Diagnostic Genetic Testing Flashcards

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1
Q

List 7 prenatal diagnosis techniques.

A
Maternal serum test
Ultrasound
Ultrasound for gender 
isolation of foetal cells from maternal serum
Amniocentesis 
Chronic villus sampling 
Pre-implantation genetic diagnosis
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2
Q

List three non-invasive prenatal testing techniques.

A

Maternal serum tests
Ultrasounds
Ultrasounds for gender
Isolation of foetal cells from maternal serum

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3
Q

List three invasive prenatal techniques.

A

Amniocentesis

Chronic villus sampling

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4
Q

In what cases may prenatal diagnosis take place?

A
Family history
Tested as carriers
Increasing maternal age
Risk of a neural tube disorder
Abnormal results from ultrasounds
Routine
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5
Q

Explain what amniotic fluid alpha-fetoprotein (AFAFP) diagnosis is?

A

Detection of alpha-fetoprotein in the amniotic fluid, high levels of which are associated with NTD.

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6
Q

What is alpha-fetoprotein?

A

Glycoprotein produced by the foetal liver, which circulates in the foetal serum and is later secreted into the amniotic fluid.

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7
Q

What is maternal serum alpha-fetoprotein screening?

A

Non-invasive screening for alpha-fetoprotein using the mother’s serum.

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8
Q

What is Pregnancy associated plasma protein (PAPP-A)?

A

Protein that occurs in decreased quantities during the first semester when pregnancy involves trisomy.

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