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Placement > Down's Syndrome > Flashcards

Down's Syndrome Flashcards

1
Q

what is the incidence of down’s syndrome

A

average 1:1000
750 babies born with DS in the uk each year
40,000 people living in the UK
All ages, races, religions and economic situations

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2
Q

when was DS discovered

A

always been around, 1866 dr John Down published a description of the syndrome
1959, Dr Lejeune discovered it was due to an extra chromosome

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3
Q

Coping strategies seen in people with DS

A

routine, order and consistency commonly important
self-talk as a way of making sense of the world
Stubborn? - a sign that they may not fully understand what is expected of them. can also be symptomatic of an individual trying to exert control over their lives

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4
Q

can people with DS get married and have children

A

yes, need to recieve education in relationships and sexuality
both sexes have a reduced fertility rate
need advice on contraception
advice on having children - some people with LD can successfully parent their children with the right support, however, many couples decide not to have children because of the resonsibility and hardwork involved

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5
Q

if one parent has DS, how likely is it that the baby will have DS

A

35-50%

chance even higher if both parents have DS

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6
Q

complications associated with a parent having DS

A

miscarriage
DS
premature baby
C section

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7
Q

how has life changed for people with DS

A

used to be put in institutions, deemed ineducatable. many public attitudes towards people with LD stem from the policies of segregation

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8
Q

how has life changed for people with DS

A

used to be put in institutions, deemed ineducatable. many public attitudes towards people with LD stem from the policies of segregation
now have the right to receive services and support within their own communities - can attend local mainstream school

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9
Q

what is life like now for people with DS

A

can attend mainstream school
education and support is improving
leading longer, healthier, fulfilling and varied lives. leaving home and getting jobs with the right support in place
or can stay at home and recieve social services support. can get direct payment from social services and then organise your own support

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10
Q

what does the DSA do for people

A

50yrs, improve knowledge and understanding
recognise the value and contribution children and adults with DS make to our communities
provide information and support
champion the rights of people with DS and help ensure they have the opportunities they need to live lives of their own choosing

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11
Q

what proportion of babies with DS are born to older mothers

A

only 20% over 35

but increased chance of child with DS as you get older

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12
Q

information the patient should have received pre-screening

A

Balanced and accurate information about DS
Screening doesnt give a definite diagnosis
Explanation of the risk score obtained following screening
Screening pathway and next steps for screen-positive ad screen negative results, including info about decisions that need to be made at each step and their consequences
Information about amniocentisis and chorionic villus sampling

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13
Q

risk of having a baby with DS at different ages

A 
20 - 1:1,500
30 - 1:800
35 - 1:270
40 - 1:100
45 - >1:50
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14
Q

risk of having a baby with DS after a previously affected pregnancy

A

regular trisomy 21, recurrance risk is 0.75% (1 in 133ish) at 12 weeks, 0.42% during middle trimester and 0.34% at term

if due to a translocation, depends on the type, and which partner carries the translocation

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15
Q

who gets offered screening

A

all pregnant women within 10-14 weeks

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16
Q

when would someone get an amniocentisis

A

after 15 weeks of gestation

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17
Q

when does someone get chorionic villus sampling

A

before 13 weeks (normally week 10-12)

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18
Q

risk of miscarriage amniocentisis vs CVS

A

0.5-1% amniocentisis
1-2% CVS
average 1%

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19
Q

aim of the screening programme

A

identify those with a higher risk of having a baby with down’s syndrome and to offer them diagnostic testing

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20
Q

what happens if the diagnostic test is positive

A

means that the baby has DS
will be offered expert counselling and support, given information and people to talk things through with
can either terminate the pregnancy or continue with support

21
Q

challenge of a prenatal screening programme

A

identify women in whom a risk of DS is sufficiently high to justify such an invasive teat and to minimise the risk of miscarrying a healthy baby

22
Q

screening methods for DS

A

serum screen and the US screen (nuchal translucency). both can be used in the combination test.
if later in pregnancy (over 14 +2weeks-20 +0) then can do quadruple test. which is less accurate

23
Q

when is the serum screen done

A

10 -14+1 weeks

24
Q

when is the US screen done

A

11 +2 weeks and 14+1 weeks

25
Q

what does the serum screen look for (where produced? raised or decreased?)

