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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: Apr 21, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Chromosomal microarray in fetuses with increased nuchal translucency.

I C B Lund¹, R Christensen, O B Petersen

¹Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology

|November 14, 2014

Summary

This summary is machine-generated.

High-resolution chromosomal microarray (CMA) is valuable for detecting genomic imbalances in fetuses with increased nuchal translucency (NT) and normal quantitative fluorescent polymerase chain reaction (QF-PCR) screening. CMA identified pathogenic copy number variants in 12.8% of cases with normal QF-PCR results.

Keywords:

array comparative genomic hybridization chromosomal microarray genomic imbalance nuchal translucency prenatal diagnosis

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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

Area of Science:

Prenatal diagnostics
Genetics
Medical technology

Background:

First-trimester combined screening is widely used.
Increased nuchal translucency (NT) is a marker for fetal aneuploidy.
Quantitative fluorescent polymerase chain reaction (QF-PCR) is a common screening tool.

Purpose of the Study:

To evaluate the clinical utility of chromosomal microarray (CMA) for prenatal diagnosis.
To examine genomic imbalances in uncultured chorionic villus samples.
To assess fetuses with increased NT (≥3.5 mm) and normal QF-PCR results.

Main Methods:

Prospective study of 132 pregnancies with NT ≥3.5 mm.
DNA extraction from uncultured chorionic villus samples.
Analysis using QF-PCR (n=132) and CMA (n=94).

Main Results:

QF-PCR detected aneuploidies in 38 cases.
CMA identified pathogenic copy number variants (CNVs) in 12.8% of cases with normal QF-PCR.
An additional 3.2% of cases revealed CNVs of uncertain clinical significance.

Conclusions:

Chromosomal microarray (CMA) is a valuable diagnostic tool.
CMA enhances detection of genomic imbalances in high-risk pregnancies.
Recommended for fetuses with isolated NT ≥3.5 mm and normal QF-PCR.