Harmony Test

The Harmony test needs a sample of the mother’s blood rather than cells from the placenta or foetal fluid used in traditional methods of testing for foetal genetic abnormalities (Chorionic Villous Sample and Amniocentesis). This is great news for mothers because it eliminates the risk of miscarriage (1 in 100 or 1%) associated with those procedures. It is important that an ultrasound scan is performed just before the blood test to confirm and date the pregnancy, and to check that the mother is not carrying twins or more.

The Harmony test is more than 99% predictive in Down’s syndrome (Trisomy 21), 98% predictive in Edward’s syndrome (Trisomy 18), and 80% predictive in Patau’s syndrome (Trisomy 13). For comparison, the traditional combined test, using a blood test and measurement of the baby’s nuchal translucency by ultrasound, identifies up to 95% of babies with these syndromes.

Any woman who wants extra reassurance regarding the health of the foetus can have the Harmony test, after 10 weeks of pregnancy. This includes those with singleton or twin pregnancies and pregnancies conceived by IVF (including donor conceived pregnancies). The Harmony test is particularly useful for older women (particularly over 40 years) and those who have already had a chromosomally abnormal pregnancy, such as Turners syndrome, often opt for the test. Women who are at particular risk of miscarriage should they have an amniocentesis or chorionic villous sample may also find the test attractive as it avoids an invasive procedure.

You will be seen by a Consultant or Specialist who will go through the test procedures and expectations and answer any questions you may have. You will then be requested to read and sign a consent form (to confirm your understanding of the test) and a data release form (to allow us to send your personal details to the USA). Following this, an internal ultrasound scan will be performed to confirm and date your pregnancy (you will not need to fill your bladder for the ultrasound). An external ultrasound may be performed for pregnancies over 14 weeks. A small blood sample (2 small tubes) will be obtained from the mother’s vein and sent to the USA for cell-free foetal DNA analysis. Please note: you will be given a date to return for the blood test if the scan shows that your pregnancy is earlier than 10 weeks.

Aurora sends your blood sample along with your personal information (including name, date of birth, stage of pregnancy) by courier to The Doctor’s Laboratory (TDL) in the UK who then forward the sample to Ariosa Diagnostics Inc (based in California, USA). Ariosa will perform the cell-free foetal DNA analysis from your blood sample and return the result to us.

The results of the Harmony test will generally be available within 3 weeks.

There needs to be enough cell-free foetal DNA in your blood to be able to provide a result. In 3 to 5% of cases, there is not enough cell-free foetal DNA and another blood sample may be required. This is not a positive or negative test, it is an unsuccessful test. If this happens, an offer of a repeat test is made free of charge. This is usually successful.

The result of the Harmony test is expressed as a high or low risk of genetic abnormalities. A high risk result (such as 1 in 2) indicates that the baby has a high chance or probability of having the condition but as the Harmony test is only a screen you will need to have a CVS or amniocentesis to definitively find out if your baby has one of the syndromes. A low risk result (such as 1 in 10,000) indicates a low chance or probability meaning it is very unlikely that the baby has one of the syndromes; however, not all affected babies will be detected by this test.

The Harmony test generally reports a high risk result of Down’s, Edward’s or Patau’s syndrome in about 1% of women. For comparison, combined screening using a blood test and measurement of the baby’s nuchal translucency by ultrasound (the standard NHS test) gives a high risk result in 5% of women thereby exposing them to the risks of CVS or amniocentesis that carry a 1% risk of miscarriage. Overall, the Harmony test detects more babies with Down’s, Edward’s and Patau’s syndromes, and fewer mothers need a CVS or amniocentesis than with the combined screening test.

We will contact you by telephone and letter. If your result shows a high risk, we will contact you by phone and also offer you a visit to discuss your options, at no additional cost.

The Harmony test does not provide information about other rare chromosomal abnormalities or physical defects such as spina bifida or heart defect, or information about foetal growth. It is therefore advisable that you have all the usual ultrasound scans during your pregnancy.

We offer the Harmony test from about 10 weeks of pregnancy, at a very competitive price of £650. This includes both the ultrasound scan and consultation.

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 Harmony test is negative then it is important that the person conducting the 12 week scan is aware of this. If the Harmony test result is positive, we will be there to offer you counselling. We advise you then return to your NHS unit for further counselling.