It has been discovered that a blood sample taken from the mother 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 (Harmony NIPT), taken from 10 weeks onwards has a sensitivity for the detection of Downs syndrome greater than 99%, 97.4% of Edwards syndrome and 93.8% of Patau’s syndrome, which may 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. The Harmony test can also be performed for twin pregnancies and can now be used if the pregnancy is conceived with donated egg.
This is one of the most accurate non invasive prenatal tests to detect the chance of a chromosomal abnormality in a pregnancy.
For the last ten years doctors have been using the results of the Nuchal Translucency Scan to advise pregnant women and their partners on 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.
Couples who are anxious about their baby having a chromosomal abnormality such as Downs, Edwards or Patau's syndrome, Women who need it are those who are older (particularly over 40 years), those who have already had a chromosomally abnormal pregnancy or who are at particular risk of miscarriage should they have an amnioncentesis or chronic villious sample (CVS).
The result is available within 3-10 calendar days, the normal turnaround time is 5 working days. There is a 5% chance that there will be no result obtained. There are a variety of reasons for this. If the test is unsuccesful, an offer of a repeat test is made free of charge. 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. An example of a low risk test is shown below. A low risk test result gives a risk of a chromosomal problem of less than 1:10000. A high risk result gives a risk of greater than 99%. A high risk result does not confirm that the baby has the targeted chromosomal condition. An amniocentesis or chorionic villous sampling (CVS) is necessary to give a diagnosis. Genetic councelling is recommended in the case of a high risk.
The Harmony Test costs £500. Appointments after 5pm, weekends and bank holidays incur a £50 surcharge.
Included with every NIPT is an ultrasound by one of our Advanced Sonographers.
NIPT appointments are available with the Consultant on Thursday afternoons. There will be an additional charge of £150.
Depending on how many weeks pregnant you are, we recommend that 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 a chromosomal abnormality). The next routine ultrasound scan performed privately, or within the NHS, is the 20 week anomaly scan. If the Harmony test 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 seen on ultrasound scans, often not until the second or third trimester.
This new test has been developed by Ariosa Diagnostics www.ariosadx.com and is quality controlled by Ariosa Diagnostics.
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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 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