Related Experiment Video
Updated: Jul 9, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic diagnosis.
Karen Sermon1, André Van Steirteghem, Inge Liebaers
1Centre for Medical Genetics, University Hospital and Medical School, Dutch-speaking Brussels Free University, Brussels, Belgium. Karen.sermon@az.vub.ac.be
Lancet (London, England)
|May 18, 2004
Summary
Preimplantation genetic diagnosis (PGD) prevents genetic diseases by analyzing embryos before implantation. This technology has evolved significantly since the 1990s, offering new hope for at-risk families.
Area of Science:
- Reproductive Medicine
- Medical Genetics
- Embryology
Background:
- Preimplantation genetic diagnosis (PGD) emerged in the early 1990s.
- Initially, PGD focused on sex selection for sex-linked genetic disorders to avoid pregnancy termination.
- Couples at high risk for offspring with genetic diseases sought alternatives to prenatal diagnosis.
Purpose of the Study:
- To provide an overview of PGD indications and techniques.
- To discuss the results and pregnancy outcomes associated with PGD.
- To review emerging technologies in PGD.
Main Methods:
- Single-cell genetic analysis of oocyte polar bodies or embryo blastomeres.
- Fluorescence in-situ hybridisation (FISH) for chromosomal analysis.
- Polymerase chain reaction (PCR) for monogenic disease gene analysis.
- Improved in-vitro embryo culture using sequential media.
Main Results:
- PGD techniques have advanced significantly, enabling single-cell genetic analysis.
- FISH and PCR are established methods for chromosomal and gene analysis, respectively.
- Improvements in embryo culture have enhanced PGD success rates.
Conclusions:
- PGD offers a valuable alternative to prenatal diagnosis for high-risk couples.
- Continuous advancements in genetic analysis and embryo culture are expanding PGD's capabilities.
- PGD contributes to preventing the transmission of genetic diseases and improving pregnancy outcomes.
Keywords:
Genetics and Reproduction
Related Concept Videos
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
02:46Genetic 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 result in visible changes...
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 result in visible changes...