PMID- 24623702
OWN - NLM
STAT- MEDLINE
DCOM- 20141103
LR  - 20220317
IS  - 1097-0231 (Electronic)
IS  - 0951-4198 (Linking)
VI  - 28
IP  - 8
DP  - 2014 Apr 30
TI  - First experience with a fully automated extraction system for simultaneous 
      on-line direct tandem mass spectrometric analysis of amino acids and 
      (acyl-)carnitines in a newborn screening setting.
PG  - 965-73
LID - 10.1002/rcm.6856 [doi]
AB  - RATIONALE: For Newborn Screening (NBS) programs all over the world whole blood 
      dried on filter paper, also referred to as dried blood spots (DBS), has been the 
      standard specimen for decades. In recent years DBS have attracted the attention 
      of pharmaceutical companies, mostly due to the low volume of collected sample and 
      simplified, therefore more cost-efficient, transportation requirements. However, 
      the classical NBS workflow did not totally fulfil the needs of their studies, 
      especially with respect to high-throughput unassisted sample processing for 
      tandem mass spectrometric (MS/MS) analysis. Automated on-line extraction systems 
      for direct analysis have already been tested and proved to be suitable for these 
      pharmaceutical applications. METHODS: The suitability of the automated CAMAG 
      DBS-MS 500 interface for simultaneous detection of amino acids and 
      (acyl-)carnitines has been tested together with an Acquity TQD tandem mass 
      spectrometer from Waters and MassChrom stable isotope labelled internal standards 
      from Chromsystems. No chromatographic sample treatment was applied; instead, the 
      extract was directly injected into the MS/MS instrument. The feasibility of the 
      instrumental setting for the routine newborn screening was tested on original 
      samples coming from previously diagnosed patients. RESULTS: The performance of 
      the automated extraction technique and its application in preliminary 
      quantitative screening for amino acids and (acyl-)carnitines for NBS showed very 
      promising results. Several samples from patients, each diagnosed with one of four 
      different inborn errors of metabolism (IEM), were tested and the correlation with 
      the conventional punch-and-elute approach was very good. CONCLUSIONS: Although 
      the presented method still needs further optimization, our study clearly shows 
      the possibility to use direct on-line analysis in the NBS setting. Our report on 
      direct on-line analysis of newborn samples is a first approach in the development 
      of a fully automated screening method for NBS analysis. With regard to the 
      chemical properties of the analytes, the study resulted in a readily applicable 
      screening method.
CI  - Copyright (c) 2014 John Wiley & Sons, Ltd.
FAU - Fingerhut, Ralph
AU  - Fingerhut R
AD  - Swiss Newborn Screening Laboratory, Children;s Research Center, University 
      Children's Hospital, Zurich, Switzerland.
FAU - Silva Polanco, Maria Lucia
AU  - Silva Polanco ML
FAU - Silva Arevalo, Gabriel De Jesus
AU  - Silva Arevalo Gde J
FAU - Swiderska, Magdalena A
AU  - Swiderska MA
LA  - eng
PT  - Journal Article
PL  - England
TA  - Rapid Commun Mass Spectrom
JT  - Rapid communications in mass spectrometry : RCM
JID - 8802365
RN  - 0 (Amino Acids)
RN  - 0 (acylcarnitine)
RN  - S7UI8SM58A (Carnitine)
SB  - IM
MH  - Amino Acids/*blood
MH  - Carnitine/*analogs & derivatives/blood
MH  - Dried Blood Spot Testing/methods
MH  - Equipment Design
MH  - Humans
MH  - Infant, Newborn
MH  - Neonatal Screening/*methods
MH  - Tandem Mass Spectrometry/*methods
EDAT- 2014/03/14 06:00
MHDA- 2014/11/05 06:00
CRDT- 2014/03/14 06:00
PHST- 2013/11/11 00:00 [received]
PHST- 2014/01/19 00:00 [revised]
PHST- 2014/01/26 00:00 [accepted]
PHST- 2014/03/14 06:00 [entrez]
PHST- 2014/03/14 06:00 [pubmed]
PHST- 2014/11/05 06:00 [medline]
AID - 10.1002/rcm.6856 [doi]
PST - ppublish
SO  - Rapid Commun Mass Spectrom. 2014 Apr 30;28(8):965-73. doi: 10.1002/rcm.6856.