The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns
Open Access
- 1 June 2013
- journal article
- Published by Springer Science and Business Media LLC in Molecular Cytogenetics
- Vol. 6 (1), 21
- https://doi.org/10.1186/1755-8166-6-21
Abstract
Background Array 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. Findings A 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. Conclusions In 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.Keywords
This publication has 22 references indexed in Scilit:
- Experience with microarray‐based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesPrenatal Diagnosis, 2012
- Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in EuropeEuropean Journal of Human Genetics, 2012
- Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomaliesMolecular Cytogenetics, 2012
- Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal casesMolecular Cytogenetics, 2011
- Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean Journal of Human Genetics, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalanceMolecular Cytogenetics, 2010
- A highly annotated whole-genome sequence of a Korean individualNature, 2009
- Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samplesJournal of Human Genetics, 2007
- A cytogenetic survey of 14,069 newborn infantsClinical Genetics, 1975