Hemel Hempstead, Watford, St Albans NIPT-Non Invasive Prenatal Test The Harmony Test
The Harmony™ Prenatal Test
Covid Pandemic - currently only available at this clinic for women informed to have this by doctor/midwife
The Harmony test (NIPT) is currently the most advanced non-invasive pregnancy screening test for for parents that wish to screen for Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) or Patau’s syndrome (Trisomy 13).
Using a DNA-based technology, the Harmony prenatal test has been shown to identify more than 99% of pregnancies with Down syndrome.
It uses the latest technology to assesses the fetal DNA taken from a simple blood test from the mother and provides a probability for the three most common chromosome disorders, Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).
The Harmony test has a higher positive predictive value (PPV) than the current NHS combined test.
It is a non-invasive test
From 10 weeks, performed by Doctor.
The Harmony Test is processed by The Doctors Laboratory in London. Please see more information about the Harmony Test
No screening test is able to exclude all rare conditions.
Harmony Test from 10 to 40 weeks dating scan
Harmony Test + Early anatomy scan weeks after test
up to 16 weeks
What is the Harmony Test? Who can have the Harmony Test? How much does the Harmony Test cost ?
The Harmony Prenatal Test is a safe test that detects Down’s syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). It is a safe Non Invasive Prenatal Test (NIPT) and has over 99% accuracy in detecting Downs Syndrome. Furthermore, the Harmony Test does not put the pregnancy at risk of miscarriage because it is a simple blood test from the mother. Above all, the Harmony Test may reduce the need for invasive testing with chorionic villous sampling (CVS) or Amniocentesis, procedures that are currently used to diagnose chromosome disorders.
When a woman is pregnant some of the baby’s cells (fetal DNA) enters her blood stream. These fetal cells are detectable during pregnancy and cleared from the blood after delivery. The cells in our bodies contain genetic material (DNA) that determine how we are made up. The DNA is stored in structures called chromosomes.
We have 46 chromosomes (that’s 23 pairs). If an error occurs this can lead to a problem with the chromosomes.Down syndrome is due to an extra copy of chromosome 21 and is associated with some physical and learning disabilities. Edwards syndrome is due to an extra copy of chromosome 18. Patau syndrome is due to an extra copy of chromosome 13.
Edwards syndrome and Patau’s syndrome are associated with severe medical problems and affected babies may not survive pregnancy or die soon after birth.
Whilst every pregnancy has a chance of being affected by a chromosome condition, the risk increases with the age of the mother. The current national screening tests will detect around 70-80% of pregnancies with Down syndrome. The Harmony™Prenatal Test will detect over 99% of fetuses with Down’s syndrome, 97% of fetuses with Edwards syndrome, and 92% of fetuses Patau’s syndrome.
Harmony™ Prenatal Test has a false positive rate of less than 0.1% compared to 5% with conventional screening, so fewer women will be told that they have a high risk when they do not have a high risk. This will reduce the need for invasive testing in many women.
Overall this means that the Harmony™ Prenatal Test detects more pregnancies with Down syndrome but also reduces the risk of unnecessary invasive diagnostic procedures (chorionic villus sampling or amniocentesis).
The Harmony™ Prenatal Test is done from 10 weeks of pregnancy and involves a simple blood test from the mother. It will also accurately identify the baby’s gender, but this will not be disclosed if you do not wish to know.
Who can have the Harmony™ Prenatal Test?
✓ If you are pregnant and wish to have screening or it has not been possible to do the standard NHS test
✓ If you Twin pregnancies
✓ IVF pregnancies including self and non-self donor pregnancies
✓ If you missed your combined or quadruple test
✓ If you had a positive combined or quadruple test result and would like more information while you are making up your mind about undertaking an invasive procedure.
It is important to note that the The Harmony™ Prenatal Test does not replace diagnostic tests such as amniocentesis and chorionic villus sample as those tests are 100% detection. You would still have to consider these to exclude a chromosomal condition.
Does the Harmony Test look for anything else?
The harmony test also offers the option of looking for sex chromosome abnormalities or aneuploidies (SCA) and 22q11.2 deletion screening as an additional option in the Harmony prenatal test menu.
