It has been discovered that a blood sample taken from the mother at any time from 9 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 (Panorama) has a detection rate of more than 99% in Down’s syndrome, Edwards syndrome and Patau’s syndrome, which will hugely reduce the need for invasive testing by CVS or amniocentesis. It can also be used to detect other chromosomal abnormalities such as Turners syndrome and Triploidy and has a detection rate of more than 92%.
This is great news for couples because it eliminates the risk of miscarriage of the pregnancy. It is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy, and to check that the mother is not carrying twins or more. The Panorama test is not available in twin or donor pregnancies. The result of the Panorama has a detection rate of more than 99%.
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 a chromosomal abnormality such as Down syndrome, or other abnormalities (Edwards, Patau’s, Turners syndrome and Triploidy). 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 predictive value of about 84% for Downs syndrome. 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. Microdeletions are avaialable with Panorama.
This test is done to look for several rare but serious conditions which are not related to maternal age. In our patients 97 out of 100 cases get a reassuring low risk result. However there is a possibility there will be no result in about 2 in 100. There is a 1 in 100 chance that there will be a high risk result for Microdeletions. Remember that in this case there will already be a low risk for Down’s syndrome. A high risk result will cause anxiety and indeed it may lead to a decision for an invasive test such as amniocentesis or chronic villous sample. The chance of such a test confirming that the child is affected or indeed the child being born with the condition is only 1 in 20. The quantity fetal fraction detected in the blood sample affects the detection rate for microdeletion screening.
Anyone who wants extra reassurance about their pregnancy can have the test. Women who may need it are those who are anxious about their baby having a chromosomal abnormality such as Downs, Edwards or Patau's syndrome, Older women (particularly over 40 years) and those who have already had a chromosomally abnormal pregnancy often opt for the test. Those who are at particular risk of miscarriage should they have an amniocentesis or chorionic villous sample, also find the test very attractive as it avoids an invasive procedure. It is helpful for those who have had a previous sex chromosome abnormality such as Turners syndrome. Analysis of Microdeletions is particularly uselful for women of any age concerned about this issue. When a fetus has a heart defect or is not growing well this may be clinically indicated.
The result is usually available within 7-14 working days. There is a 2% chance that no result is obtained. This is not a positive or negative test: it is an unsuccessful test. An offer of a repeat test is made free of charge. This is usually successful. 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 endevour to communicate any delays to our patients as soon as we receive information from the laboratory.
The result is expressed as a probability. It is a screening test and not a diagnostic test. A result form 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 chromosome abnormality. An amniocentesis or chorionic villous sampling is necessary to give a diagnosis. The couple are counselled about this.
The test is currently £500 including the ultrasound scan on a weekday or £550 on the weekend. If you would like to add Microdeletions the cost will be £680. Appointments after 5.00pm carry a £30 surcharge.
Depending on how many weeks pregnant you are, you will still have 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). You will still have the opportunity to have the later scans, such as the 20 weeks scan, as before. If the Panorama 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 a good NHS unit for further counselling.
Yes. Structural abnormalities such as abnormal limbs, spina bifida, heart defects and a poorly growing baby will only be seen on scans and sometimes not until later scans. These scans should still be undertaken.
This new test has been developed by Natera Inc., San Carlos, California.
' 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