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 RCH Clinical Guidelines 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)

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

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 Crackles

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

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

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

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