The sex chromosomes (X and Y) determine if we are male or female. Abnormalities can exist with the sex chromosomes resulting in a number of conditions: Monosomy X (a condition called Turner syndrome affecting girls), XXY (a cause of Klinefelter syndrome), XXX, XYY and XXYY. These conditions present in a subtle way or there may learning difficulties, fertility problems and birth defects.
More information about this is available on the Harmony website https://harmonytest.com/en/expecting-parents/conditions/sca.html and includes useful links. If you are considering these tests and also the Harmony test, we suggest discussing with your doctor or healthcare provider to ensure it is the right test for you before taking the screening test. We also recommend discussing the results with your doctor.
22q11.2 deletion is the underlying cause of conditions described as DiGeorge syndrome and velocardiofacial syndrome (VCFS). The test has been shown to identify 75% of pregnancies with a 22q11.2 deletion. Therefore, pregnancies with a known higher risk of 22q11.2 deletion, whether ascertained through ultrasound scan or family history should consider invasive diagnostic testing as this test will not identify 1 in 4 (25%) of cases. The 22q11.2 deletion cannot be requested in twin pregnancies or in pregnancies where the mother has a 22q11.2 duplication or deletion. There is a false-positive rate of up to 0.5%. There is an additional cost of £150 (clinic and lab fee) for this test. More information is available at https://tdlpathology.com/test-information/new-tests/22q-deletion-screening/
If you are considering these tests and also the Harmony test, we suggest discussing with your doctor or healthcare provider to ensure the test is the right test for you before taking the screening test. We also recommend discussing the results with your doctor.
Are there situations where the test cannot be used?
The Harmony™ Prenatal Test cannot be used in a multiple pregnancy if one twin stopped developing at an early stage (a vanishing twin). We would recommend a scan to exclude this in a multiple pregnancy.
The Harmony test is not suitable if the mother has an unusual chromosome rearrangement.
The Harmony test is not suitable for excluding sex chromosome conditions in multiple pregnancies so women with a twin pregnancy are not eligible for sex chromosome aneuploidy or 22q11.2 deletions.
The Harmony test is also not suitable if you have :
A history of or active malignancy;
A pregnancy with fetal demise;
A pregnancy with more than two fetuses;
A history of bone marrow or organ transplants.
When do the results come back?
The results take around 5 to 10 working days to come back. We will inform you of the results by telephone as soon as they are available or face to face if you come for a scan at 12 weeks. We can see you for face to face counselling if you require more information to help you understand the test and the implications of the result.
Who will analyse the Harmony™ Prenatal Test?
We send the blood test with in addition with your consent form to TDL Genetics Limited who will process the sample. The company will comply to confidentiality standards.
What will the results show?
The result may show a low or high risk result. A low risk means it is unlikely that the baby has Downs syndrome, Edwards Syndrome or Patau’s syndrome. Any screening has a risk of a ‘false negative’ or being told the risk is low when it is high. However the risk of this happening with the Harmony Prenatal Test is much lower than with conventional Down screening A high risk result would means that a chorionic villus sample or amniocentesis would be the only way to find out if the baby has Downs syndrome, Edwards syndrome or Patau’s syndrome. A high risk result does not mean that the baby definitely has one of these conditions. Sometimes a repeat rest will be required. This happens in around 3 out of 100 women. You will not be charged for a repeat sample.
Do I need to have any other tests?
The Harmony Prenatal Test does not provide information on other rare chromosomal abnormalities. If structural abnormalities are found at a later stage of pregnancy the risk for chromosomal abnormality will need to be reviewed as it may be higher. We always recommend having an ultrasound scans at 11-13 weeks and at 20-22 weeks to examine the fetal anatomy.
We always suggest discussing with your Healthcare provider before and after you have the test to ensure it is the right test for you.
Please note that if an ultrasound scan is performed but we do not proceed to the NIPT or there is no result for the NIPT, a fee for the scan and advice will remain (minus the lab processing fee) for the appointment.
We always recommend having your usual pregnancy scans with NIPT because fetal structural abnormalities and very rare genetic syndromes will not be picked up by the test.
Can I have the Harmony NIPT Tests available on the NHS?
Currently most NHS hospitals are not offering this. If you are considering antenatal screening, do discuss the NIPT with your healthcare provider as it offers the superior screening compared to the standard NHS 12 week test.