Result in 3-10 calendar days.
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 couples. 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 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, 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 can help avoid an unnecessary invasive procedure.
This is a simple blood test from the vein in the woman's arm like any other blood test. There is no risk to the baby from the mother having this blood test.
Two blood sample tubes need to be collected.
The blood sample tubes are immediately packaged and sent to The Doctors Laboratory in London, improving turn around time.
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. In some circumstances the result can take longer than 10 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 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. 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.
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). Teh next routine 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. many patients choose to upgrade to the comprehensive Gold Package.
Yes. Structural abnormalities such as Spina Bifida, heart defects and a poorly growing baby will only be seen on scans and often not until later scans. These scans should still be undertaken.
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 Anticoagulation therapy (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 admin@thebirthcompany.co.uk.