A

Beta-hCG levels (produced by the placental syncytiotrophoblasts, which are raised in those with DS) and Pregnancy associated plasma protein A (PAPP-A), produced by the placental syncytiotrophoblasts which is reduced in DS

26
Q

what does the US screen look for

A

Nuchal translucency - measures the size of the babies nuchal pad at the nape of the neck. increased size is seen in any serious anomaly of the heart and great arteries, and strongly associated with a chromosomal abnormality. (84% of trisomy 21 foetus’ had a nuchal translucency >3mm at 10-13 weeks)
20% false positive rate if the thresholds are set to detect 85% (used alone and maternal age adjusted)
Can also screen for nasal bone - absence is highly predictive marker of DS

27
Q

what does the quadruple test look for (and where produced, raised or decreased?)

A

Beta-hCG (produced by the placental syncytiotrophoblasts, raised)
Inhibin A (produced by placenta, raised)
UE3 (produced by placenta and foetal adrenals, unconjugated oestriol, reduced)
AFP (alpha feroprotein, produced by the foetal yolk sac and liver, reduced)

28
Q

how accurate is the quadruple screen

A

identifies 80% of women who are carrying a baby with down syndrome
5% of women have a false positive

29
Q

how accurate is the combined test

A

will pick up 90% of babies with DS

5% false positive

30
Q

what is taken into consideration when working out risk

A

age, weight, family origin, gestation of pregnancy, blood test result, US result

31
Q

factors which effect the test results

A

WEIGHT: serum marker levels decreased in heavier women/increased in lighter women
ETHNICITY: AFP, beta-hCG, PAPP-A levels higher in afrocaribbean than caucasian women
IVF: Beta-hCG and free beta-hCG levels tend to be about 10% higher and uE3 and PAPP-A levels about 10% lower in women who have become pregnant as a result of IVF compared to non-IVF pregnancies
DIABETES: AFP and uE3 levels tend to be low in women with insulin dependant diabetes
SMOKING: PAPP-A, free b-HCG and hCG levels tend to be about 20% lower and inhibin levels about 60% higher in women who smoke
MULTIPLES: raised serum marker levels (NOTE: poses difficulty as possibility one has DS and other doesnt)
PREVIOUS PREGNANCIES AFFECTED: previous pregnancy affected with DS or open neural tube defect, result will be classified as screen-positive, regardless of the level of the screening markers, so that further testing can be discussed with the women
BLEEDING: vaginal bleeding immediately before taking the second blood sample can affect the screening result by increasing maternal AFP levels
NOTE if a woman has been screened before, the levels of the screening markers in that pregnancy can be used to adjust the marker levels in the current preg (if someone had false positive, theyre likely to get a false positive again)

32
Q

factors which effect the test results

A

WEIGHT: serum marker levels decreased in heavier women/increased in lighter women
ETHNICITY: AFP, beta-hCG, PAPP-A levels higher in afrocaribbean than caucasian women
IVF: Beta-hCG and free beta-hCG levels tend to be about 10% higher and uE3 and PAPP-A levels about 10% lower in women who have become pregnant as a result of IVF compared to non-IVF pregnancies
DIABETES: AFP and uE3 levels tend to be low in women with insulin dependant diabetes
SMOKING: PAPP-A, free b-HCG and hCG levels tend to be about 20% lower and inhibin levels about 60% higher in women who smoke
MULTIPLES: raised serum marker levels (NOTE: poses difficulty as possibility one has DS and other doesnt)
PREVIOUS PREGNANCIES AFFECTED: previous pregnancy affected with DS or open neural tube defect, result will be classified as screen-positive, regardless of the level of the screening markers, so that further testing can be discussed with the women
BLEEDING: vaginal bleeding immediately before taking the second blood sample can affect the screening result by increasing maternal AFP levels
NOTE if a woman has been screened before, the levels of the screening markers in that pregnancy can be used to adjust the marker levels in the current preg (if someone had false positive, theyre likely to get a false positive again)

