2015 Group Project 6: Difference between revisions

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==Preimplantation Genetic Diagnosis==  
==Preimplantation Genetic Diagnosis==  


Preimplantation genetic diagnosis (PGD) is used to test the genetic makeup of embryos to prevent the transmission of inherited diseases with detrimental effects such as cystic fibrosis, spinal muscular atrophy and beta – thalassaemia <ref name= "Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press.">Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press</ref> <ref name="PMID17823145"><pubmed>17823145</pubmed></ref>. It was first used in the United Kingdom in the 1980s of arenoleucodystrophy and primarily focusing on sex- linked disorders <ref name="PMID17823145"/><ref name="PMID23150080"><pubmed>23150080</pubmed></ref>. PGD is now capable of detecting single cell defects (molecular) and chromosomal disorders resulting from the inversion, translocation or deletion of chromosomes (cytogenic) <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>,<ref name="PMID11325751"><pubmed>11325751</pubmed></ref>. PGD can be applied to different the embryo at different stages. That is on polar bodies, blastomeres or blastocyst <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>.
Preimplantation genetic diagnosis (PGD) is used to test the genetic makeup of embryos to prevent the transmission of inherited diseases with detrimental effects such as cystic fibrosis, spinal muscular atrophy and beta – thalassaemia <ref name= "Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press.">Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press</ref> <ref name="PMID17823145"><pubmed>17823145</pubmed></ref>. It was first used in the United Kingdom in the 1980s of arenoleucodystrophy and primarily focusing on sex- linked disorders <ref name="PMID17823145"/><ref name="PMID23150080"><pubmed>23150080</pubmed></ref>. PGD is now capable of detecting single cell defects (molecular) and chromosomal disorders resulting from the inversion, translocation or deletion of chromosomes (cytogenic) <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>,<ref name="PMID11325751"><pubmed>11325751</pubmed></ref>. PGD can be applied to the embryo at different stages. That is on polar bodies, blastomeres or blastocyst <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>.


Depending on the type of genetic disorder, PGD utilises different methods of genetic testing. These include Fluorescence in situ hybridisation (FISH) which is used for sex – linked disorders and detects chromosomal rearrangements <ref name="PMID11325751"/><ref name="PMID17876073"><pubmed>17876073</pubmed></ref> and Embryo halotyping which allows the identification of chromosomes causing the inherited disorder through knowledge of the pattern of closely linked markers <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>. Polymerase chain reaction (PCR) is also widely used to detect molecular abnormalities <ref name="PMID11325751"/>.
Depending on the type of genetic disorder, PGD utilises different methods of genetic testing. These include Fluorescence in situ hybridisation (FISH) which is used for sex – linked disorders and detects chromosomal rearrangements <ref name="PMID11325751"/><ref name="PMID17876073"><pubmed>17876073</pubmed></ref> and Embryo halotyping which allows the identification of chromosomes causing the inherited disorder through knowledge of the pattern of closely linked markers <ref name="Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press."/>. Polymerase chain reaction (PCR) is also widely used to detect molecular abnormalities <ref name="PMID11325751"/>.

Revision as of 14:16, 17 September 2015

2015 Student Projects 
2015 Projects: Three Person Embryos | Ovarian Hyper-stimulation Syndrome | Polycystic Ovarian Syndrome | Male Infertility | Oncofertility | Preimplantation Genetic Diagnosis | Students
2015 Group Project Topic - Assisted Reproductive Technology
This page is an undergraduate science embryology student and may contain inaccuracies in either description or acknowledgements.


Prenatal Genetic Diagnosis for ART

Introduction

History

Indications

Inheritance patterns

Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) is used to test the genetic makeup of embryos to prevent the transmission of inherited diseases with detrimental effects such as cystic fibrosis, spinal muscular atrophy and beta – thalassaemia [1] [2]. It was first used in the United Kingdom in the 1980s of arenoleucodystrophy and primarily focusing on sex- linked disorders [2][3]. PGD is now capable of detecting single cell defects (molecular) and chromosomal disorders resulting from the inversion, translocation or deletion of chromosomes (cytogenic) [1],[4]. PGD can be applied to the embryo at different stages. That is on polar bodies, blastomeres or blastocyst [1].

Depending on the type of genetic disorder, PGD utilises different methods of genetic testing. These include Fluorescence in situ hybridisation (FISH) which is used for sex – linked disorders and detects chromosomal rearrangements [4][5] and Embryo halotyping which allows the identification of chromosomes causing the inherited disorder through knowledge of the pattern of closely linked markers [1]. Polymerase chain reaction (PCR) is also widely used to detect molecular abnormalities [4].

Preimplantation Genetic Screening

Cell Extraction Methods

PMID 24305177

Polar Body Analysis

PMID 22723007 PMID 26096028 PMID 26024488 PMID 25639967 PMID 25106935 PMID 23993663 PMID 20966459 PMID 26168107 PMID 25654908 PMID 25064409

Blastomere biopsy

PMID 23993663 PMID 20966459 PMID 22723007 PMID 26168107 PMID 25654908 PMID 25816038 PMID 25516085 PMID 25624194 PMID 24581980 PMID 24301057

Trophectoderm biopsy

PMID 23993663 PMID 20966459 PMID 22723007 PMID 26168107 PMID 25654908

Genetic Techniques

PMID 25154779 (might be useful?)

Fluorescent In Situ Hybridisation (FISH)

PCR

Diagnosis

Utilization of Diseased Cell Lines

Laws & Legal status

Future/Current Research

Ethics

References

  1. 1.0 1.1 1.2 1.3 Coward, K. & Wells, D. (2013). Textbook of Clinical Embryology New York: Cambridge University Press
  2. 2.0 2.1 <pubmed>17823145</pubmed>
  3. <pubmed>23150080</pubmed>
  4. 4.0 4.1 4.2 <pubmed>11325751</pubmed>
  5. <pubmed>17876073</pubmed>


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