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Related Experiment Video

Updated: Jul 16, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Preimplantation genetic diagnosis: present and future.

Elpida Fragouli¹

¹Department of Obstetrics and Gynecology, Yale University Medical School, 300 George Street, Suite 770, New Haven, CT 06511, USA. ef242@email.med.yale.edu

Journal of Assisted Reproduction and Genetics

|March 3, 2007

Summary

Preimplantation genetic diagnosis (PGD) accurately identifies embryos free of genetic disorders. Advances in PGD technology offer promising future applications for preventing inherited diseases.

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Area of Science:

Reproductive Medicine and Genetics
Embryology
Molecular Diagnostics

Background:

Preimplantation genetic diagnosis (PGD) has been available for over a decade.
PGD aims to detect embryos with genetic abnormalities, including gene mutations and chromosomal errors.
This review updates the current state and future potential of PGD.

Purpose of the Study:

To provide an overview of the current status of Preimplantation Genetic Diagnosis (PGD).
To discuss the future prospects and advancements in PGD technology.

Main Methods:

Review of studies utilizing various detection strategies for single gene defects.
Analysis of methods for identifying structural and numerical chromosome abnormalities in PGD.
Examination of polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) techniques.

Main Results:

Multiplex PCR enables amplification of multiple DNA fragments for single gene disorder PGD.
Current FISH protocols use up to 10 probes for assessing embryonic chromosome complements.
Emerging techniques are being developed for comprehensive assessment of all embryonic chromosomes.

Conclusions:

PGD has evolved significantly, achieving high accuracy and reliability.
Continuous technical advancements in preimplantation genetics underscore PGD's promising future.
PGD offers substantial potential for preventing the transmission of genetic diseases.