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Newborn Screening
Dr Simon Fraser
Senior Paediatrician (Latrobe Regional Hospital)
Neonatal Advisor(Maternity and Newborn Clinical Network)
Newborn Screening
• Newborn screening (heel prick) test• Hearing screening• Newborn and 6 week examination
Screening – principles
• Serious disorder• Sufficient frequency to be cost effective• Cheap reliable screening test available• Early treatment/intervention beneficial• Consequences of non-treatment severe
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
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
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
Sample collection
• Information completed prior to test• Sucrose for procedural pain management• Blood collected 48-72 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
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
Further information
• Neonatal Handbook– www.netsvic.org.au/nets/handbook
• RCH Clinical Guidelines– www.rch.org.au/clinicalguide
• Victorian Clinical Genetic Services– www.genetichealthvic.net.au
• Newborn Screening Laboratory– www.vcgspathology.com.au/NBS
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
Benefits of early diagnosis
• Improved language skills• Education• Social development• Emotional development
Process
• Automated auditory brainstem response (AABR)
• Painless• Non-invasive• Both ears checked simultaneously• Takes about 4-7 minutes
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)
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)
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)
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
Further information
• Neonatal Handbook– www.netsvic.org.au/nets/handbook
• Victorian Infant Hearing Screening Program– www.vihsp.org.au
• MCH Service– www.education.vic.gov.au/mchservice
Newborn and 6 week examination - equipment
• Stethoscope (cleaned)• Ophthalmoscope• Torch• Tongue depressor• Tape measure
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)
Skull/scalp
• Abnormal shape – transient vs. fixed• Fontanelles and sutures • Lumps– cephalhaematoma (common)– congenital malformations (very rare)
• Plagiocephaly
Eyes
• Subconjunctival haemorrhage• Conjunctivitis• Sticky eye• Red eye reflex – must be checked in all babies– Cataracts– White reflex– Pigmented babies
• Unusually large eyes (glaucoma)
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
Neck
• Torticollis (sternomastoid ‘tumour’) – usually occurs later
• Cysts• Webbing• Fractured clavicle – lump +/- crepitus
Cardiac examination
• Apex beat• Heaves• Murmurs• Femoral pulses• (Four limb) blood pressure• Heart failure – tachy x2 (-cardia, -pnoea) and
megaly x2 (cardio-, hepato-)
Chest
• Signs of respiratory distress• Colour• Stridor• Wheeze• Symmetrical breath sounds• Added sounds– Wheeze– Crackles
Abdomen
• Organomegaly (ballot kidneys)• Distension• Two vessel cord (association with renal
anomalies)• Omphalitis• Umbilical hernia• Anus (must actively look)
Genitalia
• Male:– Hypospadias (dorsal hood, ventral meatus,
chordee)– Testes– Hydrocoeles
• Female:– Clitoromegaly– Discharge (white, blood)
• Ambiguity
Lower limbs
• Hips:– Risk factors – breech, first degree relative, other
limb deformity, spina bifida– www.ddheducation.com
• Feet:– Talipes – equinovarus and calcaneovalgus– Metatarsus adductus
• Toes:– syndactyly