Objective aneuploidy detection for fetal and neonatal screening using comparative genomic hybridization (CGH)

Loh Chung Yu, Dan H. Moore, Gregg Magrane, Jack Cronin, Daniel Pinkel, Roger V. Lebo, Joe W. Gray

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Comparative genomic hybridization (CGH) allows entire genomes to be scanned for whole and segmental aneuploidy and thus may be an appropriate tool for the detection of clinically important abnormalities during fetal and neonatal screening. Criteria to distinguish between significant aberrations and experimental artifacts are essential for these applications. This report describes the use of a t-statistic to detect changes in CGH profiles that differ significantly from variations that occur in CGH profiles of normal samples. Eleven cell Lines derived from fetal or neonatal patients were analyzed in this study. Aneuploidies in these lines included trisomies for chromosomes 13, 16, 18, and 21 and monosomy for distal 5p and tetrasomy 18p. Aneuploidy was detected in all samples by using the t-statistic, although the extent of the aneuploid region was not correctly estimated in some cases. A detailed description of the t-statistic used for making these CGH comparisons is described in a companion paper (Moore et al., Cytometry 28:183-190, 1997), Cytometry 28: 191-197, 1997.

Original languageEnglish (US)
Pages (from-to)191-197
Number of pages7
JournalCytometry
Volume28
Issue number3
DOIs
StatePublished - Jul 1 1997

Keywords

  • Aneuploidy
  • Comparative genomic hybridization (CGH)
  • Fetal screening
  • Neonatal screening
  • T-statistic
  • Trisomy

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Biophysics
  • Hematology
  • Endocrinology
  • Cell Biology

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