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?

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
what findings would there be to a newborn with congenital cataracts? (2)
- Central shadow - Completely obscure red reflex
26
what eye screening done at infant check (6-8 weeks)?
- 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
what happens if NIPE eye screening outcome is positive?
- Assessment by consultant opthalmologist - Surgery for severe cataracts (6-10 weeks)
28
What categories of congenital heart problems does NIPE screen for?
- Critical congenital heart disease (CCHD) - Major serious conditions
29
What are critical congenital heart diseases and when do they need intervention?
potentially life threatening duct-dependant conditions - require procedure <28 days of life
30
When do major serious CHD require intervention?
require invasive intervention <1 yr of life
31
RF for CHD (NIPE)?
- FHx of CHD (1st degree) - Fetal trisomy 21 - Cardiac anomalies suspected on antenatal scan - Maternal exposure to virus (Rubella) - maternal diabetes/epilepsy/SLE
32
NIPE cardiac screening: what do you ask in the Hx?
- Baby breathless - change in colour at rest/feeding - Normal feeding behaviour - ever too tired to feed - lethargic
33
NIPE cardiac screening: what should you observe?
- general tone - Central and peripheral colour - Size + shape of chest - RR - Symmetry of chest movements - signs of resp distress
34
NIPE cardiac screening: what should you look for on palpation?
- Femoral and brachial pulses - Cap refill - Position of cardiac apex (exclude dextrocardia) - Palapte liver (exclude hepatomegaly)
35
NIPE cardiac screening: where should you auscultate?
- 2nd ICS (L) - 2ns ICS (R) - Lower left sternal border (4th ICS) - Apex - Midscapulae
36
RF for developmental dysplasia of the hip (DDH)? what should you do with all these babies?
- most degree FHx of hip problems in early life - breech presentation - All these babies should have a hip US
37
NIPE hip screening: what should parents look out for in their baby?
- one leg not moving as far when changing nappy - one leg longer - one leg drags when crawling - child limps (waddling gait)
38
NIPE hip examination: what should you look for?
- Symmetry of leg length - Level of knees with hips + need bilaterally flexed - Restricted abduction of the hip in flexion
39
what manoeuvre screens for a dislocatable hip?
Barlow manouvre
40
What manoeuvre screens for an already dislocated hip?
Ortolani manoeuvre
41
what does NIPE screening of testes screen for?
- Bilateral undescended testes - Unilateral undescended testes
42
What are the complications of undescended testes?
- increases risk of testicular cancer - Decreased fertility - Other urogenital problems
43
NIPE: undescended testicules RF?
- 1st degree FHx of undescended testes (father or brother) - Low birth weight - SGA - preterm birth
44
NIPE examination of testes: what do you observe for?
observe scrotum for symmetry, size and colour
45
NIPE examination of testes: what do you palpate for?
- Scrotal sac - palpation of inguinal canal
46
NIPE examination of testes: what do you do if baby has unilateral undescended testical
- usually descended <1 yr - If in inguinal canal then can be manoeuvred down into scrotum
47
NIPE examination of testes: what do you do if abby has bilateral undescended testes?
refer to specialist (senior paediatrician) within 24 hrs