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 normal be notified if the test is

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)

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 – – 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

Examination - actively check

• • • • • • • • Measure and plot Red eye reflex Cleft palate Murmurs Femoral pulses Hips Genital abnormalities and ambiguity Anus