1. Newborn Screening Dr Simon Fraser Senior Paediatrician (Latrobe Regional Hospital) Neonatal Advisor (Maternity and Newborn Clinical Network)

2. Newborn Screening Newborn screening (heel prick) test
Hearing screening
Newborn and 6 week examination

3. Screening – principles
Serious disorder
Sufficient frequency to be cost effective
Cheap reliable screening test available
Early treatment/intervention beneficial
Consequences of non-treatment severe

4. Newborn screening (heel prick) test
Not diagnostic
Follow up testing required for abnormal results
Not every affected child detected
A screened condition that is suspected should always be tested formally
Timing of sampling important
Infant’s care giver will not be notified if the test is normal

5. Conditions screened Phenylketonuria (since 1965)
Congenital hypothyroidism (since 1977)
Cystic fibrosis (since 1989)
Various inborn errors of metabolism (since 2002)
MCAD (medium chain acyl CoA dehydrogenase deficiency most common
Over 20 other rarer conditions

6. Pre-test procedure Parents given information leaflet
Newborn screening test discussed
Screening for many conditions
May have to give second sample
Most second samples within normal range
Parents contacted if further testing necessary
Consent on screening card (process if refused)
All babies should be tested

7. Sample collection Information completed prior to test
Sucrose for procedural pain management
Blood collected hours (not “day 2”)
Capillary blood sampling preferable
All 4 circles need to be completely filled
Air dry in room temperature for 4 hours
Avoid contamination

8. Special circumstances
Total parenteral nutrition
Palliated infants
Having received blood products
In utero blood transfusions
Extremely low birthweight or premature infants
Tables provide guidance for these

9. Further information Neonatal Handbook RCH Clinical Guidelines
RCH Clinical Guidelines
Victorian Clinical Genetic Services
Newborn Screening Laboratory

10. Hearing Screening
Aims to identify babies born with hearing impairment even if not at risk
Not diagnostic – positive result requires formal testing
1 in 1000 babies have permanent, moderate, severe or profound hearing loss at birth
Technology easy, quick, reliable and immediate

11. Benefits of early diagnosis
Improved language skills
Education
Social development
Emotional development

12. Process Automated auditory brainstem response (AABR) Painless
Non-invasive
Both ears checked simultaneously
Takes about 4-7 minutes

13. Who is screened? Statewide
Victorian Infant Hearing Screening Programme
All babies within 1 month of age
Most screened within 2 days of age (can be as young as 6 hours)
Can be done after discharge
Can be done down to 34 weeks (but usually closer to discharge)

14. Risk factors for hearing loss
Meningitis/encephalitis
Jaundice requiring exchange transfusion
Ventilation > 5 days
Aminoglycoside therapy > 3 days
Congenital abnormality of head/neck
Syndrome known to be related to hearing loss
Close family history congenital hearing impairment
Maternal infections during pregnancy (TORCH)

15. Referral to audiology (newborn)
Diagnostic test
Audiologist
4 - 6 weeks of age
Referral made by VIHSP Coordinator
Ongoing supports with diagnosis
Reminders in green book at 2, 4 and 8 week visits (if not already done)

16. Referral to audiology (infant)
VIHSP audiology referral form
Can be used if need for assessment has changed
Discuss hearing screen again at 8 months
Refer if passed newborn screen with risk factor
Refer if passed newborn screen with no risk factors but risk factor(s) now developed

17. Further information Neonatal Handbook
Victorian Infant Hearing Screening Program
MCH Service

18. Newborn and 6 week examination - equipment
Stethoscope (cleaned)
Ophthalmoscope
Torch
Tongue depressor
Tape measure

19. Growth Must measure: (Birth) weight (Birth) length
(Birth) head circumference
Plot for gestational age (usually known)
Gestational age assessment charts available
Need to correct for prematurity (if < 37/40)

20. Abnormal posture, tone, movements
Floppy
Stiff
Asymmetry (Erb’s palsy)
Jitters
Seizures

21. Skull/scalp Abnormal shape – transient vs. fixed
Fontanelles and sutures
Lumps
cephalhaematoma (common)
congenital malformations (very rare)
Plagiocephaly

22. Eyes Subconjunctival haemorrhage Conjunctivitis Sticky eye
Red eye reflex – must be checked in all babies
Cataracts
White reflex
Pigmented babies
Unusually large eyes (glaucoma)

23. Mouth
Asymmetry – facial palsy, congenital hypoplasia depressor anguli oris (wry smile)
Natal teeth
Tongue
Cysts
Cleft – only reliable way of excluding a soft palate cleft is to look

24. Neck Torticollis (sternomastoid ‘tumour’) – usually occurs later Cysts
Webbing
Fractured clavicle – lump +/- crepitus

25. Cardiac examination Apex beat Heaves Murmurs Femoral pulses
(Four limb) blood pressure
Heart failure – tachy x2 (-cardia, -pnoea) and megaly x2 (cardio-, hepato-)

26. Chest Signs of respiratory distress Colour Stridor Wheeze
Symmetrical breath sounds
Added sounds
Crackles

27. Abdomen Organomegaly (ballot kidneys) Distension
Two vessel cord (association with renal anomalies)
Omphalitis
Umbilical hernia
Anus (must actively look)

28. Genitalia Male: Female: Ambiguity
Hypospadias (dorsal hood, ventral meatus, chordee)
Testes
Hydrocoeles
Female:
Clitoromegaly
Discharge (white, blood)
Ambiguity

29. Lower limbs Hips: Feet: Toes:
Risk factors – breech, first degree relative, other limb deformity, spina bifida
Feet:
Talipes – equinovarus and calcaneovalgus
Metatarsus adductus
Toes:
syndactyly

30. Examination - actively check
Measure and plot
Red eye reflex
Cleft palate
Murmurs
Femoral pulses
Hips
Genital abnormalities and ambiguity
Anus