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Practical Skills > Screening > Flashcards

Screening Flashcards

1
Q

The newborn blood spot screening tests for 9 serious health conditions, what are these?

A

Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism

(metabolic conditions:)
PKU
Maple syrup urine disease
MCADD
IVA
GA1
HCU
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2
Q

what screening is offered between 11-14 weeks of pregnancy?

A

the combined test
looks for down’s, edward’s and patau’s syndrome
blood test and nuchal translucency (during ultrasound)

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3
Q

if the combined screening test cannot be done…

A

quadruple test can be offered up to 20 weeks
is blood test alone
can test only for Down’s syndrome (Edward’s and Patau’s may be picked up on 20 week scan, however)

(combined test may not be suitable due to later gestation, high BMI, fetal lie)

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4
Q

the 20 week scan (or anatomy scan, or detailed anomaly scan) looks for how many physical conditions?

A

11
including spina bifida, cleft lip, skeletal dysplasia

(looks in detail at baby’s brain, heart, spinal cord, bones, kidneys etc)

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5
Q

the 20 week scan is roughly performed…

A

at 18-21 weeks

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6
Q

NIPE stands for…

A

newborn and infant physical examination
(looks at eyes, heart, hips and genitals)
should occur once again at GP between 6-8 weeks

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7
Q

a NIPE should be carried out…

A

within 72 hours of birth

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8
Q

a hearing test for baby should occur before…

A

3 months old, but ideally before 4-5 weeks

likely to be at hospital

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9
Q

a newborn blood spot test should occur on day…

A

5

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10
Q

what is a NIPT?

A

‘non-invasive prenatal test’
will be offered if a high chance result occurs from screening
generates risk baby has genetic abnormalities
tests placental DNA in mother’s blood

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11
Q

what are some forms of invasive testing that can be offered post screening?

A

CVS: a fine needle put into mother’s abdomen, collects tissue from placenta, cells tested

Aminocentesis: fine needle inserted into uterus to collect sample of amniotic fluid (which contains cells from fetus)

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12
Q

CVS:

A

chorionic villus sampling

usually 11-14 weeks of pregnancy

fine needle inserted into abdomen to take tissue from placenta
cells are tested for Down’s, Edward’s and Patau’s

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13
Q

at what gestation can CVS and amniocentesis occur?

A

CVS/chorionic villus sampling: 11-14 weeks

amniocentesis: after 15 weeks

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14
Q

blood test screening for infectious diseases and haemoglobinopathies results are explained at…

A

16 week appointment

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15
Q

screening tests vs diagnostic tests:

A

screening gives a chance of having a health problem

diagnostic tests produce more certain results

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16
Q

the infectious diseases screened for in a blood test include:

A

HIV
hepatitis B
syphilis

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17
Q

what is the plan of care if a woman has hepatitis B and is pregnant?

A

can lead to liver infections and cancers if not treated

mother, mother’s partner and family should all be tested, treatment for mother depends on how long she has been infected for - may include antiviral medication for example

baby should have 6 vaccinations to protect itself:
within 24 hours of birth, at 4 weeks old, 8 weeks old, 12 weeks old, 16 weeks old and at one year of age

18
Q

if a mother has hepatitis B, her baby should be vaccinated how many times and when?

A

6 times:

24 hours old
4 weeks
8 weeks
12 weeks
16 weeks
1 year old
19
Q

the chances of HIV being passed onto baby are greatly reduced by…

A 
specialist care and treatment
identification early
medication
planned care for birth
not breastfeeding

(reduction from 25% chance to 0.5% chance)

20
Q

treatment in pregnancy can reduce HIV transmission from 25% to…

A

0.5% chance

21
Q

if syphilis is not treated in pregnancy, it can lead to…

A

increased chances of miscarriage and stillbirth

health conditions for baby after birth: severe anaemia, meningitis, jaundice, nerve problems: causing blindness or deafness

22
Q

if a woman is detected to have syphilis…

A

referral to specialist team is urgently required
treatment will be course of antibiotics that are safe for baby
baby will have further blood tests after birth and may need further antibiotics

partner should also be tested

23
Q

sickle cell disease vs thalassaemia:

A

both haemoglobinopathies / blood disorder

sickle cell: unusual shaped RBC meaning the body finds in harder to carry oxygen (anaemic), and blood vessels can become blocked. Have severe pain attacks and limits quality of life

thalassaemia: produce very little RBC, need constant blood transfusions every 3-5 weeks throughout their lives

24
Q

haemoglobin diseases are more common in…

A

those with ancestors from Africa, Caribbean, India and Pakistan, South East Asia, Middle East, the Mediterranean

and in those who live in areas of the UK that have high levels

25
Q

booking bloods should ideally be taken…

A

before 10 weeks gestation

at latest 12 weeks

26
Q

Trisomy 21:

A

Down’s syndrome

varying levels of learning disability:
communication challenges and difficulty managing day to day tasks.
increased chance of heart conditions and problems with vision and hearing

5% die before first birthday

27
Q

Trisomy 18:

A

Edward’s syndrome

increased chance of heart conditions, breathing difficulties and infections. Will be unlikely to feed without tube

only palliative care offered
only 13% will live past 1st birthday

28
Q

Trisomy 13:

A

Patau’s syndrome

have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, often have cleft lip or palette

only palliative care offered
only 11% will live past first birthday

29
Q

when does the anatomy scan take place?

A

between 18 and 20+6 gestation

known as the 20 week scan

30
Q

Spina bifida will be picked up on 20 week scan…

A

90% of the time

for example, heart defects will only be picked up 50% of the time

31
Q

20 week scan looks for 11 physical conditions along with generally…

A

the fetus’ bones, heart, brain, kidneys, spinal cord, face and abdomen

32
Q

a 20 week scan may incur difficulty due to…

A

fetal lie
high BMI

(further scan can be offered at 23 weeks)

33
Q

Congenital Hypothyroidism (NBBS):

A

occurs in 1 in 2000
do not have enough of the hormone thyroxine
can be treated with thyroxine tablets if detected early which allows baby to develop normally

34
Q

Cystic Fibrosis (NBBS):

A

occurs in 1 in 2,500 babies
affects digestion and lungs
early treatment is vital

35
Q

metabolic disorders (NBBS):

A

e.g. PKU, maple syrup urine disease

cannot process certain substances in food
can be treated by diet and certain medications

36
Q

screening for infectious diseases can be offered at what gestation if initially declined?

A

20 weeks

37
Q

the combined screening test occurs…

A

between 11-14 weeks

though bloods can be taken from 10

38
Q

newborn screening information should be discussed…

A

28 weeks onwards

39
Q

newborns who miss their NBBS can be tested…

A

up to year after

except for CF, screening only offered up to 8 weeks

40
Q

the first diabetic eye scan should occur…

A

before 12 weeks

a follow up between 16-20 weeks

Practical Skills (3 decks)

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