Ralph Fingerhut

Update Neugeborenenscreening: Neue Zielkrankheiten seit 2025

Ralph Fingerhut

Das Neugeborenenscreening wurde in diesem Jahr um vier weitere Ziel­erkrankungen erweitert: Die Propionazidämie, die Methylmalonazidämie, die Homozystinurie und der Vitamin-B12-Mangel wurden neu aufgenommen. Außerdem wurden einige Prozessabläufe grundlegend neu vom Gemeinsamen Bundesausschuss neu geregelt: Die Verantwortung der Befund­übermittlung und des Tracking wurden …

A 25-Year Retrospective on Bavaria’s Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up

Uta Nennstiel, Inken Brockow, Birgit Odenwald, Carola Marzi et autres

The German federal state of Bavaria implemented newborn screening (NBS) using dried blood spots (DBS) as an integrated public health programme with centralised coordination. The Bavarian NBS Centre collaborates with NBS laboratories, obstetric and paediatric facilities, specialised centres of expertise, and parents. …

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Ten-Year Anniversary of the International Journal of Neonatal Screening: Revisiting Its Scope

Ralph Fingerhut, Peter C. J. I. Schielen

The 10th anniversary of the International Journal of Neonatal Screening (IJNS) was celebrated on 25 March 2025, during the 13th Regional European Meeting of the International Society of Neonatal Screening (ISNS) in Luxembourg [...]

The effects of age and sex on reference intervals for cobalamin, homocysteine, and serum and urinary methylmalonic acid in healthy adult dogs

Anna‐Lena Proksch, V Dreller, Judith Langenstein, Ralph Fingerhut et autres

Abstract Background In dogs, data on reference intervals (RIs) for cobalamin, markers of metabolism (markersB12met), age and sex effects are limited. Hypothesis/Objectives Establish RI for serum cobalamin, homocysteine, and methylmalonic acid (sMMA) concentrations, urinary methylmalonic acid-to-creatinine ratio (uMMA:crea), and determine effects of …

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Prevalence of Transient Hypothyroidism in Children Diagnosed with Congenital Hypothyroidism between 2000 and 2016

Sabrina Gmür, Daniel Konrad, Ralph Fingerhut

Newborn screening (NBS) for congenital hypothyroidism (CH) was introduced in Switzerland in 1977, which allowed for the preclinical, biochemical diagnosis. The aim of this study was to evaluate the prevalence of transient CH (tCH) in the canton of Zurich. In this analytical …

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Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis

Ralph Fingerhut, Corina S. Rueegg, Orell Imahorn, Eva S.L. Pedersen et autres

OBJECTIVE: Newborn screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011 based on an immunoreactive trypsinogen (IRT)-DNA-IRT protocol. CF diagnosis was confirmed by sweat test and/or genetics but remained inconclusive for some newborns (cystic fibrosis transmembrane conductance regulator related …

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Update Neugeborenenscreening: Neue Zielkrankheiten

Ralph Fingerhut

Seit Oktober 2021 werden in Deutschland alle Neugeborenen neben den bisherigen 14 Zielerkrankungen zusätzlich auf die Spinale Muskelatrophie (SMA) und die Sichelzellkrankheit (SCD) gescreent. Die Einführung des SMA-Screenings stellt einen grundlegenden Paradigmenwechsel dar, weil hier zum ersten Mal das Screening primär und …

Newborn Screening for Inborn Errors of Metabolism

Ralph Fingerhut, Janice M. Fletcher, Enzo Ranieri

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Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder et autres

There was an error in the original publication [...].

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The Editor’s Choice for Issue 3, Volume 7

Ralph Fingerhut

Dear Readers: Choosing one paper from a total of 28 papers published in the third issue of Volume 7 was quite a challenge [...].

Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms

Ralph Fingerhut

Newborn screening (NBS) for congenital hypothyroidism (CH) started in the 1970s, with the introduction of radioimmuno assays (RIA) for the measurement of thyroxine (T4), and thyroid stimulating hormone (TSH). With the development of sensitive enzyme immune assays (EIA, FIA, FEIA), RIAs were …

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Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder et autres

gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of glutarylcarnitine (C5DC) in dried blood spots (DBS). Here we report four cases from three families in whom a correctly performed NBS did not detect the condition. Glutarylcarnitine …

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