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Neonatal screening by DNA microarray: spots and chips


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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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.

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Correspondence to Nancy S. Green.

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The authors declare no competing financial interests.

Related links

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cystic fibrosis

fragile X syndrome




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



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.


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.


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.


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


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.


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.


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).

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