2.4 Flashcards

(30 cards)

1
Q

what did an antenatal screening do

A

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

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2
Q

when dies a dating scam occur

A

8-14 weeks

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3
Q

what is the reason for dating scan

A

measuring fetus, determining the due date and stage of pregnancy

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4
Q

what is the timing for an anomaly scan

A

18-20 weeks

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5
Q

what is the reason for an anomaly scan

A

look for serious physical abnormalities

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6
Q

why are blood and urine tests done

A

to monitor concentrations of marker chemicals

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7
Q

what can happen if blood and urine tests are done at the wrong time

A

a false positive , leading to a misdiagnosis

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8
Q

what happens due to amniocentesis

A

small amount of fluid from the amniotic sac surrounding the foetus to check for genetic disorders carrioud out between 14 - 16 weeks

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9
Q

what is cvs

A

cells from placenta are tested from genetic disorders

as early as 8 weeks

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10
Q

give an advantage of amniocentesis

A

smaller chance of misscariage

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11
Q

advantage to cvs

A

is done earlier in the pregnancy

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12
Q

what are homologous pairs

A

two chromosomes that are very similar in size , shape and genetic information, one from the mother and one from the father

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13
Q

what is dominant

A

alleles that are always expressed

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14
Q

what is a genotype

A

genetic makeup , made from alleles which determine d gratuité

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15
Q

what is genetics

A

study of inheritance controlled by genes

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16
Q

what is a phenotype

A

features resulting from the expression of genes

17
Q

what is an allele

A

different forms of the same gene

18
Q

what does homozygous mean

A

two alleles of a pair that are the same

19
Q

what does recessive mean

A

alleles are only expressed if both alleles are recessive

20
Q

what is a gene

A

a section of dna that codes for a particular protein

21
Q

what does heterozygous mean

A

two alleles of a pair are different

22
Q

what does autosomal dominant inheritance mean

A

any sufferers only require one dominant allele it effects both genders equally

23
Q

what does autosomal recessive mean

A

suffered require two recessive alleles to be affected

24
Q

autosomal incomplete dominance

A

the dominant allele may not fully express itself

25
what does sex linked recessive mean
sex chromosomes, carry genes that code for functions
26
what is pku
disorder meaning people can’t break down phenylalanine causing a build up
27
what is an example of an autosomal recessive disorder
cystic fibrosis
28
what is an example of automsomal dominant disorder
huntingtons
29
what is an example of an incomplete dominant disorder
sickle cell disease
30
what is a sex linked recessive disorder
haemophilia