How Genetic Testing Is Used
Testing Embryos For Genetic Conditions
Amniocentesis
Fetal cells are collected
Can be carried out from 15 to 17 weeks
A needle is inserted into the amniotic fluid
Carries a 1% chance of miscarriage
Chorionic Villus Sampling
Can be carried out from 8 to 12 weeks
A small piece of placental tissue is removed
Carries a 1% - 2% chance of miscarriage
Non Invasive Prenatal Diagnosis
Analyses DNA fragments from blood plasma
Only around 20% of the DNA is from the fetus
Can be carried out from 7 to 9 weeks
Identifying Carriers
Confirming A Diagnosis
Used when there is a family history of CF
Counselling is provided before and after
Any abnormalities can be detected
Allows parents to make an informed decision
A sample of blood or cells is taken
There are many mutations that can cause CF
May be based on a sweat or cell test
A negative result must be treated with caution
It is currently impossible to test for all mutations
Genetic testing can confirm an initial diagnosis
Although 1 in 25 people in the UK carry the Cystic Fibrosis gene, many do not know until they have a child with the disease. Once CF is suspected, there are conventional tests that can be done, to confirm the diagnosis. People suffering from CF have elevated levels of the protein trypsinogen in their blood, which can be tested for. Testing for this protein is part of the Newborn Blood Spot Screening Programme, for all babies born in the UK. An early diagnosis of CF allows treatment to begin immediately, which can be a great improvement to health in later life.