Harmony NIPT Test & Scan

Harmony Test Criteria:

Pregnancy must be

• Viable and at least 10 weeks.. 
• Single or twin pregnancy only. 
• Validated for natural conception or IVF conception using your own egg or a donor egg.

• If you have a high BMI have a small chance of not having enough fetal fraction from the test in which case a repeat test is advised in 2-3 weeks at no additional cost.

Ineligibility Criteria:

• You have received an organ transplant.
• You have received a bone marrow transplant.
• You have metastatic cancer
• Vanishing twins

What is the Harmony Test?

The harmony test is one of the latest and leading DNA based non invasive prenatal screening blood test with incredibly high sensitivity for estimating the risk of a fetus with Downs syndrome (a congenital disorder arising from chromosomal defect causing various physical and mental disability). 

The harmony test is regarded as the most accurate screening tests available for Down's syndrome as compared to other traditional tests such as combined screening, which is currently the main method of screening for Down's syndrome offered in the mainstream NHS.

The test has:

• over 99% sensitivity for the detection of Downs syndrome 
• 97.4% of Edwards' syndrome 
• 93.8% of Patau's syndrome. 
• It has a false positive rate of less than 0.1% which reduces the need for invasive testing by CVS or amniocentesis, both of which carry a 1% risk of miscarriage. 

What is the Downs syndrome?

Downs syndrome, also known as Trisomy 21, is a congenital disorder arising from a chromosomal defect during fetal development which causes various physical and mental disabilities. Down's syndrome is typically not inherited - it's simple the result of a one off genetic change in the sperm of egg. In every pregnancy there is a small chance of having a child with Down's syndrome, but the likelihood increases with the age of the mother.

How is the Harmony Test Performed & Analysed?

The Harmony blood test involves taking a blood sample from the mother, just like a routine blood test. The mother must be at least 10 weeks into her pregnancy.

The blood sample is sent and analysed in a specialist laboratory where next generation sequencing techonology, coupled with advanced bioinformatics analysis will detect free floating fetal DNA (cfDNA), which is a marker in the mother's blood of baby's DNA. The resultant information will be generated into a detailed risk analysis report. 

The test has:

• over 99% sensitivity for the detection of Downs syndrome 
• 97.4% of Edwards syndrome 
• 93.8% of Patau's syndrome. 
• It has a false positive rate of less than 0.1% which reduces the need for invasive testing by CVS or amniocentesis, both of which carry a 1% risk of miscarriage. 

This is a relatively new highly accurate alternative to the Downs Syndrome Screening Service provided by the NHS. It has been reported that 1 in 30 women can be given a high result with the NHS combined screening and are advised to undergo an invasive testing such as amniocentesis or chorionic villus sampling (CVS) to determine baby's chromosomal structure. These procedures carry a 1% risk of miscarriage. NIPT is a perfect risk free alternative as there is no risk of miscarriage from this non-invasive test. Furthermore NIPT carries the best detection rate of all screening tests and will detect over 99% of babies affected with Down's syndrome and other chromosomal abnormalities and less than 1 in 3000 women will be given high risk (false positive) screening test results.

While the Harmony test or any other NIPT is NOT classed as a diagnostic test like amniocentesis or CVS it will give you the reassurance to the highest degree possible that you are making the right choices should you need further testing.

What is the primary purpose of this test?

This test is performed to assess the risk of certain chromosomal defects including Trisomy 21 (Downs syndrome).

A scan is also performed in conjunction with the test to confirm fetal viability, how far along the pregnancy is, and if the mother is having twin or multiple babies. We can also provide an estimated due date.

What if I am having Twins?

The Harmony test can be used for twin pregnancy.  It can even be used if the pregnancy is conceived with donated eggs.

It can not be performed for triplets/multiple pregnancy. 

What problems will this test not detect?

This test will not be able to detect structural abnormalities such as spina bifida, heart defects and growth problems. 

Your Results

Your blood will be transported to a UK based Harmony Approved pathology laboratory where they will be analysed and reported. Results for your test will be available in 5-7 days.

The Harmony test results take into account your age, pregnancy gestation and the DNA fraction in the blood sample. The results are shown on a report in a graphically format as either "low or high" risk for the different the trisomies. 

The Harmony test is a screening test. A screening test is one that is performed to identify those that are at higher risk  or more likely to develop a specified disease or condition. It can not however provide confirmation and therefore those identified as having higher risk may need further diagnostic tests.  A diagnostic test is a procedure that can identify a specific condition, disease or illness. 

This test screens for Down's syndrome and two other genetic conditions, trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).  Therefore this test will give you information about the risk your baby has for these specific conditions. 

As with all screening tests, false-positives and false negatives may occur however these are much lower in this test as compared to traditional tests available.

Should you have a high risk result you have the option for further diagnostic tests such as amniocentesis or chorionic villus sampling.

Does the Harmony blood test ever need to be repeated?

Occasionally there is insufficient fetal DNA in the blood sample obtained from mother to obtain a result. Therefore a repeat sample would be need to be collected. This occurs in about 2% of tests with overall no result rate of 3% (2% due to insufficient fetal fraction and 1% due to other reasons). 

If there is a no result from your initial test we would offer one free re-test. 

What is Included?

Harmony Blood test including Viablity & Dating Ultrasound Scan with reports and any measurements.

How do I Prepare for this Test?

• A full bladder may be required for the early pregnancy scan therefore please drink 1 litre of fluid approximately 1 hour before your scheduled appointment and please try your best not to empty your bladder before the examination. An internal scan may also be required for this service.
• Please bring along any information / medical notes / reports which are in relation to the pregnancy as they may provide useful information for the scan.
• We will  require details of your GP / Health Care Professional, which may be requested prior to or at the time of the service.

Related Services

We offer a wide range of pregnancy ultrasound scans as well as blood profiles, please feel free to have a look over the complete range by following the quicklinks below.