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Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

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Updated: Feb 16, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Preimplantation genetic diagnosis/screening by comprehensive molecular testing.

Hiroki Kurahashi^1,2, Takema Kato¹, Jun Miyazaki^1,3

¹Division of Molecular Genetics, Institute for Comprehensive Medical Science Fujita Health University 1-98 Dengakugakubo, Kutsukake-cho 470-1192 Toyoake Aichi Japan.

Reproductive Medicine and Biology

|December 21, 2017

Summary

Comprehensive preimplantation genetic diagnosis (PGD) improves pregnancy success for recurrent pregnancy loss. Advances enhance accuracy, but challenges like mosaicism and polyploidy require further PGD technology development.

Keywords:

Microarray Next‐generation sequencing Preimplantation genetic diagnosis Recurrent pregnancy loss Translocation

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Last Updated: Feb 16, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

Reproductive Medicine
Genetics
Embryology

Background:

Preimplantation genetic diagnosis (PGD) is standard for recurrent pregnancy loss in chromosomal rearrangements.
Conventional fluorescence in situ hybridization (FISH) PGD shows suboptimal implantation and pregnancy rates.

Purpose of the Study:

To evaluate comprehensive molecular testing for PGD.
To address limitations of conventional PGD methods.

Main Methods:

Utilized array comparative genomic hybridization and next-generation sequencing for comprehensive PGD.
Incorporated recent advances in amplification procedures, microarray platforms, and analytical methods.

Main Results:

Comprehensive PGD methods have overcome previous amplification bias.
Data accuracy of comprehensive PGD now meets clinical laboratory testing standards.
Comprehensive PGD is now applied to recurrent fetal aneuploidy and implantation failure.

Conclusions:

Comprehensive PGD offers improved accuracy and application scope for reproductive challenges.
Challenges remain, including misdiagnosis from somatic mosaicism and polyploidy detection.
Further technological advancements in comprehensive PGD are necessary.