Entwicklungen und Trends massenspektrometrischer Applikationen für das Neugeborenenscreening

U. Ceglarek; S. Becker; J. Thiery

doi:10.1055/s-0038-1629184

Kinder- und Jugendmedizin, Inhaltsverzeichnis

Kinder- und Jugendmedizin 2012; 12(02): 104-108
DOI: 10.1055/s-0038-1629184

Neugeborenenscreening

Schattauer GmbH

Entwicklungen und Trends massenspektrometrischer Applikationen für das Neugeborenenscreening

Trends and developments of mass spectrometric applications in newborn screening

Authors

U. Ceglarek

¹ Institut für Laboratoriumsmedizin, Klinische Chemie und Molekulare Diagnostik, Universitätsklinikum Leipzig
S. Becker

¹ Institut für Laboratoriumsmedizin, Klinische Chemie und Molekulare Diagnostik, Universitätsklinikum Leipzig
J. Thiery

¹ Institut für Laboratoriumsmedizin, Klinische Chemie und Molekulare Diagnostik, Universitätsklinikum Leipzig

Abstract

Zusammenfassung

Mit der Einführung der Tandem-Massenspektrometrie (MS/MS) für die Untersuchung von Aminosäuren und Acylcarnitinen im Rahmen des Neugeborenenscreenings (NGS) war es erstmals möglich, mit einem analytischen Test eine Vielzahl angeborener Stoffwechselstörungen zu erkennen. Aktuelle Entwicklungen auf dem Gebiet des NGS mit MS/MS liegen im „second-tier testing“, der Durchführung einer spezifischen tandemmassenspektrometrischen Folgediagnostik bei positivem Screeningergebnis aus der gleichen Filterpapierkarte (z. B. bei Ahornsiruperkrankung, Propion -azidurie, Adrenogenitales Syndrom). Daneben stehen nach der Entwicklung effektiver Therapiemöglichkeiten von einigen lysosomalen Speichererkrankungen tandemmassenspektrometrische Analysenverfahren für das Neugeborenenscreening aus Trockenblut zur Verfügung, die weltweit in verschiedenen Screeningprorgammen getestet werden. Im folgenden Beitrag werden neue analytische Konzepte auf Basis der Tandem-Massenspektrometrie für die Analytik aus Trockenblut und ihr Potenzial für das Neugeborenenscreening vorgestellt und diskutiert.

Summary

The introduction of tandem mass spectrometry in newborn screening programs enabled the screening of a number of inborn errors of metabolism within one single dried blood analysis. Recent developments in this field are mainly addressed to second-tier testings (e. g. for maple syrup urine disease, propionic aciduria, adrenogenital syndrome). In case of positive screening results a second mass spectrometric assay is applied using dried blood from the original filter paper card. The additional analysis often includes a chromatographic separation of other more specific disease-related markers. Main advantages of second-tier tests are the reduction of the false-postive results. The screening of lysosomal storage diseases by application of tandem mass spectrometry is another challenging development in the field of newborn screening. In this review new analytical concepts of LC-MS/MS for second-tier testing and the potential for screening of lysosomal storage will be discussed.

Schlüsselwörter

Neugeborenenscreening - second-tier testing - lysosomale Speichererkankungen - Tandem-Massenspektrometrie

Keywords

Newborn screening - second-tier tests - lysosomal storage diseases - tandem mass spectrometry

Volltext

Referenzen

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