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Higher Human Biology > unit 2.4: antenatal and postnatal screenings > Flashcards

unit 2.4: antenatal and postnatal screenings Flashcards

(72 cards)

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1
Q

what can antenatal determine the risk of

A

chromosomal abnormalities
other disorders

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2
Q

what are the tests used in antenatal care

A

blood pressure checks
blood type
general health checks
routine blood and urine tests

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3
Q

how does an ultrasound work

A

picks up high frequency sounds that have bounced off the foetus

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4
Q

what are the 2 types of ultrasound scan women are given

A

dating scan
anomaly scan

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5
Q

when is the dating scan done

A

between 8 - 14 weeks

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6
Q

what is the dating scan used for

A

determines the due date

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7
Q

what are dating scans used in conjunction with

A

biochemical tests for marker chemicals which vary during pregnancy

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8
Q

when is an anomaly scan carried out

A

18 - 20 weeks

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9
Q

what is an anomaly scan used for

A

checks for physical abnormalities

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10
Q

what is the other type of scan that can be done

A

nuchal translucency (NT) scan

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11
Q

what does an NT scan help estimate

A

the risk of a down’s syndrome baby

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12
Q

when is an NT scan carried out

A

11-14 weeks

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13
Q

what is the process of an NT scan

A

an assessment is made of the thickness of fluid at the nape of the neck, if the NT exceeds a normal value then there is a risk of chromosomal abnormality (not a diagnostic test)

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14
Q

why must measuring substances at the correct time be done

A

can lead to false negative or positives, at one stage a high level of chemical markers can indicated a genetic disorder and at others it would have no significance

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15
Q

when is a series of blood and urine tests offered to the mother that checks for markers

A

16-18 weeks

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16
Q

what are 2 common chemical markers checked for

A

human chorionic gonadotropin (hCG)
alpha-fetoprotein (AFP)

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17
Q

when is hCG checked

A

after week 10

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18
Q

why is hCG checked after week 10

A

both a down’s pregnancy and normal pregnancy would show elevated levels, however after week 10 only a down’s pregnancy will show elevated levels as the normal pregnancy level decreases

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19
Q

what is the normal range of AFP

A

0.5-2.49 units AFP

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20
Q

what levels of AFP are found to be concerning

A

levels below 0.4 units

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21
Q

what does an AFP marker of below 0.4 units indicate

A

down’s syndrome (trisomy 21)
edward’s syndrome (trisomy 18)

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22
Q

what are the 2 main risks associated with down’s syndrome testing

A

age

often advised to have invasive diagnostic tests which carry risk of miscarriage

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23
Q

what is a screening test

A

detects signs and symptoms associated with a disorder, degree of risk carried out

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24
Q

what is a diagnostic test

A

definitive test, establishes without a doubt whether a person suffers a specific disorder

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25
what are 3 more routines tests carried out
altered liver, renal or thyroid function
26
what are the symptoms of pre-eclampsia
high blood pressure excess protein in the plasma changes to blood biochemistry cause by altered liver and renal function
27
what is the urea concentration in the plasma of women with pre-eclampsia
significantly higher than normal
28
what is the calcium concentration in the plasma of women with pre-eclampsia
significantly lower than normal
29
why is there a difference in the 2 concentrations of women with pre-eclampsia
a decrease in renal blood flow and glomerular filtrate rate
30
what is the result of pre-eclampsia pregnancy
there is no cure, baby may be induced early or delivered by caesarean section (c-section)
31
what are the 2 types of diagnostic testing
amniocentesis chorionic villus sampling (CVS)
32
why might these diagnostic tests be offered
any proteins emerged from routine screening tests a history of genetic disorder(s) in the family the woman is already in a “high risk” category, e.g. over 35 years old
33
when is amniocentesis carried out
around 14-16 weeks
34
what is the process of amniocentesis
a small amount of amniotic fluid is withdrawn containing foetal cells
35
what happens to the sample of foetal cells from amniocentesis
used to produce a karyotype
36
what is a karyotype
a visual display of a person’s complete chromosome complement arranged in pairs
37
how long does it take to produce a karyotype
around 2 weeks
38
when is CVS carried out
as early as 8 weeks
39
what is the process of CVS
taking a sample of placental cells that are cultured and used to produce a karyotype
40
what are the risks of the 2 diagnostic tests
both carry risk of miscarriage, CVS has a higher risk of miscarriage than amniocentesis
41
what is a benefit to CVS
can be carried out earlier at 8 weeks compared to 14-16 weeks with amniocentesis
42
what is dominant alleles represented by
a capital letter (H)
43
what are recessive alleles represented by
a lower case letter (h)
44
cystic fibrosis is an example of what autosomal inheritance
recessive (cc)
45
what are non sufferers of cystic fibrosis
homozygous dominant (CC) heterozygous (Cc)
46
what does cystic fibrosis result from
a 3 base pair deletion on chromosome 7 producing a non-functional protein
47
what is the frequency in the UK of being a carrier of cystic fibrosis
1 in 25
48
what inheritance is huntington’s disease
autosomal dominant
49
what are sufferers of huntington’s
homozygous dominant (HH) heterozygous (Hh)
50
what are non sufferers of huntington’s
homozygous recessive (hh)
51
how is huntington’s disease caused
a mutation causing codon CAG to be repeated more than 35 times leading to incorrect protein being produced
52
lack of the correct protein in huntington’s can lead to
premature death decreased production of neurotransmitters progressive degeneration of the CNS
53
what is an example of an incomplete dominance
sickle cell disease and sickle cell trait
54
why are sickle cell disease and sickle cell trait said to be incompletely dominant
the fully expressed form is relatively rare the partially expressed form is more frequent each sufferer of the fully expressed form has 2 parents who suffer the partly expressed form males and females are affected equally
55
in sickle cell disease/trait, what are non sufferers
homozygous for one incompletely dominant allele (HH)
56
in sickle cell disease, what are sufferers
homozygous for other incompletely dominant allele (SS)
57
in sickle cell trait, what are non sufferers
heterozygous (HS)
58
name the 2 example of sex linked inheritance
haemophilia red/green colour blindness
59
who does sex linked inheritance affect more
males
60
why does it affect males more than females
males only need 1 recessive/dominant allele, where as females need 2
61
what is the result of haemophilia
blood takes a long time to clot or does not clot at all
62
what is the genotype for a normal female in red/green colour blindness
XCXC
63
what is the genotype for a carrier female in red/green colour blindness
XCXc
64
what is the genotype for an affected female in red/green colour blindness
XcXc
65
what is the genotype for a normal male in red/green colour blindness
XCY
66
what is the genotype for a affected male in red/green colour blindness
XcY
67
what is postnatal screening
diagnostic testing for metabolic disorders in new born babies
68
what is the main example of a disorder tested for in new borns
phenylketonuria (PKU)
69
what is the cause and result of PKU
substitution mutation resulting in the production of a non functional enzyme
70
what does the enzyme in PKU not do, that it should
does not convert phenylalanine into tyrosine, which results in phenylalanine build up in the blood
71
what is the treatment for PKU
a restricted diet containing only the phenylalanine needing for normal growth
72
what can happen if PKU is not detected soon after birth
the baby’s mental development will be adversely affected

Higher Human Biology (25 decks)

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