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3a > Paediatrics: NIPE screening > Flashcards

Paediatrics: NIPE screening Flashcards

1
Q

Screening during pregnancy: What 2 investigations are done at around 10 - 12 weeks ?

A
  • Ultrasound scan for genetic abnormality screening
  • Blood test for 3 infectious diseases
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2
Q

what 3 infectious diseases are screening for in pregnancy?

A
  • HIV
  • Hep B
  • Syphilis
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3
Q

What screening is offered to women if diabetic? why?

A

Eye screening (because pregnancy increases risk of retinopathy)

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4
Q

When is the combined screening test offered?

A

10 - 14 weeks

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5
Q

What is involved in the combined screening test (what samples) and what does it screen for? what specifically does each test measure/look for?

A
  • USS: Crown rump length (CRL) + nuchal translucency (NT)
  • Blood sample: beta-human chorionic gonadotrophin (bhCG) + pregnancy associated plasma protein - A (PAPP-A)
  • Down’s, Edward’s, Patau’s syndromes
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6
Q

What happens if mother misses the window (what is it?) for combine screening test? what is she then offered? what does this test for?

A

if misses window of weeks 10-14 for combined test then:
- Qaudruple test (up to 20 weeks): Downs syndrome only

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7
Q

What is involved in the quadruple screening test?

A

blood sample looking for 4 pregnancy hormones

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8
Q

pregnancy screening: What test is done between 18-21 weeks ? what happens ?

A

US 20-week scan
- screen for 11 physical conditions

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9
Q

How long after birth should the newborn physical screening test be done?

A

72 hours

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10
Q

What 4 areas does the NIPE screening exam screen for?

A
  • Heart
  • Eyes
  • Hips
  • Testicles (in boys)
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11
Q

What does the heel-prick test screen for and when is it done?

A

5 days old: blood spot test
- tests for 9 rare diseases (e.g. CF, sickle cell disease, congenital hypothyroidism)

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12
Q

What screening exams are done on a newborn in the first few days of life?

A
  • NIPE (72 hrs)
  • Heel-prick (5 days)
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13
Q

When is the infant physical exam done?

A

6-8 weeks

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14
Q

How many antenatal and newborn screening things are there?

A

6 (3 antenatal and 3 newborn)

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15
Q

what antenatal screening programmes are there? when are they? (3)

A
  • SCT: Sickle cell + thalassaemia screening programme (10 weeks)
  • IDPS: Infectious diseases in Pregnancy screening programme (8-12 weeks)
  • FASP: fetal anomaly screening programme: 2 parts: (10-14) (18- 21 weeks)
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16
Q

What 3 newborn screening programmes are there? when are they?

A
  • NBS: Newborn blood spot (5 days)
  • NIPE: Newborn + infant physical examination (72hrs) (6-8 weeks)
  • NHSP: Newborn hearing screening programme (4-5 weeks)
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17
Q

What are the 4 screening components of NIPE? what condition in particular for each one

A
  • Heart: Congenital heart disease
  • Eyes: Congenital cataracts
  • Hips: Developmental dysplasia of the hip (DDH)
  • Testicles: undescended testicles
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18
Q

When would NIPE newborn screening be delayed?

A

usually within 72 hrs unless
- too ill
- too young (<34 weeks gestation. wait until 34 weeks corrected age)

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19
Q

where do you record the information from NIPE screening (4) ?

A
  • S4NIT system
  • GP clinical IT system
  • Baby case notes
  • Personal child health record
20
Q

how many national screening programmes are there?

A

11

21
Q

What is congenital cataracts?

A

opacity within the lens of the eye

22
Q

RF for congenital cataracts? (4)

A
  • maternal rubella (result of maternal infection)
  • trisomy 21
  • prematurity
  • FHx of congenital cataracts
23
Q

what is involved in the eye assessment of NIPE screening? (5)

A
  • Ability to fully open eyelids
  • Check eyes are same size
  • Symmetry of eye size
  • Clarity cornea
  • Roundness of pupils
24
Q

would would a white reflex result from red-reflex-exam indicate?

