1.2.14 CF testing Flashcards

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1
Q

Where do CF sufferers have a high concentration of salt?

A

In their sweat

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2
Q

What do CF sufferers have high levels of in their blood?

A

The protein trypsinogen

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3
Q

What happened in 1989 which lead to the possibility of genetic testing?

A

The gene that codes for the CFTR protein was sequenced

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4
Q

What can genetic testing be used for?

A

Either to confirm a diagnosis or to identify a carrier

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5
Q

What is amniocentesis?

A

A needle is inserted to collect amniotic fluid, which contains cells of placental tissue

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6
Q

What is the disadvantage of amniocentesis?

A

0.5%-1% chance of miscarriage

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7
Q

What is Chronic Villis Sampling (CVS)?

A

A small sample of placental tissue is removed to test. It is taken either from the abdomen or through the vagina

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8
Q

What is the disadvantage of CVS?

A

1% - 2% chance of miscarriage

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9
Q

What is PIGD?

A

PIGD is the testing of an embryo before implantation

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10
Q

What is a disadvantage of PIGD?

A

It is done using IVF, which is very expensive

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