Literature DB >> 28947109

Preimplantation genetics and other reproductive options in Huntington disease.

Jan K Blancato1, Erin M Wolfe2, Preston C Sacks3.   

Abstract

Preimplantation genetic diagnosis (PGD) is a form of prenatal diagnosis applied to potential parents with known carrier status of a genetic disease, such as Huntington disease. It employs the use of polymerase chain reaction to amplify single cells from early embryos obtained with in vitro fertilization (IVF) techniques. PGD allows the couple the chance to have a pregnancy and livebirth child without Huntington disease, although there are some risks and expenses related to the procedures. Success of the procedure may be greater than standard IVF because the patients are not infertility patients, but are undergoing the procedure to avoid passing a highly deleterious disease gene to offspring. Recent advances in sequencing may allow for higher success rates as the chromosomally abnormal embryos will be identified more easily and the embryos with the highest chance of survival will be transferred.
Copyright © 2017 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Huntington disease; exclusion or nondisclosure; in vitro fertilization; preimplantation genetics; prenatal diagnosis; trophectoderm biopsy

Mesh:

Year:  2017        PMID: 28947109      PMCID: PMC5837037          DOI: 10.1016/B978-0-12-801893-4.00009-2

Source DB:  PubMed          Journal:  Handb Clin Neurol        ISSN: 0072-9752


  10 in total

Review 1.  Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's view.

Authors:  Karen Sermon
Journal:  Hum Reprod Update       Date:  2002 Jan-Feb       Impact factor: 15.610

Review 2.  Molecular diagnostics in preimplantation genetic diagnosis.

Authors:  Alan R Thornhill; Karen Snow
Journal:  J Mol Diagn       Date:  2002-02       Impact factor: 5.568

3.  Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.

Authors:  Maartje C Van Rij; Marjan De Rademaeker; Céline Moutou; Jos C F M Dreesen; Martine De Rycke; Inge Liebaers; Joep P M Geraedts; Christine E M De Die-Smulders; Stéphane Viville
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

4.  Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis.

Authors:  Wirawit Piyamongkol; Mercedes G Bermúdez; Joyce C Harper; Dagan Wells
Journal:  Mol Hum Reprod       Date:  2003-07       Impact factor: 4.025

Review 5.  Preimplantation genetic diagnosis.

Authors:  Karen Sermon; André Van Steirteghem; Inge Liebaers
Journal:  Lancet       Date:  2004-05-15       Impact factor: 79.321

Review 6.  Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?

Authors:  Kim Dao Ly; Ashok Agarwal; Zsolt Peter Nagy
Journal:  J Assist Reprod Genet       Date:  2011-07-09       Impact factor: 3.412

7.  Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders.

Authors:  J D Schulman; S H Black; A Handyside; W E Nance
Journal:  Clin Genet       Date:  1996-02       Impact factor: 4.438

8.  Predictive DNA-testing for Huntington's disease and reproductive decision making: a European collaborative study.

Authors:  Gerry Evers-Kiebooms; Kurt Nys; Peter Harper; Moniek Zoeteweij; Alexandra Dürr; Gioia Jacopini; Christos Yapijakis; Sheila Simpson
Journal:  Eur J Hum Genet       Date:  2002-03       Impact factor: 4.246

9.  New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications.

Authors:  Céline Moutou; Nathalie Gardes; Stéphane Viville
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

10.  Over a decade of experience with preimplantation genetic diagnosis: a multicenter report.

Authors:  Yury Verlinsky; Jacques Cohen; Santiago Munne; Luca Gianaroli; Joe Leigh Simpson; Anna Pia Ferraretti; Anver Kuliev
Journal:  Fertil Steril       Date:  2004-08       Impact factor: 7.329

  10 in total
  1 in total

1.  Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Authors:  Igor Stevanovski; Sanjog R Chintalaphani; Hasindu Gamaarachchi; James M Ferguson; Sandy S Pineda; Carolin K Scriba; Michel Tchan; Victor Fung; Karl Ng; Andrea Cortese; Henry Houlden; Carol Dobson-Stone; Lauren Fitzpatrick; Glenda Halliday; Gianina Ravenscroft; Mark R Davis; Nigel G Laing; Avi Fellner; Marina Kennerson; Kishore R Kumar; Ira W Deveson
Journal:  Sci Adv       Date:  2022-03-04       Impact factor: 14.136

  1 in total

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