A

white reflex (leukocoria => retinoblastoma)

25
Q

what findings would there be to a newborn with congenital cataracts? (2)

A
  • Central shadow
  • Completely obscure red reflex
26
Q

what eye screening done at infant check (6-8 weeks)?

A
  • any parental concerns
  • ability of baby to fix on one persons face without nystagmus
  • ability to fix + follow large bright target by moving eyes
  • alignment of eyes
27
Q

what happens if NIPE eye screening outcome is positive?

A
  • Assessment by consultant opthalmologist
  • Surgery for severe cataracts (6-10 weeks)
28
Q

What categories of congenital heart problems does NIPE screen for?

A
  • Critical congenital heart disease (CCHD)
  • Major serious conditions
29
Q

What are critical congenital heart diseases and when do they need intervention?

A

potentially life threatening duct-dependant conditions
- require procedure <28 days of life

30
Q

When do major serious CHD require intervention?

A

require invasive intervention <1 yr of life

31
Q

RF for CHD (NIPE)?

A
  • FHx of CHD (1st degree)
  • Fetal trisomy 21
  • Cardiac anomalies suspected on antenatal scan
  • Maternal exposure to virus (Rubella)
  • maternal diabetes/epilepsy/SLE
32
Q

NIPE cardiac screening: what do you ask in the Hx?

A
  • Baby breathless
  • change in colour at rest/feeding
  • Normal feeding behaviour
  • ever too tired to feed
  • lethargic
33
Q

NIPE cardiac screening: what should you observe?

A
  • general tone
  • Central and peripheral colour
  • Size + shape of chest
  • RR
  • Symmetry of chest movements
  • signs of resp distress
34
Q

NIPE cardiac screening: what should you look for on palpation?

A
  • Femoral and brachial pulses
  • Cap refill
  • Position of cardiac apex (exclude dextrocardia)
  • Palapte liver (exclude hepatomegaly)
35
Q

NIPE cardiac screening: where should you auscultate?

A
  • 2nd ICS (L)
  • 2ns ICS (R)
  • Lower left sternal border (4th ICS)
  • Apex
  • Midscapulae
36
Q

RF for developmental dysplasia of the hip (DDH)? what should you do with all these babies?

A
  • most degree FHx of hip problems in early life
  • breech presentation
  • All these babies should have a hip US
37
Q

NIPE hip screening: what should parents look out for in their baby?

A
  • one leg not moving as far when changing nappy
  • one leg longer
  • one leg drags when crawling
  • child limps (waddling gait)
38
Q

NIPE hip examination: what should you look for?

A
  • Symmetry of leg length
  • Level of knees with hips + need bilaterally flexed
  • Restricted abduction of the hip in flexion
39
Q

what manoeuvre screens for a dislocatable hip?

A

Barlow manouvre

40
Q

What manoeuvre screens for an already dislocated hip?

A

Ortolani manoeuvre

41
Q

what does NIPE screening of testes screen for?

A
  • Bilateral undescended testes
  • Unilateral undescended testes
42
Q

What are the complications of undescended testes?

A
  • increases risk of testicular cancer
  • Decreased fertility
  • Other urogenital problems
43
Q

NIPE: undescended testicules RF?

A
  • 1st degree FHx of undescended testes (father or brother)
  • Low birth weight
  • SGA
  • preterm birth
44
Q

NIPE examination of testes: what do you observe for?

A

observe scrotum for symmetry, size and colour

45
Q

NIPE examination of testes: what do you palpate for?

A
  • Scrotal sac
  • palpation of inguinal canal
46
Q

NIPE examination of testes: what do you do if baby has unilateral undescended testical

A
  • usually descended <1 yr
  • If in inguinal canal then can be manoeuvred down into scrotum
47
Q

NIPE examination of testes: what do you do if abby has bilateral undescended testes?

A

refer to specialist (senior paediatrician) within 24 hrs

3a (43 decks)

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