Paediatrics: NIPE screening Flashcards
Screening during pregnancy: What 2 investigations are done at around 10 - 12 weeks ?
- Ultrasound scan for genetic abnormality screening
- Blood test for 3 infectious diseases
what 3 infectious diseases are screening for in pregnancy?
- HIV
- Hep B
- Syphilis
What screening is offered to women if diabetic? why?
Eye screening (because pregnancy increases risk of retinopathy)
When is the combined screening test offered?
10 - 14 weeks
What is involved in the combined screening test (what samples) and what does it screen for? what specifically does each test measure/look for?
- 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
What happens if mother misses the window (what is it?) for combine screening test? what is she then offered? what does this test for?
if misses window of weeks 10-14 for combined test then:
- Qaudruple test (up to 20 weeks): Downs syndrome only
What is involved in the quadruple screening test?
blood sample looking for 4 pregnancy hormones
pregnancy screening: What test is done between 18-21 weeks ? what happens ?
US 20-week scan
- screen for 11 physical conditions
How long after birth should the newborn physical screening test be done?
72 hours
What 4 areas does the NIPE screening exam screen for?
- Heart
- Eyes
- Hips
- Testicles (in boys)
What does the heel-prick test screen for and when is it done?
5 days old: blood spot test
- tests for 9 rare diseases (e.g. CF, sickle cell disease, congenital hypothyroidism)
What screening exams are done on a newborn in the first few days of life?
- NIPE (72 hrs)
- Heel-prick (5 days)
When is the infant physical exam done?
6-8 weeks
How many antenatal and newborn screening things are there?
6 (3 antenatal and 3 newborn)
what antenatal screening programmes are there? when are they? (3)
- 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)
What 3 newborn screening programmes are there? when are they?
- NBS: Newborn blood spot (5 days)
- NIPE: Newborn + infant physical examination (72hrs) (6-8 weeks)
- NHSP: Newborn hearing screening programme (4-5 weeks)
What are the 4 screening components of NIPE? what condition in particular for each one
- Heart: Congenital heart disease
- Eyes: Congenital cataracts
- Hips: Developmental dysplasia of the hip (DDH)
- Testicles: undescended testicles
When would NIPE newborn screening be delayed?
usually within 72 hrs unless
- too ill
- too young (<34 weeks gestation. wait until 34 weeks corrected age)
where do you record the information from NIPE screening (4) ?
- S4NIT system
- GP clinical IT system
- Baby case notes
- Personal child health record
how many national screening programmes are there?
11
What is congenital cataracts?
opacity within the lens of the eye
RF for congenital cataracts? (4)
- maternal rubella (result of maternal infection)
- trisomy 21
- prematurity
- FHx of congenital cataracts
what is involved in the eye assessment of NIPE screening? (5)
- Ability to fully open eyelids
- Check eyes are same size
- Symmetry of eye size
- Clarity cornea
- Roundness of pupils
would would a white reflex result from red-reflex-exam indicate?
white reflex (leukocoria => retinoblastoma)
what findings would there be to a newborn with congenital cataracts? (2)
- Central shadow
- Completely obscure red reflex
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
what happens if NIPE eye screening outcome is positive?
- Assessment by consultant opthalmologist
- Surgery for severe cataracts (6-10 weeks)
What categories of congenital heart problems does NIPE screen for?
- Critical congenital heart disease (CCHD)
- Major serious conditions
What are critical congenital heart diseases and when do they need intervention?
potentially life threatening duct-dependant conditions
- require procedure <28 days of life
When do major serious CHD require intervention?
require invasive intervention <1 yr of life
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
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
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
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)
NIPE cardiac screening: where should you auscultate?
- 2nd ICS (L)
- 2ns ICS (R)
- Lower left sternal border (4th ICS)
- Apex
- Midscapulae
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
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)
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
what manoeuvre screens for a dislocatable hip?
Barlow manouvre
What manoeuvre screens for an already dislocated hip?
Ortolani manoeuvre
what does NIPE screening of testes screen for?
- Bilateral undescended testes
- Unilateral undescended testes
What are the complications of undescended testes?
- increases risk of testicular cancer
- Decreased fertility
- Other urogenital problems
NIPE: undescended testicules RF?
- 1st degree FHx of undescended testes (father or brother)
- Low birth weight
- SGA
- preterm birth
NIPE examination of testes: what do you observe for?
observe scrotum for symmetry, size and colour
NIPE examination of testes: what do you palpate for?
- Scrotal sac
- palpation of inguinal canal
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
NIPE examination of testes: what do you do if abby has bilateral undescended testes?
refer to specialist (senior paediatrician) within 24 hrs
