3. antenatal screening Flashcards

1
Q

what are 3 downsides to screening

A
  1. false positives
  2. harm from screening or further tests
  3. cost
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2
Q

what is FPR

A

false-positive ratio
The ratio of patients who are disease-free but test positive for an illness, as a result of error, to all patients who do not have the disease

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3
Q

what theory is used to estimate the probability of a diagnosis, given the appearance of specific signs, symptoms, or test outcomes.

A

bayes theorem

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4
Q

sickle cell and thalassaemia:

who gets screened, when and how is it done?

A
  • pregnant women (also based on ethnic origin)
  • pre-conception to 10 weeks
  • blood test
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5
Q

if a pregnant woman tests positive for sick cell/thalassaemia:
what prenatal diagnosis is used?

A

CVS (Chorionic villus sampling)

amniocentesis

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6
Q

if a pregnant woman tests positive for sick cell/thalassaemia:
what would happen if the fetus is affected

A

termination

early specialist care

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7
Q

infectious disease:

-who gets screened and when does it happen

A

all women

at booking

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8
Q

infectious disease screening:

what gets screened for and how

A

HIV, Hep B syphilis

serology (diagnostic examination of blood serum)

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9
Q

what are the next steps if tested positive for HIV?

A
  • maternal treatment
  • high risk antenatal care
  • prevent transmission to neonate
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10
Q

what are the next steps if tested positive for Hep B

A
  • change antenatal care prevent transmission

- neonate receives vaccine

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11
Q

what are the next steps if tested positive for syphilis

A

maternal treatment to prevent congenital syphilis

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12
Q

chromosomal abnormalities:

  • who gets screened
  • when does it happen
A

all preg woman

between 11+0-13+6

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13
Q

chromosomal abnormalities:

how is screening performed

A

combined test:

  • fetal nuchal translucency (fluid @ back of neck)
  • maternal serum - beta-hCG and PAPP_A
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14
Q

how is the risk of trisomy 21 increased

A

with maternal age

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15
Q

what BRAIN abnormalities can be detected by US

A

acrania

holoprosencephaly

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16
Q

what SPINE abnormalities can be detected by US

A

open spina bifida

17
Q

what FACE abnormalities can be detected by US

A

facial cleft

anopthalmia

18
Q

what NECK abnormalities can be detected by US

A

cystic hygroma

19
Q

what THORAX abnormalities can be detected by US

A

congenital diaphragmatic hernia

20
Q

what ABDOMINAL WALL abnormalities can be detected by US

A

exomphalos (omphalocele)

gastroschisis

21
Q

what URINARY TRACT abnormalities can be detected by US

A

biliary renal agenesis

urethral obstruction

22
Q

what EXTREMITIES abnormalities can be detected by US

A

club foot

arthrogryposis

23
Q

what SKELETAL abnormalities can be detected by US

A

skeletal dysplasia

achondroplasia

24
Q

what Congenital heart disease can be seen (US) via four chamber view

A
  • AV septal defect
  • hypoplastic left heart syndrome
  • ventricular septal defect
  • Ebsten’s anomaly
25
Q

what Congenital heart disease can be seen (US) via great vessels view

A
  • transposition of the great arteries
  • tetralogy of Fallot
  • common arterial trunk
  • coarctation of the aorta
  • aortic valve stenosis