Harmony Test Edinburgh

With the advances in genetic medicine cell free foetal DNA which is present in the mother’s blood from early pregnancy, can now be used to sequence the DNA of the baby to check for genetic abnormalities. This is as simple as taking a blood sample from the mother and it being sent away for lab testing. This is huge leap in genetics testing as this test only requires a simple non invasive blood sample from the mother.
The Harmony test can be performed from 10 weeks gestation. The test includes an ultrasound which is performed prior to the bloods being taken. The purpose of the scan is to date the pregnancy, check that it is a viable pregnancy and also check for the presence of two or more foetuses.
The Harmony test is the most frequently performed non-invasive prenatal test which uses ‘targeted sequencing’ where they analyse fragments from specific chromosomes, this targeted analysis gives an accurate risk assessment of trisomy 21, (Down’s Syndrome) 18 (Edwards Syndrome) and 13 (Patau Syndrome. )
With Harmony there is also the option to test for abnormalities of the sex chromosomes, there is normally 2 sex chromosomes either XX – female or XY – male. However abnormalities arise when you receive 1, 3, or even 4 chromosomes. Monosomy X is where you only receive one X chromosome, this is also know as Turners Syndrome. Trisomy of the sex chromosomes is where you receive three chromosomes either XXX (Triple X syndrome) or XXY also know as Klienfelters syndrome. It is also possible to receive 4 sex chromosomes XXYY.

With the advances in genetic medicine cell free foetal DNA which is present in the mother’s blood from early pregnancy, can now be used to sequence the DNA of the baby to check for genetic abnormalities. This is as simple as taking a blood sample from the mother and it being sent away for lab testing. This is huge leap in genetics testing as this test only requires a simple non invasive blood sample from the mother.
The Harmony test can be performed from 10 weeks gestation. The test includes an ultrasound which is performed prior to the bloods being taken. The purpose of the scan is to date the pregnancy, check that it is a viable pregnancy and also check for the presence of two or more foetuses.
The Harmony test is the most frequently performed non-invasive prenatal test which uses ‘targeted sequencing’ where they analyse fragments from specific chromosomes, this targeted analysis gives an accurate risk assessment of trisomy 21, (Down’s Syndrome) 18 (Edwards Syndrome) and 13 (Patau Syndrome. )
With Harmony there is also the option to test for abnormalities of the sex chromosomes, there is normally 2 sex chromosomes either XX – female or XY – male. However abnormalities arise when you receive 1, 3, or even 4 chromosomes. Monosomy X is where you only receive one X chromosome, this is also know as Turners Syndrome. Trisomy of the sex chromosomes is where you receive three chromosomes either XXX (Triple X syndrome) or XXY also know as Klienfelters syndrome. It is also possible to receive 4 sex chromosomes XXYY.