Antenatal and postnatal screening Flashcards

1
Q

What does antenatal screening do

A

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 dating scans

A

given at 8-14 weeks which determines pregnancy stage and due date, are used with tests for marker chemicals which vary normally during pregnancy

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3
Q

What are anomaly scans

A

18-20 weeks may detect serious physical abnormalities in the fetus

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4
Q

Why are blood and urine tests carried out throughout pregnancy

A

to monitor the concentrations of marker chemicals

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5
Q

What can measuring a chemical at the wrong time lead to

A

False positive

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6
Q

What can an atypical chemical concentration lead to

A

diagnostic testing to determine if the fetus has a medical condition

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7
Q

What does CVS involve

A

obtaining CVS cells from the placenta

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8
Q

When would CVS be carried out

A

11-13 weeks

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9
Q

Why would a women be offered an CVS

A

if she has a higher risk result from a screening for downsyndrom

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10
Q

What are the risks of CVS

A

there is a 1 to 2 pecent risk of miscarriage

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11
Q

What is amniocentesis

A

amniocenteses cells are obtained from amniotic fluid

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12
Q

When is amniocentesis carried out

A

15-18 weeks

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13
Q

Why would a women be offered an amniocentesis

A

if she has a higher risk result from a screening for downs syndrom

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14
Q

What are the cells from CVS and amniocentesis used for

A

cells are cultures to produce a karyotype to diagnose a range of conditions

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15
Q

What is the risk of amniocentesis

A

1 percent risk of mmiscarriage

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16
Q

measuring the concentration of marker chemicals must be used with what

A

a dating scan

17
Q

What are the advantages of amniocentesis and CVS 1

A

both are difinitive tests for trisomies

18
Q

What occurs during PKU

A

a substitution mutation means that the enzyme which converts phenylalanine to tyrosine is non functional

19
Q

What happens if PKU is not detected soon after birth

A

babys mental development is affected

20
Q

What happens to individuals with high levels of phenlalanine

A

placed on a restricted diet