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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Best Practice & Rese...arrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Best Practice & Research Clinical Obstetrics & Gynaecology
Article . 2002 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
Clinical Obstetrics & Gynecology
Article . 2002 . Peer-reviewed
Data sources: Crossref
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Pre-implantation genetic diagnosis

Authors: Joyce C, Harper; The-Hung, Bui;

Pre-implantation genetic diagnosis

Abstract

Pre-implantation genetic diagnosis is an alternative to prenatal diagnosis for a select group of patients. Patients have to go through in vitro fertilization in order to produce embryos in vitro, from which one or two cells are removed at the 8-cell stage. A fluorescence in situ hybridization or polymerase chain reaction is carried out for the genetic diagnosis. Fluorescence in situ hybridization is used for the analysis of chromosomes for sexing for X-linked disease, chromosome abnormalities and aneuploidy screening. Aneuploidy screening is performed for infertile patients going through in vitro fertilization to try to improve their pregnancy rate. A polymerase chain reaction is used for the diagnosis of single-gene disorders. Since the risk of contamination and allele dropout is high with a polymerase chain reaction, linked or unlinked markers are usually used in a fluorescent multiplex polymerase chain reaction. New techniques, for example comparative genomic hybridization, allow the analysis of all of the chromosomes from one cell at one time. The ethical implications of pre-implantation genetic diagnosis are immense as the technique has already been used for social sexing and human leukocyte antigen matching.

Related Organizations
Keywords

Chromosome Aberrations, Genetic Diseases, Inborn, Fertilization in Vitro, Polymerase Chain Reaction, Pregnancy, Humans, Female, Genetic Testing, In Situ Hybridization, Fluorescence, Preimplantation Diagnosis

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    selected citations
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    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    21
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 10%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
21
Average
Top 10%
Top 10%
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