The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns

BackgroundArray comparative genomic hybridization (CGH) is a powerful tool for detecting unbalanced chromosomal alterations. To validate the usefulness of array CGH in newborn screening, we examined 20,126 unselected infants. In addition, the number of newborns analyzed with array CGH is the largest one ever reported.FindingsA total of 20,126 unselected newborns were investigated with array CGH and cytogenetic analyses. The analyses revealed 87 cases with chromosome abnormalities. Of these, 53 cases had significant chromosome aneuploidies, including trisomy 13, trisomy 21, 47,XXY or 45,X, and the other 34 cases presented partial chromosomal deletions or duplications.ConclusionsIn this study, we show that array CGH is an appropriate tool for the screening of chromosomal abnormalities in newborns, especially for the infants without distinct clinical features.

• Publication year

  2013

• Venue

  Molecular Cytogenetics

• Publication date

  2013-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1186/1755-8166-6-21PMID 23725218PMCID 3682880
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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