bank holiday appointments incur a £50 surcharge.
Included with every NIPT is an ultrasound scan performed by one of our Advanced Sonographers.
NIPT appointments with the Consultant incur an additional charge of £150. Please note Dr Gibb is available on Thursday afternoons.
Depending on how many weeks pregnant you are, we recommend you take the opportunity to have a 12 week scan privately or with the NHS. The focus of the 12 week scan will change as you will already have the result of the Downs syndrome test, so the 12 week scan will look at the baby in detail for structural abnormalities (these may exist without the presence of a chromosomal condition). The next routine ultrasound scan performed privately,or within the NHS, is the 20 week anomaly scan. If the NIPT is low risk then it is important that the person conducting the 12 week scan is aware of this. If the test is high risk then you should return to The Birth Company or your NHS unit for further counselling.
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Yes. Structural abnormalities such as Spina Bifida, heart defects and a poorly growing baby will only be demonstrated on ultrasound scans, often not until the second and third trimester.
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Please note in the circumstance that during your appointment an ultrasound scan is performed but we do not proceed to the NIPT, a fee of £100 (£150 for evening/weekend appointments) will be charged for the appointment only. If booked online, £400 will be refunded to you.
Please note in the instance of a repeat full test failure, the NIPT laboratory fees may be refunded. A fee for the appointment services provided will be retained.
Please note Anticoagulation therapy (commonly called blood thinners) can increase the possibility of receiving No Result for your NIPT. Please leave as long between administering your dose and your NIPT appointment as possible. For example, if you administer in the evening and have an early morning appointment, either change to an appointment late in the day, or refrain from your evening dose. If you administer in the morning, refrain from that dose until after your appointment. If you have any queries regarding this, please contact our team firstname.lastname@example.org.
For further information please see below:
Anticoagulation Therapy Publication
' Professional and reassuring 'Helen Campbell
The sonographer was ready as soon as I arrived, and she was extremely calming, personable and professional. The scan and blood test where efficient without feeling rushed and all very easy. These appointments can feel uneasy and make you feel anxious but I felt reassured and in professional hands the whole time
I saw Kate throughout my first pregnancy and am now doing so again with my second. She is absolutely amazing, she explains everything really clearly, and has answered all sorts of bizarre questions and worries I have had. On top of being clinically excellent she is also just the loveliest person and always a pleasure to see.Sarah Elliott
We had the harmony test with the Birth Company and had a reassurance scan with sonographer Kirsty McGarry who was absolutely lovely and really put our minds at rest. We had been scared by our NHS dating scan and left feeling like there was something wrong. We explained the situation and was treated very professionally and with good care. Also speedy appointments also as I had phone in the morning and got an appointment by afternoon. So thankful.Ashley and Tom
Really friendly, efficient service. Great experience overall. Had the Panorama. My appointment was with Kate who was absolutely fantastic. The results came really quickly. Have a comparison with private healthcare elsewhere and must say that The Birth Company was just how I would like to be treated when I pay for medical services - attentively, calmly, friendly, in a pleasant environment that doesn't look like hospital. Top marks!Anna
' Efficient, friendly and always on hand to provide last minute appointments 'Hannah Murphy
The Birth Company has been excellent, providing timely scans and blood tests during my IVF treatment abroad. Staff are always friendly and extremely efficient. I would highly recommend coming here.
' Professional and friendly 'Lyndsey Dilla
When I first contacted the Birth Company I spoke to Danielle. She was fantastic. She went above & beyond to put me at easy & make the journey from Kent as stress free as possible. Every staff member that myself and my husband have come into contact with have been approachable, professional and friendly. Kate scanned me the first time and put me completely at easy. Lisa on reception is professional and very approachable. Highly recommended
' Highly recommended 'Emelie
Donald was so lovely! I was so nervous as I have a bad history and he was super quick and confirmed my baby's heartbeat as quickly as he could. He spent time showing me the baby and the anatomy and it was the best money I have ever spent! The reception girls were lovely too - considering they deal with babies day in day out they were super excited for me! Thank you so much one and all! If only I lived in London and could have all my scans with you!
Great Portland Street