Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

@article{Chace2003UseOT,
  title={Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.},
  author={Donald H. Chace and Theodore A. Kalas and Edwin W. Naylor},
  journal={Clinical chemistry},
  year={2003},
  volume={49 11},
  pages={
          1797-817
        }
}
BACKGROUND Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening programs. MS/MS is rapidly replacing these one-analysis, one-metabolite, one-disease classic screening techniques with a one-analysis, many-metabolites, many-diseases approach that also facilitates the ability to add new disorders to existing newborn… 

Figures and Tables from this paper

Altered metabolism and newborn screening using tandem mass spectrometry: lessons learned from the bench to bedside.
TLDR
It has been nearly 20 years since the introduction of MS/MS analysis of dried blood spots from newborns and there have been many lessons learned in both the analytical approach as well as follow-up at the bedside.
Recent developments and new applications of tandem mass spectrometry in newborn screening
TLDR
Although it is done inconsistently, newborn screening in the United States is undergoing a rapid expansion driven by the introduction of tandem mass spectrometry in at least 34 state programs.
Tandem mass spectrometry as screening for inborn errors of metabolism
TLDR
Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantification of several metabolites as markers of many diseases, such as acylcarnitines and amino acids.
[Tandem mass spectrometry as screening for inborn errors of metabolism].
TLDR
Tandem mass spectrometry is rapidly replacing the classical screening techniques approach of one-metabolite detected per analysis per disease by its ability of simultaneous quantification of several metabolites as markers of many diseases, such as acylcarnitines and amino acids.
Mass spectrometry in newborn and metabolic screening: historical perspective and future directions.
  • D. Chace
  • Medicine
    Journal of mass spectrometry : JMS
  • 2009
TLDR
As MS continues to expand in clinical chemistry, it is clear that two features will drive its success; excellent selectivity and multiple analyte or profile analysis; features recognized in the 1950s and remain true today.
Newborn screening of metabolic disorders: recent progress and future developments.
TLDR
The ability to detect more than 40 conditions by a single test underscores the need to better understand the clinical and laboratory characteristics of the conditions being tested, and the complexity of pattern recognition and differential diagnoses of one or more elevated markers.
Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.
TLDR
MS/MS newborn screening has been shown to improve the outcome of patients affected by a number of inborn errors of metabolism, and new substrates have also been developed to measure the activity of lysosomal enzymes so lysOSomal storage diseases can be diagnosed by MS/MS method now.
Clinical chemistry and dried blood spots: increasing laboratory utilization by improved understanding of quantitative challenges.
TLDR
There are a small number of traditional clinical laboratories that use DBS in a diagnostic setting, primarily in specialized metabolic applications, further supporting that DBS utilization is not restricted to “screening” laboratories, nor does it involve relaxed laboratory standards.
...
...

References

SHOWING 1-10 OF 164 REFERENCES
Newborn screening by tandem mass spectrometry: gaining experience.
TLDR
The development and application of electrospray ionization (ESI) tandem MS with its ability to be automated made high-volume tandem MS screening for amino acid, organic acid, and fatty acid metabolic disorders practical by the mid-1990s.
Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group.
  • S. Grosse, W. H. Hannon
  • Medicine
    MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports
  • 2001
TLDR
The proposals contained in this report should assist policymakers, program managers, and laboratorians in making informed decisions regarding the process of including MS/MS technology in their newborn screening and maternal and child health programs.
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive,
Newborn screening by tandem mass spectrometry: a new era.
  • H. Levy
  • Medicine
    Clinical chemistry
  • 1998
TLDR
Newborn urine screening based on chromatography has been discontinued in two of the three places in which it was introduced, Australia and Massachusetts, remaining only in Quebec.
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
TLDR
More cases of inborn errors of metabolism are diagnosed by screening with tandem mass spectrometry than are diagnosed clinically, and which patients with disorders diagnosed by such screening would have become symptomatic if screening had not been performed.
Application of tandem mass spectrometry to biochemical genetics and newborn screening.
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.
TLDR
An efficient 96-well-microplate batch process for blood-spot sample preparation is introduced that can obtain high-quality profiles from 500-1000 samples per day per instrument and demonstrates its outstanding clinical sensitivity in flagging abnormal profiles and its high cumulative specificity.
Mass spectrometry-based diagnostics: the upcoming revolution in disease detection has already arrived.
TLDR
It is suggested that Petricoin and Liotta have a somewhat narrow view of MS applications in clinical chemistry limited to their area of expertise and the statement that MS-based approaches are disruptive and nonlinear is incorrect.
...
...