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Related Concept Videos

Karyotyping01:17

Karyotyping

Overview
Karyotyping01:17

Karyotyping

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DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Karyotype versus microarray testing for genetic abnormalities after stillbirth.

Uma M Reddy1, Grier P Page, George R Saade

  • 1Pregnancy and Perinatology Branch, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892-7510, USA.

The New England Journal of Medicine
|December 11, 2012
PubMed
Summary
This summary is machine-generated.

Microarray analysis offers superior genetic diagnosis in stillbirths compared to karyotype analysis, especially for nonviable tissue and congenital anomalies. This advanced genetic testing improves detection rates for copy-number variants.

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Area of Science:

  • Medical Genetics
  • Perinatal Medicine
  • Genomic Analysis

Background:

  • Genetic abnormalities are implicated in 6-13% of stillbirths, with potential for higher prevalence.
  • Microarray analysis detects copy-number variants (CNVs) and does not require live cells, unlike karyotype analysis.

Purpose of the Study:

  • To compare the diagnostic yield of microarray analysis versus karyotype analysis in stillbirths.
  • To assess the effectiveness of microarray analysis in detecting genetic abnormalities in nonviable fetal or placental tissue.

Main Methods:

  • A population-based study of 532 stillbirths was conducted.
  • Single-nucleotide polymorphism (SNP) array was used to detect copy-number variants (CNVs) in placental or fetal tissue.
  • Results from microarray analysis were compared with karyotype analyses.

Main Results:

  • Microarray analysis yielded results more often (87.4% vs. 70.5%) and detected more genetic abnormalities (8.3% vs. 5.8%) than karyotype analysis.
  • The diagnostic yield was significantly higher for microarray analysis in all stillbirths (41.9% increase), antepartum stillbirths (34.5% increase), and stillbirths with congenital anomalies (53.8% increase).
  • Microarray analysis was particularly effective in cases with congenital anomalies (29.9% vs. 19.4%).

Conclusions:

  • Microarray analysis is more effective than karyotype analysis for genetic diagnosis in stillbirths, especially when using nonviable tissue.
  • This method is particularly valuable for stillbirths with congenital anomalies or when karyotype analysis fails.
  • Microarray analysis enhances the detection of pathogenic copy-number variants and aneuploidies in stillbirth cases.