KA4-Ante- and Postnatal screening Flashcards

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1
Q

What is antenatal screening used for?

A

It it used before pregnancy or during pregnancy. It identifies the risk of a disorder so that further testes and a prenatal diagnosis can be offered.

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2
Q

When and how many ultrasound scans are women given during pregnancy?

A

Women are given two ultrasound scans. A dating scan and a anomaly scan.

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3
Q

Explain what is a dating scan?

A

A dating scan takes place between 8 and 14 weeks to determine pregnancy stage and due date. Dating scans are used with tests for marker chemicals which vary during pregnancy.

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4
Q

Explain what is an anomaly scan?

A

An anomaly scan takes place between 18 and 20 weeks and may detect serious physical abnormalities in the foetus.

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5
Q

Explain why blood and urine tests are takes routinely during pregnancy?

A

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

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6
Q

What could happen if a marker chemical is measured at a wrong time?

A

It could lead to a false positive.

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7
Q

What happens if an atypical chemical concentration is recorded?

A

An atypical concentration can lead to diagnostic testing to determine if the foetus has a medical condition.

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8
Q

What may diagnostic testing be offered for?

A

It may be offered to confirm if the foetus has a medical condition.

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9
Q

What are the two main types of diagnostic testing?

A

Chorionic villus sampling
Amniocentesis

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10
Q

How is chronic villus sampling used?

A

A sample of placental cells are taken and they are cultured for karyotyping.

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11
Q

What is the advantage of chorionic villus sampling?

A

It is carried out earlier in pregnancy than amniocentesis.

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12
Q

What is the disadvantage of chorionic villus sampling?

A

It has a higher risk of miscarriage than amniocentesis.

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13
Q

How is amniocentesis used?

A

A sample of of amniotic fluid is taken and are cultured to produce a karyotype.

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14
Q

What is an advantage of amniocentesis?

A

It has a lower risk of miscarriage than chorionic sampling villus.

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15
Q

What is a disadvantage of amniocentesis?

A

It is carried out later in pregnancy than CVS.

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16
Q

What is postnatal screening?

A

Postnatal screening involves health checks carried out after the birth of the baby.

17
Q

How can phenylketonuria (PKU) be detected?

A

Through diagnostic testing.

18
Q

How can a person have PKU?

A

In PKU, a substitution mutation means that the enzyme which converts phenylalanine to tyrosine is non functional, causing excessive phenylalanine levels.

19
Q

What can high levels of phenylalanine cause?

A

It can build up in the blood and causes mental development to be restricted.