2.4 Flashcards

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1
Q

what are antenatal screening methods used to do

A

to identify the risk of disorders in a foetus or embryo before it’s born

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2
Q

when are dating scans carried out

A

at 8-14 weeks

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3
Q

what do dating scans do

A

determine the pregnancy stage and due date

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4
Q

when are anomaly scans carried out

A

18-20 weeks

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5
Q

what do anomaly scans do

A

detect serious physical abnormalities in the foetus

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6
Q

why are routine blood and urine tests carried out throughout pregnancy

A

to monitor concentrations of marker chemicals

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7
Q

what does measuring a chemical at the wrong time lead to

A

a false positive result

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8
Q

what can atypical chemical concentrations lead to

A

diagnostic testing to determine if the foetus has a medical condition

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9
Q

when would a diagnostic test be carried out

A

after a screening test

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10
Q

why would a diagnostic test be carried out

A

to definitely establish whether or not the person has the condition or disorder

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11
Q

what is a karyotype

A

an image of an individuals chromosomes arranged in homologous pairs

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12
Q

how are karyotypes produced

A

cells from samples can be cultured to obtain sufficient cells

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13
Q

what would a karyotype be used for

A

to diagnose a range of conditions

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14
Q

what does postnatal screening involve

A

health checks which are carried out after the birth of a baby

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15
Q

how would you detect PKU in a baby

A

postnatal screening

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16
Q

what causes pku

A

a substitution mutation meaning that the enzyme which converts phenylalanine into tyrosine is non functional

17
Q

what happens to individuals with high levels of phenylalanine (pku)

A

they are placed on a restricted diet

18
Q

what is a pedigree chart

A

a family tree

19
Q

what are pedigree charts used to do

A

to analyse patterns of inheritance in genetic screening and counselling

20
Q

why do genetic counsellors use pedigree charts

A

to advise parents of the possibility of passing on a genetic condition to their child

21
Q

which chromosome is the sex chromosome

A

the 23rd pair

22
Q

what is the name for the other 22 chromosomes

A

autosomes