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Neonatal screening by DNA microarray: spots and chips

Nature Reviews Genetics volume 6, pages 147–151 (2005)Cite this article

Abstract

Newborn screening (NBS) is a public-health genetic screening programme aimed at early detection and treatment of pre-symptomatic children affected by specific disorders. It currently involves protein-based assays and PCR to confirm abnormal results. We propose that DNA microarray technology might be an improvement over protein assays in the first stage of NBS. This approach has important advantages, such as multiplex analysis, but also has disadvantages, which include a high initial cost and the analysis/storage of large data sets. Determining the optimal technology for NBS will require that technical, public health and ethical considerations are made for the collection and extent of analysis of paediatric genomic data, for privacy and for parental consent.

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Acknowledgements

We would like to thank Scott Grosse, Anne Marie Comeau and Harry Hannon for their valuable advice. The opinions stated here are entirely our own and do not necessarily reflect the positions of the March of Dimes or the NY State Department of Health. This work was in part supported by a National Human Genome Research Institute award to Thomas H. Murray.

Author information

Authors and Affiliations

  1. March of Dimes Birth Defect Foundation, 1275 Mamaroneck Avenue, White Plains, 10605, New York, USA

    Nancy S. Green

  2. Departments of Pediatrics and Cell Biology, Albert Einstein College of Medicine, New York, USA

    Nancy S. Green

  3. New York State Department of Health, Biggs Laboratory, Wadsworth Center, Empire State Plaza, Albany, 12201-0509, New York, USA

    Kenneth A. Pass

Authors
  1. Nancy S. Green
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  2. Kenneth A. Pass
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Corresponding author

Correspondence to Nancy S. Green.

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The authors declare no competing financial interests.

Related links

Related links

DATABASES

OMIM

cystic fibrosis

fragile X syndrome

phenylketonuria

FURTHER INFORMATION

Affymetrix

AmpliChip CYP450 Test products page

National Newborn Screening and Genetic Resource Center

Statement of the American college of medical genetics on universal newborn hearing screening

UK National Screening Committee criteria

Glossary

ADRENAL HYPERPLASIA

An impairment of a key enzyme in the production of cortisol and aldosterone by the adrenal gland. It leads to impaired salt and fluid balance, with possible dehydration and shock, as well as the masculinization of sex organs in female infants.

CONGENITAL HYPOTHYROIDISM

A condition in which insufficient thyroid hormone is produced. It can result from defects in the thyroid gland itself, or in other parts of the thyroid control system, including pituitary and hypothalamus.

DUARTE MUTATION

One of two specific mutations in the galactose-1-phosphate uridyl transferase (GALT) gene, which is involved in the metabolism of galactose. When homozygous or when paired with another mutation in the GALT gene, this mutation is usually associated with mild clinical symptoms. Other GALT mutations have severe clinical effects.

ISOELECTRIC FOCUSING

One of several electrophoretic procedures commonly used in newborn screening to identify different haemoglobins and their variants.

REFLEX MUTATION ANALYSIS

A second DNA test performed to clarify the impact of mutations found when results from the first DNA analysis reveal mutations known to modify the effects of other gene mutations.

TANDEM MASS SPECTROMETRY

An analytical system in which two linked mass spectrometers are used to measure small amounts of metabolites. The analytes are separated according to their mass and charge. By programing the instrument to only respond to certain masses, a high degree of specificity and sensitivity can be achieved.

VAS DEFERENS

The proximal portion of the male reproductive tract through which sperm travel from the epididymis to the urethra.

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Green, N., Pass, K. Neonatal screening by DNA microarray: spots and chips. Nat Rev Genet 6, 147–151 (2005). https://doi.org/10.1038/nrg1526

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