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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

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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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Diagnostic utility of microarray testing in pregnancy loss.

J A Rosenfeld1,2, M E Tucker3, L F Escobar3

  • 1Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|April 8, 2015
PubMed
Summary

Chromosomal microarray analysis (CMA) is a superior method for detecting genetic causes of pregnancy loss, identifying significant chromosomal abnormalities in 12.8% of cases, and offers improved results compared to traditional methods.

Keywords:
chromosomal microarrayfetal demisemiscarriageprenatal diagnosisstillbirth

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Area of Science:

  • Reproductive Medicine
  • Genetics
  • Prenatal Diagnostics

Background:

  • Pregnancy loss is a significant concern, often with an underlying genetic etiology.
  • Traditional cytogenetic analysis has limitations in detecting all chromosomal abnormalities in fetal demise specimens.

Purpose of the Study:

  • To assess the frequency of clinically significant chromosomal abnormalities in pregnancy losses using chromosomal microarray.
  • To compare the diagnostic performance of chromosomal microarray with traditional cytogenetic analysis for pregnancy loss.

Main Methods:

  • Clinical chromosomal microarray-based comparative genomic hybridization (aCGH) was performed on 515 fetal demise specimens.
  • Single nucleotide polymorphism (SNP) analysis was conducted on a subset of 107 specimens.
  • Specimen data included gestational age and karyotype information.

Main Results:

  • Clinically significant chromosomal abnormalities were identified in 12.8% of specimens with normal or unknown karyotypes.
  • Detection rates of abnormalities were higher in earlier gestational ages.
  • Chromosomal microarray demonstrated a lower failure rate (8.3%) compared to traditional cytogenetic analysis.

Conclusions:

  • Chromosomal microarray testing offers increased diagnostic utility in cases of pregnancy loss.
  • It successfully identifies abnormalities even with normal karyotypes and provides results when traditional methods fail.
  • Chromosomal microarray is a robust and preferable method for investigating genetic causes of pregnancy loss across all gestational ages.