Antenatal And Postnatal Screening Flashcards

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1
Q

What is the purpose of antenatal screening?

A

Antenatal screening identifies the risk of a disorder so that further tests and a prenatal diagnosis can be offered

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2
Q

What are the two forms of screening?

A

Ultrasound imagining
Blood and urine tests

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3
Q

What are the two types of scans used during antenatal screening?

A

Dating scans and anomaly scans

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4
Q

What are dating scans for?

A

Dating scans determine pregnancy and due date and are used with tests for marker chemicals. This occurs during 8-14 weeks (write 10 weeks for exam)

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5
Q

What are anomaly scans?

A

Anomaly scans detect serious physical abnormalities in the foetus and take place between 18-20 weeks (use 20 weeks for exam)

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6
Q

What are blood and urine tests for?

A

Routine blood and urine tests are carried out throughout pregnancy to monitor the concentrations of marker chemicals.

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7
Q

What could measuring a chemical at the wrong time cause?

A

A false positive result for a medical condition

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8
Q

What can an atypical chemical concentration lead to?

A

Diagnostic testing to determine if the foetus has a medical condition

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9
Q

What can be carried out first, CVS ( chorionic villus sampling ) or Amniocentesis?

A

CVS, although it has a higher risk of miscarriage.

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10
Q

What is the use of amniocentesis or CVS?

A

the use of amniocentesis or CVS is to sample and culture cells in order to obtain a karyotype to diagnose a range of conditions.

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11
Q

What is a karyotype?

A

A karyotype shows an individuals chromosomes arranged as homologous pairs.

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12
Q

What is Postnatal screening used for?

A

To test for phenylketonuria ( PKU )

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13
Q

What is PKU or phenylketonuria?

A

PKU is a substitution mutation meaning that an enzyme which converts phenylalanine to tyrosine is non-functional.

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14
Q

What is recommended for individuals with high levels of phenylalanine with PKU?

A

to be placed on a restricted diet, as PKU causes phenylalanine to not convert to tyrosine but rather toxic metabolites that cause brain damage.

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