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

This program aims to provide comprehensive newborn screening services, with data from ISNS showing significant impact. The program includes education, information dissemination, logistics, funding, short-term and long-term follow-up plans. The laboratory processing capabilities and key conditions like CH, CAH, PKU, Galactosemia are highlighted. The collaboration involves neonatologists, gynecologists, midwives, nurses, pediatricians, and general practitioners, emphasizing teamwork and coordination. Evaluation, coordination, and notification processes ensure timely intervention and treatment for affected newborns.

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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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