- freely available
International Journal of Neonatal Screening 2017, 3(3), 17; doi:10.3390/ijns3030017
2. Comparison of Specimen Types for Newborn Biochemical Screening
3. External Quality Assurance (EQA)
Conflicts of Interest
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|Urine||Cord Blood||DBS Collected at a Few Days of Age|
|Non-invasive sample collection.||Generally considered non-invasive.||Semi-invasive sample collection.|
|A small amount of skill may be needed to collect.||Sample collection requires some skill.||Requires skill to collect good bloodspots and to maintain skill by performing a minimum number per annum|
|Some contamination risk from faeces or creams on babies’ skin.||Contamination risk from maternal blood exists but is found to be at a low, acceptable rate in Belgian haemoglobinopathy studies  and English amino acid studies ||Some contamination risk from faeces and substances on babies’ skin or paper card.|
|Most experience from Quebec , Canada with urine collected onto plastic-backed absorbent pad then pressed onto filter paper, dried, as an expansion of pre-MSMS heel-prick blood screening.||Some experience worldwide.||Vast worldwide experience and many journal papers on the topic.|
|Can be collected at any age but routinely collected by parents at 21 days of age in Quebec following an instruction sheet .||Reflects babies’ biochemical milieu at birth which is influenced by mother’s metabolism and placenta for non-red cell analytes.|
Cannot be collected by parents.
|Can be collected at any age.|
Cannot be collected by parents.
|Can be liquid or dried if collected at home. Dried is more suitable for mailing.||Can be liquid or dried whole blood. Serum or whole blood may be analyzed.||Dried by definition. Liquid skin puncture blood has been used but is more suited to cool countries if mailed.|
|Risk of non-collection for individual babies if suitable birth records to cross-check and identify do not exist.||Risk of non-collection due to hectic activity with mother and child after the baby’s birth.||Risk of non-collection for individual babies if suitable birth records to cross-check and identify do not exist.|
|Many inherited disorders, organic acidaemias and amino acidaemias, can potentially be detected. Includes urea cycle disorders and organic acidurias, as well as transport disorders.||Some organic acidaemias have been identified due to abnormalities of acylcarnitine concentration [6,9].||At least 50 inherited disorders can be detected when high technology methods (e.g., tandem mass spectrometry) are used.|
|Low technology, inexpensive-multiplex thin layer chromatography may be used. High technology methodologies may also be used such as MSMS.||Low and high technology methodologies possible depending on the disorder.||Low and high technology methodologies possible, depending on the disorder.|
|Low concentrations of metabolites for some disorders such as PKU in the first few days of life may preclude early identification. Quebec moved the age of collection from 5 days age to 14 days of age and finally to 21 days to minimise the risk of false negatives and false positives . Late onset urea cycle defects thereby identified.||Lesser sensitivity for detection of the majority of disorders by metabolite accumulation compared to urine or dried skin puncture blood.||Greater sensitivity for detection of the majority of disorders compared to urine or cord blood|
|Sickle cell disease (SCD) cannot be detected||SCD and beta thalassaemia major screening successful and satisfactory in Belgian studies using capillary electrophoresis .||SCD and beta thalassaemia major screening successful and satisfactory by isoelectric focussing, capillary electrophoresis and tandem mass spectrometry for dried blood spots but not by discontinuous cellulose acetate electrophoresis (the latter will work on liquid specimens).|
|Congenital hypothyroidism (CHT) cannot readily be detected. Measurement of low excretions of fT4 and fT3 in a timed e.g. 24-h urine test impractical for mass screening and no reference data for neonates has been identified.||Primary CHT can be detected and compared well with early DBS screening in Toronto .|
Currently used for primary CHT screening in Singapore.
More recent study from Abu Dhabi with DELFIA reagents showed cord fT4 to be insensitive, cord TSH to be more sensitive but specificity poorer than DBS .
|Primary CHT can be detected.|
Apparent incidence is increasing relentlessly .
|Cystic fibrosis cannot be detected||Cystic fibrosis can potentially be detected as IRT is several fold higher in concentration than in peripheral blood , but sensitivity and specificity have not been determined.||Cystic fibrosis can be detected.|
|TRECs not identified in urine. SCID cannot be detected.||TRECs present in cord blood. SCID can be detected using this specimen.||SCID can successfully be detected|
|G6PD deficiency cannot be detected.||G6PD deficiency can successfully be detected .||G6PD deficiency can successfully be detected.|
|Congenital adrenal hyperplasia cannot readily be detected. Collection of timed e.g. 24-h urine for measurement of 17-hydroxyprogesterone excretions impractical for mass screening. Some reference data does exist for 3 days of age and older.||17-hydroxyprogesterone noted to be at a significantly higher concentration compared to blood taken at a few days of life. Some authors therefore consider this method not useful for newborn screening, others report that the measurement has potential. Reference concentrations exist.||Congenital adrenal hyperplasia can be successfully detected.|
|Classical galactosaemia can be detected by increased galactose excretion. Requires lactose ingestion .||Classical galactosaemia can be detected by erythrocyte galactose 1 phosphate transferase activity measurement.||Classical galactosaemia may be successfully identified.|
|Specimen||EQA Scheme||Free of Charge?||Website Details|
|Dried blood spots||Centers for Disease Control Newborn Screening Quality Assurance Program||Yes||http://www.cdc.gov/labstandards/nsqap.html|
|UKNEQAS from Birmingham Quality||No||http://birminghamquality.org.uk/eqa-programmes/nsa/|
|Reference Institute for Bioanalytics (Germany)||No||http://www.dgkl-rfb.de/index_e.shtml|
|Asociacion Espanola De Cribado Neonatal (AECNE)||No||http://www.aecne.es|
|Preventative Medicine Foundation, Taiwan.|
EQA for Neonatal G6PD
|Plasma/Serum/Urine||College of American Pathologists (CAP)||No||http://www.cap.org|
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