Recent developments and new applications of tandem mass spectrometry in newborn screening

Piero Rinaldo, Silvia Tortorelli, Dietrich Matern

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

Purpose of review: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform. Recent findings: Novel inborn errors of metabolism with informative amino acid and/or acylcarnitine profiles have been characterized, increasing the complexity of the differential diagnosis of abnormal results. In addition, methods have been developed for the analysis in dried blood spots of steroids and lysosomal enzymes. Previously unrecognized genotype/phenotype correlations have been found among cohorts of patients whose conditions were diagnosed by screening rather than clinically. Several government entities and professional organizations have issued position statements on newborn screening, and worldwide outcome studies continue to underscore the clinical and financial benefits of expanded newborn screening. Summary: 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. This technology is also used to detect disease markers beyond acylcarnitines and amino acids, as both primary and second-tier tests. In addition to analytic improvements, there is a trend toward the development of joint programs not limited to contiguous geographic areas, often based upon public-private partnerships. This review will summarize several new developments in the field that have occurred since early 2003 and will mention others likely to occur in the near future.

Original languageEnglish (US)
Pages (from-to)427-433
Number of pages7
JournalCurrent Opinion in Pediatrics
Volume16
Issue number4
DOIs
StatePublished - Aug 2004

Fingerprint

Tandem Mass Spectrometry
Newborn Infant
Dried Blood Spot Testing
Public-Private Sector Partnerships
Amino Acids
Inborn Errors Metabolism
Program Development
Genetic Association Studies
Differential Diagnosis
Steroids
Outcome Assessment (Health Care)
Technology
Enzymes
acylcarnitine

Keywords

  • New inborn errors of metabolism
  • Newborn screening
  • Second tier test
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Recent developments and new applications of tandem mass spectrometry in newborn screening. / Rinaldo, Piero; Tortorelli, Silvia; Matern, Dietrich.

In: Current Opinion in Pediatrics, Vol. 16, No. 4, 08.2004, p. 427-433.

Research output: Contribution to journalArticle

Rinaldo, Piero ; Tortorelli, Silvia ; Matern, Dietrich. / Recent developments and new applications of tandem mass spectrometry in newborn screening. In: Current Opinion in Pediatrics. 2004 ; Vol. 16, No. 4. pp. 427-433.
@article{a0a0c2bf525b48c38814da561a573011,
title = "Recent developments and new applications of tandem mass spectrometry in newborn screening",
abstract = "Purpose of review: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform. Recent findings: Novel inborn errors of metabolism with informative amino acid and/or acylcarnitine profiles have been characterized, increasing the complexity of the differential diagnosis of abnormal results. In addition, methods have been developed for the analysis in dried blood spots of steroids and lysosomal enzymes. Previously unrecognized genotype/phenotype correlations have been found among cohorts of patients whose conditions were diagnosed by screening rather than clinically. Several government entities and professional organizations have issued position statements on newborn screening, and worldwide outcome studies continue to underscore the clinical and financial benefits of expanded newborn screening. Summary: 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. This technology is also used to detect disease markers beyond acylcarnitines and amino acids, as both primary and second-tier tests. In addition to analytic improvements, there is a trend toward the development of joint programs not limited to contiguous geographic areas, often based upon public-private partnerships. This review will summarize several new developments in the field that have occurred since early 2003 and will mention others likely to occur in the near future.",
keywords = "New inborn errors of metabolism, Newborn screening, Second tier test, Tandem mass spectrometry",
author = "Piero Rinaldo and Silvia Tortorelli and Dietrich Matern",
year = "2004",
month = "8",
doi = "10.1097/01.mop.0000133635.79661.84",
language = "English (US)",
volume = "16",
pages = "427--433",
journal = "Current Opinion in Pediatrics",
issn = "1040-8703",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Recent developments and new applications of tandem mass spectrometry in newborn screening

AU - Rinaldo, Piero

AU - Tortorelli, Silvia

AU - Matern, Dietrich

PY - 2004/8

Y1 - 2004/8

N2 - Purpose of review: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform. Recent findings: Novel inborn errors of metabolism with informative amino acid and/or acylcarnitine profiles have been characterized, increasing the complexity of the differential diagnosis of abnormal results. In addition, methods have been developed for the analysis in dried blood spots of steroids and lysosomal enzymes. Previously unrecognized genotype/phenotype correlations have been found among cohorts of patients whose conditions were diagnosed by screening rather than clinically. Several government entities and professional organizations have issued position statements on newborn screening, and worldwide outcome studies continue to underscore the clinical and financial benefits of expanded newborn screening. Summary: 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. This technology is also used to detect disease markers beyond acylcarnitines and amino acids, as both primary and second-tier tests. In addition to analytic improvements, there is a trend toward the development of joint programs not limited to contiguous geographic areas, often based upon public-private partnerships. This review will summarize several new developments in the field that have occurred since early 2003 and will mention others likely to occur in the near future.

AB - Purpose of review: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform. Recent findings: Novel inborn errors of metabolism with informative amino acid and/or acylcarnitine profiles have been characterized, increasing the complexity of the differential diagnosis of abnormal results. In addition, methods have been developed for the analysis in dried blood spots of steroids and lysosomal enzymes. Previously unrecognized genotype/phenotype correlations have been found among cohorts of patients whose conditions were diagnosed by screening rather than clinically. Several government entities and professional organizations have issued position statements on newborn screening, and worldwide outcome studies continue to underscore the clinical and financial benefits of expanded newborn screening. Summary: 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. This technology is also used to detect disease markers beyond acylcarnitines and amino acids, as both primary and second-tier tests. In addition to analytic improvements, there is a trend toward the development of joint programs not limited to contiguous geographic areas, often based upon public-private partnerships. This review will summarize several new developments in the field that have occurred since early 2003 and will mention others likely to occur in the near future.

KW - New inborn errors of metabolism

KW - Newborn screening

KW - Second tier test

KW - Tandem mass spectrometry

UR - http://www.scopus.com/inward/record.url?scp=3442875863&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=3442875863&partnerID=8YFLogxK

U2 - 10.1097/01.mop.0000133635.79661.84

DO - 10.1097/01.mop.0000133635.79661.84

M3 - Article

C2 - 15273505

AN - SCOPUS:3442875863

VL - 16

SP - 427

EP - 433

JO - Current Opinion in Pediatrics

JF - Current Opinion in Pediatrics

SN - 1040-8703

IS - 4

ER -