Abstract
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.
Highlights
Array comparative genomic hybridization (CGH) is a powerful tool for detecting unbalanced chromosomal alterations
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
Array Comparative Genomic Hybridization (CGH) was developed as a screening strategy for detecting genomewide DNA copy number changes and many groups have studied the clinical applications of array CGH in both prenatal and postnatal settings [1,2,3,4,5]
Summary
Array Comparative Genomic Hybridization (CGH) was developed as a screening strategy for detecting genomewide DNA copy number changes and many groups have studied the clinical applications of array CGH in both prenatal and postnatal settings [1,2,3,4,5]. Chromosomal abnormalities are a major cause of congenital and developmental abnormalities in human genetic diseases, associated with dysmorphic features, mental retardation and developmental delays, as well as multiple congenital anomalies. The International Standard Cytogenomic Array (ISCA) Consortium published a consensus statement on the use of chromosomal microarray as a first tier diagnostic test in the evaluation of individuals with developmental delays and/or congenital anomalies [4]. We investigated 20,126 unselected newborns with array CGH and identified 87 abnormal cases
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
