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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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Single Nucleotide Polymorphisms-SNPs01:05

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Updated: Jan 18, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Importance of single nucleotide polymorphism microarray in prenatal diagnosis.

Zonghui Feng1, Yan Chen1, Fengmei Yi1

  • 1Prenatal Diagnosis Center, Maternity and Child Care Hospital of Huaihua, China.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University
|May 26, 2025
PubMed
Summary

Single nucleotide polymorphism (SNP) microarray analysis offers a superior method for prenatal diagnosis compared to karyotype analysis. This advanced technique significantly improves the detection rate of fetal genetic abnormalities, aiding in crucial clinical decisions.

Keywords:
SNP microarray analysiskaryotype analysisprenatal diagnosis

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Molecular Biology

Background:

  • Increasing incidence of congenital malformations linked to advanced maternal age and environmental factors.
  • Prenatal diagnosis is crucial for identifying fetal abnormalities.
  • Limitations of traditional karyotype analysis in detecting certain genetic variations.

Purpose of the Study:

  • To evaluate the clinical utility and diagnostic accuracy of single nucleotide polymorphism (SNP) microarray analysis in prenatal evaluations.
  • To compare SNP microarray analysis with conventional karyotype analysis for detecting fetal genetic disorders.

Main Methods:

  • A comparative study involving 425 pregnant women undergoing both SNP microarray and karyotype analysis.
  • Data collected between January 2020 and August 2021.
  • Statistical analysis including Fisher's exact test and Pearson's χ2 test.

Main Results:

  • SNP microarray analysis demonstrated a 100% success rate, significantly higher than karyotype analysis (92%).
  • SNP microarray analysis detected 10.4% more positive cases than karyotype analysis (6.6%).
  • SNP microarray identified 16 additional pathogenic copy number variations (CNVs), including duplications/deletions, chimerism, and loss of heterozygosity (LOH), beyond aneuploidies detected by karyotyping.

Conclusions:

  • SNP microarray analysis is a highly effective tool for prenatal genetic evaluation.
  • This technology enhances the identification of fetal genetic etiologies and improves prognostic assessment.
  • SNP microarray provides a more objective basis for clinical management decisions regarding pregnancy continuation.