Screening Flashcards

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1
Q

Between which weeks does a dating scan take place?

A

8-14 weeks

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2
Q

Between which weeks does an anomaly scan take place?

A

18-20 weeks

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3
Q

Name the scan that may detect serious physical abnormalities with the fetus?

A

Anomaly scan

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4
Q

Name 2 types of tests carried out throughout pregnancy to monitor concentrations of marker chemicals.

A

a) urine tests

b) blood tests

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5
Q

Name two types of diagnostic testing.

A

a) Chorionic villus sampling

b) amniocentesis

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6
Q

What is an advantage of CVS over amniocentesis?

A

It can be done earlier in pregnancy

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7
Q

What is the advantage of amniocentesis over CVS?

A

Lower risk of miscarriage

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8
Q

What name is given to an individual’s chromosomes arranged as homologous pairs?

A

Karyotype

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9
Q

Give 3 examples of disorders that can be detected by looking at the karyotype.

A

1) Down’s syndrome
2) Turner’s syndrome
3) Klinefelter’s syndrome

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10
Q

What do we call different forms of a gene?

A

allele

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11
Q

What do we call the alleles an organism has for a particular characteristic, usually written as letters e.g. Bb or BB

A

Genotype

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12
Q

What do we call the visible characteristics of an organism which occur as a result of its genes?

A

Phenotype

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13
Q

What term is used to describe an allele that always expresses itself whether it is partnered by a recessive allele or by another like itself?

A

Dominant

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14
Q

What term is used to describe the variant of a gene for a particular characteristic which is masked or suppressed in the presence of the dominant variant?

A

Recessive

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15
Q

What term is used to describe a genotype where the 2 alleles are identical?

A

Homozygous

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16
Q

What term is used to describe a genotype where the 2 alleles are different?

A

Heterozygous

17
Q

What name is given to the first 22 pairs of chromosomes?

A

autosomes

18
Q

What name is given to the 23rd pair of chromosomes?

A

sex chromosomes

19
Q

What are the sex chromosomes of a female?

A

XX

20
Q

What are the sex chromosomes of a male?

A

XY

21
Q

Which of the sex chromosomes is shorter?

A

Y

22
Q

Why does the predicted ratio of a phenotype not always match the actual ratio?

A

Fertilisation is random.

23
Q

Give an example of a diagnostic postnatal test?

A

phenylketonuria (PKU)

24
Q

What causes PKU?

A

substitution mutation

25
Q

In PKU an enzyme is altered. What is the substrate and product for this enzyme?

A
Substrate = phenylalanine
Product = tyrosine
26
Q

In PKU, which chemical can build up and cause brain damage in babies?

A

phenylalanine

27
Q

How can PKU be treated?

A

Placed on a restricted diet