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Updated: Jun 28, 2026

FISH for Pre-implantation Genetic Diagnosis

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Published on: February 23, 2011

High-resolution array genomic hybridization in prenatal diagnosis.

¹Department of Medical Genetics, University of British Columbia, and Medical Genetics Research Unit, Child and Family Research Institute, Children's and Women's Hospital, Vancouver, British Columbia, Canada. frid@interchange.ubc.ca

Prenatal Diagnosis

|November 15, 2008

Summary

This summary is machine-generated.

Array genomic hybridization (AGH) detects smaller chromosomal changes than conventional methods, identifying more fetal genomic imbalances. However, uncertain results and unknown risks limit its current prenatal diagnostic use.

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Area of Science:

Genetics
Prenatal Diagnostics
Genomic Medicine

Background:

Conventional cytogenetic methods have limitations in detecting small chromosomal abnormalities.
Genomic imbalances are a significant cause of birth defects and developmental disorders.

Purpose of the Study:

To evaluate the utility of Array Genomic Hybridization (AGH) as a prenatal test for fetal genomic imbalance.
To compare the diagnostic yield of AGH with conventional cytogenetic analysis.

Main Methods:

Genome-wide AGH was employed to detect chromosomal gains or losses.
Comparison of AGH findings with conventional cytogenetic analysis in prenatal settings.

Main Results:

AGH can detect chromosomal changes 100 times smaller than conventional methods.
AGH identifies fetal genomic imbalances at least twice as frequently as conventional analysis.
AGH testing yields a higher proportion of results with uncertain clinical significance.

Conclusions:

AGH offers a more sensitive and frequent detection of fetal genomic imbalances prenatally.
The clinical significance of many AGH findings (CNVs) is not well-established, complicating patient counseling.
Current use of AGH for prenatal diagnosis should be restricted to high-risk pregnancies or clinical trials due to unknown risks and benefits.