Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 341–348

Expanded newborn screening in Greece: 30 months of experience

  • Yannis L. Loukas
  • Georgios-Stefanos Soumelas
  • Yannis Dotsikas
  • Vassiliki Georgiou
  • Elina Molou
  • Georgia Thodi
  • Maria Boutsini
  • Sofia Biti
  • Konstantinos Papadopoulos
Research Report

DOI: 10.1007/s10545-010-9181-8

Cite this article as:
Loukas, Y.L., Soumelas, GS., Dotsikas, Y. et al. J Inherit Metab Dis (2010) 33: 341. doi:10.1007/s10545-010-9181-8

Abstract

In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence listed in the Catalogue of Disorders screened by the ICH. Our laboratory has expanded the existing NBS program to include newborn screening for inborn errors of metabolism, screening for cystic fibrosis (the most common congenital disorder in the Greek population), congenital adrenal hyperplasia, and for biotinidase deficiency. From July 2007 to December 2009, 45,000 dried blood spots (DBS) were collected from infants born in Athens, Greece, and were analyzed. We present a report of our 30-month experience in the newborn screening area. The samples were tested for amino acidopathies, fatty acid oxidation disorders (FAOD), and organic acid metabolic disorders by applying flow injection analysis–electrospray ionization–tandem mass spectrometry (FIA-ESI-MS/MS); for cystic fibrosis by immunoreactive trypsinogen (IRT) measurement (time-resolved fluoroimmunoassay); for congenital adrenal hyperplasia by fluoroimmunoassay to measure the 17 hydroxy-progesterone level; and for biotinidase deficiency using a colorimetric method and a semiquantitative fluoroimmunoassay to determine biotinidase activity. Sample analysis resulted in establishing cutoff values for the respective disease markers for the first time in the Greek population. Four infants were identified with cystic fibrosis, two with congenital adrenal hyperplasia, two with phenylketonuria (PKU), one with medium-chain acyl CoA dehydrogenase deficiency (MCADD), and one with biotinidase deficiency. To the best of our knowledge, this is the first article reporting the status of expanded newborn screening in Greece.

Abbreviations

17-OHP

17-hydroxyprogesterone

ACN

acetonitrile

API

atmospheric pressure ionization

CAH

congenital adrenal hyperplasia

CDC

Centers for Disease Control and Prevention

CF

cystic fibrosis

CFTR

cystic fibrosis transmembrane conductance regulator

DBS

dried blood spot(s)

ELOT

Hellenic Organisation of Standardisation

ESI

electrospray ionization

ESYD

Hellenic Accreditation System

FAOD

fatty-acid oxidation disorders

FIA

flow injection analysis

FYROM

Former Yugoslav Republic of Macedonia

G6PD

glucose-6-phosphate dehydrogenase

GC/MS

gas chromatography/mass spectrometry

H2O

water

ICH

Institute of Child Health

IMDs

inherited metabolic disorders

IMH

IASO Maternity Hospital

IRT

immunoreactive trypsinogen

ISO

International Standards Organisation

LC-MS/MS

liquid chromatography/tandem mass spectrometry

MS/MS

tandem mass spectrometry

NBS

newborn screening

OMIM

Online Mendelian Inheritance in Man database

PCR

polymerase chain reaction

SUAC

succinylacetone

TNT

transient neonatal tyrosinemia

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Yannis L. Loukas
    • 1
  • Georgios-Stefanos Soumelas
    • 1
  • Yannis Dotsikas
    • 1
  • Vassiliki Georgiou
    • 2
  • Elina Molou
    • 2
  • Georgia Thodi
    • 2
  • Maria Boutsini
    • 3
  • Sofia Biti
    • 3
  • Konstantinos Papadopoulos
    • 3
  1. 1.Division of Pharmaceutical Chemistry, School of PharmacyUniversity of AthensAthensGreece
  2. 2.Laboratory of Prenatal and Neonatal ScreeningAthensGreece
  3. 3.Obstetrics and Gynaecology Hospital DiagnosticTherapeutic and Research CenterGR-151 23AthensGreece