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DNA Microarrays

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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Updated: Mar 24, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Identifying Robertsonian Translocation Carriers by Microarray-Based DNA Analysis.

Stephanie Huang¹, Kara Juneau, Patrick E Bogard

¹Ariosa Diagnostics Inc., San Jose, Calif., USA.

Fetal Diagnosis and Therapy

|March 2, 2016

Summary

This summary is machine-generated.

A new noninvasive prenatal test improves identification of Robertsonian translocation carriers. This method accurately assesses fetal trisomy and maternal translocation status, providing crucial reproductive information.

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Area of Science:

Genetics
Reproductive Biology
Molecular Diagnostics

Background:

Robertsonian translocations are the most common chromosomal abnormalities.
These translocations can lead to significant reproductive challenges and fetal aneuploidies.
Current diagnostic methods may be invasive or lack comprehensive carrier identification.

Purpose of the Study:

To develop and validate a noninvasive prenatal testing (NIPT) improvement for identifying Robertsonian translocation carriers.
To enhance NIPT by incorporating specific assays for maternal Robertsonian translocation status.
To provide accurate risk assessment for fetal trisomy in the context of maternal Robertsonian translocations.

Main Methods:

Utilized Digital Analysis of Selected Regions (DANSR™) assays targeting acrocentric chromosome p arms.
Developed the Fetal-Fraction Optimized Risk of Trisomy Evaluation (FORTE™) algorithm to analyze cell-free DNA fractions.
Analyzed blood samples from 191 subjects, including carriers and non-carriers, using DNA microarrays.

Main Results:

The FORTE™ algorithm achieved 100% accuracy in classifying both fetal trisomy and maternal Robertsonian translocation status across all 191 samples.
Identified 16 samples with a high Robertsonian risk score (>99%) and 175 samples with a low risk score (<0.01%).
Demonstrated the efficacy of DANSR™ assays and the FORTE™ algorithm in a clinical setting.

Conclusions:

The developed noninvasive method effectively identifies Robertsonian translocation carriers.
This NIPT improvement offers valuable information for women regarding reproductive risks.
Accurate identification of maternal Robertsonian translocation status can guide prenatal counseling and management.