33
Q

what did the Serum urine and ultrasound screening study (SURUSS) conclude

A

compared 47,000 singleton pregnancies in 25 maternity units.
combined test best for 1st trimester and quadruple test best for 2nd trimester

34
Q

what must a screening programme be

A

cost effective, easy to deliver, achieve the agreed targets

etc

35
Q

problems with the screening programme

A

limit timeframe for desicion making as dont get result right away

36
Q

how many pregnancies effected my DS are twins

A

2%

37
Q

chance of twins having DS

A

if dizygotic then the risk of DS for each baby is 1:800

if monozygotic, the risk of both having DS us also 1:800

38
Q

the future of DS screening

A

looking into examining foetal cells in the maternal circulation for prenatal diagnosis, to reduce the need for invasive tests

39
Q

how does screening differ when looking for other trisomies

A

Can look for: just DS, DS, Edwards and pataus syndrome, just edwards and pataus
combined test can look for all 3, but the quadruple test only looks for DS

40
Q

what if you cant measure the nuchal translucency?

A

Obtaining nuchal translucency measurement depends on the position of the baby and is not always possible. if Screening for DS alone, will then be offered the quadruple test. if was ES or PS, can have a mid-pregnancy scan to look for physical signs of the syndromes

41
Q

Describe what Edwards and Pataus is

A

Edwards - 18, Pataus 13.
very serious health implications. babies sadly die before or shortly after birth usually. are cases of living into adulthood but v rare.

42
Q

getting results of screening for all 3

A

will get one score for DS and one for E/PS.

if lower chance, will be told within 2 weeks. if higher chance, will be told within 3 working days

43
Q

resources/good charities

A

Antenatal results and choices charity - information about screening results and options if a higher chance result

44
Q

what does a lower chance result mean

A

that there is a less than 1 in 150 chance that the baby has a condition (either DS or E/PS)
does not mean the baby definitely doesnt have DS or E/PS

45
Q

describe what an Amniocentisis is, procedure and risks

A

fine needle through abdomen to get amniotic fluid
US before and during to check best position
maybe numbed with anaesthetic, but may not
takes 10 mins but whole consultation will be 30 mins. will be monitored for up to 1 hr. best to have someone drive you there and back
period pain/uncomfortable
results back in 3 days
risks: infection, pain, miscarriage, not getting a sample.
6/100 have a problem drawing out enough fluid, so need a second insertion of needle. if not gathered then offered another apt
after - pain, light bleeding (spotting)
miscarriage - persistant/severe pain, temperature, chills, discharge or clear fluid from vagina, contractions, bleeding
club foot - increased chance if done before 15 weeks
Rhesus disease - blood tests to check if positive or neg. if neg then can have anti-D

46
Q

what other conditions can CVS/amniocentisis detect

A 
Both:
D/E/PS 
cystic fibrosis
Duchenne muscular dystrophy 
Thalassaemia 
Sickle cell 
CVS:
Phenylketonuria 
Cannot detect neural tube defects
47
Q

describe what CVS is, procedure, risk

A

fine needle usually through abdomen though can be through the cervix to get placental cells
US before and during to check best position
maybe numbed with anaesthetic, but may not
takes 10 mins but whole consultation will be 30 mins. will be monitored for up to 1 hr. best to have someone drive you there and back
period pain/uncomfortable
results back in 3 days
risks: infection, pain, miscarriage, not getting a sample.
1/100 sample of cells not suitable, need repeat apt or wait to do an amniocentisis
after - pain, light bleeding (spotting)
miscarriage - persistant/severe pain, temperature, chills, discharge or clear fluid from vagina, contractions, bleeding
club foot - increased chance if done before 15 weeks
Rhesus disease - blood tests to check if positive or neg. if neg then can have anti-D

48
Q

Good charities/resources

A

ARC - antenatal results and choices carity. support throughout screening and diagnostic

Placement (10 decks)

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