2.4a : Antenatal & Postnatal screening Flashcards

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1
Q

Antenatal Screening

A

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

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2
Q

Dating Scan

A

Measures the due date and takes place between 8 and 14 weeks.

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3
Q

Anomaly Scan

A

May detect serious physical abnormalities and takes place between 18 and 20 weeks.

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4
Q

Blood Tests

A

Carried out throughout pregnancy to monitor the concentrations of marker chemicals.

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5
Q

False Positive Result

A

Measuring a chemical in the blood at the wrong time could lead to a false
positive result (this can happen if the dating scan was inaccurate).

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6
Q

Atypical Chemical Concentration

A

Can lead to diagnostic testing to determine if the foetus has a medical condition.

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7
Q

Diagnostic Testing

A

Used to diagnose a condition (NOT just the risk of one).

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8
Q

Types of Diagnostic Tests

A

Amniocentesis and Chorionic Villus Sampling (CVS).

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9
Q

Amniocentesis

A

When amniotic fluid (which will contain cells from the foetus) is removed from the uterus using a syringe. This has a lower miscarriage risk but is carried out later in the pregnancy.

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10
Q

CVS

A

When a sample of the chorionic villus (part of the placenta) is removed. This can be carried out earlier in the pregnancy but has a higher risk of miscarriage.

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11
Q

Cells from Samples

A

Can be cultured to obtain sufficient cells to produce a karyotype to diagnose a range of conditions.

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12
Q

Karyotype

A

Shows an individual’s chromosomes arranged as homologous pairs.

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13
Q

Postnatal Screening

A

Offered to all babies to monitor their health.

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14
Q

Phenylketonuria (PKU)

A

Detected using a diagnostic test (heel prick test) postnatally.

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15
Q

PKU

A

In PKU a substitution mutation means that the enzyme which converts phenylalanine to tyrosine is non-functional.
PKU is treated by restricting the diet and avoiding phenylalanine.

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