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Microarray Beats Karyotyping for Stillbirth Analysis

by | Feb 21, 2015 | Clinical Diagnostics Insider, Diagnostic Testing and Emerging Technologies

Microarray technology yields greater results in analysis of genetic abnormalities in stillbirths compared to karyotyping, largely because of the ability to analyze nonviable tissue. The improved yield can detect greater numbers of aneuploids and is more sensitive to the presence of additional pathogenic variants, according to a study published in the Dec. 6 issue of the New England Journal of Medicine. The researchers from the Stillbirth Collaborative Research Network analyzed data from 532 stillbirth samples obtained from 59 different hospitals. A single-nucleotide polymorphism array (Affymetrix GenomeWide Human SNP Array 6.0) was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. The microarray analysis was conducted at a single university medical center, while the karyotype analysis was conducted in multiple university-affiliated laboratories. Microarray analysis yielded significantly more results than karyotyping (87.4 percent versus 70.5 percent) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants) than karyotyping (8.3 percent versus 5.8 percent). Microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9 percent in all stillbirths, 34.5 percent in antepartum stillbirths, and 53.8 percent in stillbirths with anomalies, compared with karyotyping. “Microarray analysis is more likely than karyotype analysis […]

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