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Antenatal, Neonatal and Paeidiatric Screening in the UK

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Antenatal, Neonatal and Paeidiatric Screening in the UK

  1. 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. 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. 3. Foetal Anomaly Scan

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