Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 341–348 | Cite as

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


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.







atmospheric pressure ionization


congenital adrenal hyperplasia


Centers for Disease Control and Prevention


cystic fibrosis


cystic fibrosis transmembrane conductance regulator


dried blood spot(s)


Hellenic Organisation of Standardisation


electrospray ionization


Hellenic Accreditation System


fatty-acid oxidation disorders


flow injection analysis


Former Yugoslav Republic of Macedonia


glucose-6-phosphate dehydrogenase


gas chromatography/mass spectrometry




Institute of Child Health


inherited metabolic disorders


IASO Maternity Hospital


immunoreactive trypsinogen


International Standards Organisation


liquid chromatography/tandem mass spectrometry


tandem mass spectrometry


newborn screening


Online Mendelian Inheritance in Man database


polymerase chain reaction




transient neonatal tyrosinemia



The authors are thankful to Dr. Mohamed S. Rashed from King Faisal Specialist Hospital in Riyadh, Saudi Arabia, for providing frozen DBS and lyophilized urine specimens from newborns with confirmed disorders and particularly for his collaboration and consultation in newborn screening matters. The authors also thank Dr. Piero Rinaldo from Mayo Clinic and Dr. Bruno Casetta from Applied Biosystems for their fruitful comments and advice.


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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

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