Preimplantation genetic diagnosis for haematologic conditions

Current Opinion in Pediatrics
Tarek El-ToukhySimon Meller

Abstract

This review will inform the clinician about the application, success rates and limitations of preimplantation genetic diagnosis (PGD) for haematologic disease to enable clinicians to offer couples with reproductive risk a realistic view of possible treatments. The molecular techniques used to diagnose disease mutations are described, including the newest technologies using whole genome amplification (WGA) and preimplantation genetic haplotyping (PGH) of embryos. The history and ethics involved in performing PGD together with human leukocyte antigen (HLA) testing (PGD-H) to create matched siblings suitable for haematopoietic stem cell transplant (HSCT) are discussed. The greatest diagnostic hurdle in PGD is the paucity of molecular material in the single embryonic cell. WGA allows amplification of the entire genome, which greatly simplifies mutation analysis and increases the possibilities of multiple simultaneous genetic diagnoses. PGH can be applied to the amplified material, and may enable the application of PGD to the less common haematological mutations, and the diagnosis of nonaffected male progeny in cases of X-linked haematologic diseases. PGD to exclude embryos carrying serious haematologic disease is a viable alternati...Continue Reading

References

Sep 24, 1992·The New England Journal of Medicine·A H HandysideM R Hughes
Jun 1, 1991·American Journal of Medical Genetics·T M KoT Y Lee
May 30, 1998·Journal of Assisted Reproduction and Genetics·A KulievY Verlinsky
Mar 22, 2001·Prenatal Diagnosis·M De RyckeI Liebaers
Jun 28, 2001·JAMA : the Journal of the American Medical Association·Y VerlinskyA Kuliev
Apr 18, 2002·Proceedings of the National Academy of Sciences of the United States of America·Frank B DeanRoger S Lasken
Jan 14, 2003·Fertility and Sterility·Susan PickeringUNKNOWN Preimplantation Genetic Diagnosis Study Group
Nov 25, 2003·The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics·Susan M WolfJohn E Wagner
May 6, 2004·JAMA : the Journal of the American Medical Association·Yury VerlinskyAnver Kuliev
Jul 15, 2004·Kennedy Institute of Ethics Journal·Jeffrey P Kahn, Anna C Mastroianni
Nov 4, 2004·BJOG : an International Journal of Obstetrics and Gynaecology·Jan GracePeter Braude
Sep 3, 2005·Human Mutation·George P PatrinosManoussos N Papadakis
Sep 24, 2005·Reproductive Biomedicine Online·A KulievY Verlinsky
Dec 13, 2005·Annals of the New York Academy of Sciences·Giorgio La NasaFranco Locatelli
Dec 13, 2005·Annals of the New York Academy of Sciences·Anver KulievYury Verlinsky
Dec 13, 2005·Annals of the New York Academy of Sciences·Naveen QureshiElliott P Vichinsky
Feb 24, 2006·Thrombosis and Haemostasis·Katerina MichaelidesStuart A Lavery
Apr 14, 2006·Medical Law Review·Sally Sheldon, Stephen Wilkinson
Sep 21, 2006·Prenatal Diagnosis·Jie DengGuang-Lun Zhuang
Dec 2, 2006·Thrombosis and Haemostasis·Jorge F Sánchez-GarcíaFrancisco Vidal
Dec 26, 2006·Expert Review of Molecular Diagnostics·Pamela Renwick, Caroline Mackie Ogilvie
Feb 15, 2007·Reproductive Biomedicine Online·Yury VerlinskyAnver Kuliev
Apr 25, 2007·Pediatric Hematology and Oncology·Hannah Tamary, Blanche P Alter
Nov 6, 2008·Reproductive Biomedicine Online·Shee-Uan ChenYu-Shih Yang

❮ Previous
Next ❯

Citations

Feb 4, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Paula D James, Anne C Goodeve
May 28, 2013·BioMed Research International·Raquel M FernándezGuillermo Antiñolo
Jan 5, 2011·Journal of Zhejiang University. Science. B·Ying-ming ZhengFan Jin
Jul 6, 2020·British Journal of Haematology·Saaliha ValiEugene Oteng-Ntim

❮ Previous
Next ❯

Related Concepts

Related Feeds

Allogenic & Autologous Therapies

Allogenic therapies are generated in large batches from unrelated donor tissues such as bone marrow. In contrast, autologous therapies are manufactures as a single lot from the patient being treated. Here is the latest research on allogenic and autologous therapies.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.