1 / 19

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

haruki
Download Presentation

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

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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 !

More Related