1. PaediatricScreening
Condition Who? How? Why? What next?
Rubella Pregnant
Women
Blood test Un-immune women,if become exposed
theychildmaydevelopFoetal Rubella
Syndrome.
Woman can be counselledonavoidingcontact.Offer
vaccine postbirth.
Syphilis Pregnant
Women
Blood test Can be passedon tounbornchild Can provide antibioticstomotherandchild
HIV Pregnant
Women
Blood test Can be passedon tounbornchild (1/25) Treat motherandavoidtransmissiontochildvianot
breastfeedingetc. Reduce riskto1/100.
HepatitisB Pregnant
Women
Blood test Can be passedon tounbornchild Treat Motherand Immunise childatbirth,1,2,and12
months
Down'sSyndrome Embryo Bloodtestand
neucal scan
Early detectioncanenable terminationof
pregnancyor parentsto planahead.
1/100 in>40years.
ConfirmdiagnosiswithCVSorAmniocentesis.
Counsel parents
Foetal AnomalyScan Foetus 20wk USS Early detectioncanenable terminationof
pregnancyor parentsto planahead
Counsellingof parent,involvespecialists.
Haemoglobinopathies
e.g.sicklecell and
thalassaemia
Pregnant
Women
Bloodtestof
at risk
Early detectioncanenable terminationof
pregnancyor parentsto planahead
Counsel parents,potentiallyofferdefinitivediagnosis
Hypothyroidism Newborn Newborn
bloodspottest
1/4000 Delayeddiagnosiscanleadto
creatinism
Treat earlywiththyroxine toenablenormal
development
CysticFibrosis Newborn Newborn
bloodspottest
1/2500 Early diagnosisresultsinprompt
treatmentand betterprognosis
ConfirmdiagnosisandReceive earlytreatment
SickleCell Newborn Newborn
bloodspottest
1/2000 Early treatment
Phenylketoneuria Newborn Newborn
bloodspottest
1/10,000. Can't processphenylalanine
resultinginmental disability
Restricteddiet
Med-chainacyl-coA Newborn Newborn 1/10,000 Can't breakdownfatssocan Special diet,eatregularly.

2. dehydrogenase
deficiencyMCADD
bloodspottest become seriouslyill
Deafness Newborn Automated
Otoacoustic
Emission
(AOAE)
Early diagnosis resultsinprompt
treatmentandbetterprognosis 1/1000
Repeattestor do AutomatedAuditoryBrainstem
response test.Earlyreferal toaudiologyforsupport
and management
Visual Problems School
Children
Sighttests Early diagnosisandtreatment Appropriate treatment
Obesity Heightand
weightat6
and 11yrs
Recognise problemandsignpost Signpost
Chlamydia 16-24yr olds Swab/Urine
sample
Enable diagnosisandprompttreatment.
Preventsdamage due tochlamydiae.g.
infertilityandPID
TreatmentandContact tracing
NewbornandInfant
Physical Exam
Newborns Physical exam Eyes- 1/5000 have probleme.g.cataract
Heart - 1/200
Hips- 1/1000
Testicles - 1/100
Enableschildtobe referredtospecialistforfurther
diagnosticsandpossibleearlyinterventions.

3. Foetal Anomaly Scan