Genetic Screening Flashcards

1
Q

What is screened for in the 1st trimester screening?

A

Assess the risk for T21, T18, T13
hCG and PAPP-A
nuchal translucency- (10-14 weeks)

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2
Q

What does nuchal translucency tell you?

A

Likelihood for Downs syndrome

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3
Q

What is the purpose of Chorionic Villus sampling and amniocentesis?

A

Screening tests for triploidy

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4
Q

How can fetal blood be sampled?

A

Needle used to draw umbilical cord blood

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5
Q

What screening is done in the 2nd trimester?

A
Anatomy Ultrasound
(don't do 1st Tri Screening)
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6
Q

What is included in the Quad Screen?

A

AFP
B-hCG
Estriol
Inhibin A

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7
Q

What are indicators of genetic cancer risk?

A

Cancers in 1st degree relatives
Cancer at young age
Cancer in multiple generations
Many Cancers in one individual

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