Harmony Down’s Syndrome Test

I am delighted to announce that I can now offer the Harmony Prenatal Test at each of my London clinics. This test has revolutionized antenatal care, and it means that the risk of having a baby with Down’s syndrome can be extremely accurately predicted from a blood test performed at 10 weeks of pregnancy.

In 1989, I worked on a project with Professor Bob Williamson, the distinguished Geneticist on the possibility of developing a screening test for fetal cells in the Maternal Blood and also from the cervix. Unfortunately, our study was not successful. The reference is in my Bibliography. But some 23 years later, the Scientists at Ariosa Diagnostics in the States developed the first successful non-invasive screening test for Chromosomal Defects (Down’s syndrome being the most common).

The team at Ariosa Diagnostics have been able to isolate ‘cell free’ Fetal DNA (the building bricks of chromosomes) taken from the mother at any time from 10 weeks of pregnancy.  What is so exciting is that the result of this simple blood test (Harmony) is able to correctly predict Down’s syndrome in more than 99% of cases.

This will revolutionize antenatal screening. It will significantly reduce the need for invasive testing by CVS or amniocentesis, and is predicted to reduce the need for invasive procedures by over 90%.

The clinical benefits are that it will reduce the risk of miscarriage associated with current invasive testing by either CVS or Amniocentesis. This is great news!

How do we go about booking a test?

  • I will organize an ultrasound on the day of the test to confirm the pregnancy is 10 weeks or more and also to assess for multiple pregnancy (twins, triplets). The test is not used in multiple pregnancies.
  • You and your partner will then have a consultation with me to go through the test, and the blood is then taken.
  • The test is carried out in the USA, and the results are available within 2 weeks.

How much does the Harmony test cost?

The test is currently £600, as it involves an expensive DNA test undertaken in the USA. The 20-minute consultation fee is £100.

Are there problems this test will not detect?

Yes. Structural abnormalities such as Spina Bifida and heart defects will only be seen on scans and often not until later scans. These scans must still be undertaken. Genetic diseases such as Sickle cell and Thalassaemia are currently not being screened for.

This new test has been developed by Ariosa Diagnostics and is quality controlled by Ariosa Diagnostics and The Doctors Laboratory, London. More information can be found on the Ariosa website: www.ariosadx.com