2.4 Antenatal and Postnatal Screening Flashcards

1
Q

What does antenatal screening identify?

A

Identifies the risk of a disorder so that further tests and prenatal diagnosis can be offered

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2
Q

What are the two Ultrasound Imaging scans?

A
  • Dating Scans (12-14 weeks)
  • Anomaly Scans (18-20 weeks)
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3
Q

What does a dating scan do?

A
  • Determined pregnancy state and due date
  • Used with tests for marker chemicals which vary normally during pregnancy
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4
Q

What is anomaly scans used for?

A

To detect serious physical abnormalities in the fetus

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5
Q

What are blood and urine tests carried out for?

A

To monitor the concentrations of marker chemicals

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6
Q

What could be the result of measuring a chemical at the wrong time?

A

False positive result

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7
Q

What can an atypical concentration lead to?

A

Diagnostic testing to determine if the fetus had a medical condition

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8
Q

What is diagnostic testing used for?

A

To confirm a chromosomal or gene abnormality of the fetus

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9
Q

What is a karotype?

A

A profile of all the chromosomes arranged into their homologous pairs from one organism

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10
Q

What are the two types of diagnostic testing?

A
  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
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11
Q

What are amniocentesis factors?

A
  • A sample of foetal cells taken from the amniotic fluid
  • Risk of miscarriage
  • Lower risk than CVS
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12
Q

What are the factors of CVS?

A
  • A sample of cells are taken from the placenta
  • Risk of miscarriage
  • Can diagnose earlier compared to amniocentesis
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13
Q

What is autosomal recessive?

A
  • Rare
  • May skip generations
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14
Q

What is autosomal dominant?

A
  • Appears in every generation
  • Affected parent
  • Males and females express trait equally
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15
Q

What is autosomal incomplete dominance?

A
  • Fully expressed form of disorder occurs rarely
  • Males and females equally
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16
Q

What is the only postnatal screening?

A

Phenylketonuria (PKU)

17
Q

What is PKU?

A

A substitution results in a non-functional enzyme which normally converts phenylalanine to tyrosine

18
Q

What can a build up of phenylalanine lead to?

A

Brain damage

19
Q

What is phenylalanine?

A

An amino acid formed in the diet

20
Q

What happens after someone is diagnosed with PKU?

A

They are placed on a restricted diet