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Newborn Screening Global Evidences PD Dr. rer . nat. Ralph Fingerhut

Newborn Screening Global Evidences PD Dr. rer . nat. Ralph Fingerhut (FAMH – Clinical Chemistry). Data from ISNS. > 20%. no NBS. > 80%. <20%. > 20%. no NBS. > 80%. <20%. A Newborn Screening PROGRAMME for Kerala. 2. Education. Information - Parents

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Newborn Screening Global Evidences PD Dr. rer . nat. Ralph Fingerhut

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  1. Newborn Screening Global Evidences PD Dr. rer. nat. Ralph Fingerhut (FAMH – Clinical Chemistry)

  2. Data from ISNS > 20% no NBS > 80% <20%

  3. > 20% no NBS > 80% <20%

  4. A Newborn Screening PROGRAMMEforKerala 2. Education • Information • - Parents • - Neonatologist • - Gynecologists • - Mid-wifes • - Nurses • - Pediatricians • - General Practitioners 3. Logistics 4. Funding 6. Short-term follow-up 5. Laboratory 7. Long-term follow-up

  5. ICIEM 2003 - MS/MS satellite meeting Sydney 30th-31st August 2003 How many samples can be processed at one day / week / year ?

  6. CongenitalHypothyroidism (CH) > 160 mentalyretardedchildren / a Source: Dr. Hudson - http://phil.cdc.gov/phil/home.asp ID#: 5604 US Department of Health and Human Services, Gemeinfrei, https://commons.wikimedia.org/w/index.php?curid=1056927

  7. CongenitalAdrenalHyperplasia (CAH) 90% of CAH patientshavesalt-wasting Ratio girls / boysbeforeintroductionof NBS: 3 / 1 after introductionof NBS: 1 / 1

  8. CongenitalAdrenalHyperplasia (CAH) 48 cases / a 16 boysdead / a Untreated at theageof2½ Monaten After treatment

  9. Phenylketonuria (PKU) 50 mentalyretardedchildren / a

  10. MCAD deficiency Retrospektiv (n = 120) Somnolenz, Koma 84% Neurological Residualsympt. 40% Mortality20% 50 affectedchildren / a 10 dead 20 neurologicalsequela Iafolla AK et al. J Pediat, 1994, 124: 409-415 Prospektiv (n = 76) HospitalisationwithKoma 0.0% Psychomot. Retardation 0.13% Mortalität 0.26%

  11. LCHADD 10 cases/ a

  12. Glutaricaciduria Typ-I (GA-I) 6 severlyhandicappedchildren / a

  13. Biotinidasedeficiency ~ 15 mentalyretardedchildren / a ClassicalGalactosaemia ~ 10 may die / a

  14. Feedback Newborn Screening it`s not only a laboratorytest it`s a program Midwifes Gynaecologists Neonatologists local Pediatrician it`s Teamwork Screening Laboratory pediatric Specialists

  15. Gutachter Fördereinrichtung Beirat Health Insurance HealthMinistry Scientific Evaluation Beratung, Supervision, Evaluation Laboratory (privat) Screening Center ofPubHealth Coordination, Tracking, Epidemiologie 2 Hot-Lines (Nord/Süd) Regional Treatment Centers Birthclinics, Midwifes ConfirmatoryDiagnostics Healthauthorities

  16. inform the parents and responsible pediatrician and initiate therapy Notification in caseofhighlysuspectiveScreeningresult Screeninglaboratory CH CAH PKU Gal/GALT MCADD Biotinidase Def. CF responsible Endocrinologist responsible Metabolic-Centre responsible CF-Centre

  17. Thank you for your attention !

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