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Updated: Jun 3, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

FISH in Preimplantation Diagnosis.

J C Harper1, J D Delhanty

  • 1Galton Laboratory, Department of Genetics and Biometry, University College, London and Institute of Obstetrics and Gynecology, London, UK.

Methods in Molecular Medicine
|March 5, 2011
PubMed
Summary

Karyotyping human embryonic chromosomes is difficult. Fluorescent in situ hybridization (FISH) offers a viable alternative for preimplantation genetic diagnosis (PGD) in specific genetic disorder cases.

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Cell Biology

Background:

  • Karyotyping human embryonic chromosomes is challenging due to difficulties in obtaining suitable metaphase spreads.
  • Karyotyping has a low success rate for single cells, making it unsuitable for preimplantation genetic diagnosis (PGD).

Purpose of the Study:

  • To evaluate alternative methods for analyzing human embryonic chromosomes.
  • To determine the utility of fluorescent in situ hybridization (FISH) for PGD.

Main Methods:

  • Analysis of human embryonic chromosomes.
  • Application of fluorescent in situ hybridization (FISH) for specific genetic analyses.

Main Results:

  • Karyotyping is limited for analyzing human embryonic chromosomes.
  • FISH is a viable option for sexing embryos for X-linked disorders and diagnosing chromosomal abnormalities like translocations and gonadal mosaicism.

Conclusions:

  • FISH is a valuable tool for preimplantation genetic diagnosis (PGD) when karyotyping is not feasible.
  • Laboratories offering PGD services should consider incorporating FISH into their diagnostic repertoire.

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