Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

Ozben T.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE, cilt.51, sa.1, ss.157-176, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 51 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1515/cclm-2012-0472
  • Dergi Adı: CLINICAL CHEMISTRY AND LABORATORY MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.157-176
  • Anahtar Kelimeler: confirmatory follow-up testing, expanded newborn screening, inborn errors of metabolism, tandem mass spectrometry, DRIED-BLOOD SPOTS, LYSOSOMAL STORAGE DISORDERS, SYRUP-URINE-DISEASE, ENZYMATIC DIAGNOSIS, RETROSPECTIVE DIAGNOSES, COST-EFFECTIVENESS, RAPID DIAGNOSIS, FILTER-PAPER, DIRECT ASSAY, TYROSINEMIA
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Newborn screening (NBS) of inborn errors of metabolism (IEM) is a coordinated comprehensive system consisting of education, screening, follow-up of abnormal test results, confirmatory testing, diagnosis, treatment, and evaluation of periodic outcome and efficiency. The ultimate goal of NBS and follow-up programs is to reduce morbidity and mortality from the disorders. Over the past decade, tandem mass spectrometry (MS/MS) has become a key technology in the field of NBS. It has replaced classic screening techniques of one-analysis, one-metabolite, one-disease with one analysis, many-metabolites, and many-diseases. The development of electrospray ionization (ESI), automation of sample handling and data manipulation have allowed the introduction of expanded NBS for the identification of numerous conditions on a single sample and new conditions to be added to the list of disorders being screened for using MS/MS. In the case of a screened positive result, a follow-up analytical test should be performed for confirmation of the primary result. The most common confirmatory follow-up tests are amino acids and acylcarnitine analysis in plasma and organic acid analysis in urine. NBS should be integrated with follow-up and clinical management. Recent improvements in therapy have caused some disorders to be considered as potential candidates for NBS. This review covers some of the basic theory of expanded MS/MS and follow-up confirmatory tests applied for NBS of IEM.