1.2.14 CF testing Flashcards
Where do CF sufferers have a high concentration of salt?
In their sweat
What do CF sufferers have high levels of in their blood?
The protein trypsinogen
What happened in 1989 which lead to the possibility of genetic testing?
The gene that codes for the CFTR protein was sequenced
What can genetic testing be used for?
Either to confirm a diagnosis or to identify a carrier
What is amniocentesis?
A needle is inserted to collect amniotic fluid, which contains cells of placental tissue
What is the disadvantage of amniocentesis?
0.5%-1% chance of miscarriage
What is Chronic Villis Sampling (CVS)?
A small sample of placental tissue is removed to test. It is taken either from the abdomen or through the vagina
What is the disadvantage of CVS?
1% - 2% chance of miscarriage
What is PIGD?
PIGD is the testing of an embryo before implantation
What is a disadvantage of PIGD?
It is done using IVF, which is very expensive