Document Detail

Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring.
MedLine Citation:
PMID:  20338558     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To demonstrate the feasibility of establishing a successful pregnancy for a carrier of a balanced Y;autosome translocation. DESIGN: Four locus-specific fluorescence in situ hybridization (FISH) probes, informative for the translocation, were identified and tested on peripheral lymphocyte metaphase chromosomes and interphase preparations from the translocation carrier and his partner. SETTING: National health service genetics center, cytogenetics laboratory, and assisted conception unit. PATIENT(S): An infertile man, presenting with a balanced Y;13 translocation, and his reproductive partner. INTERVENTION(S): After ovarian stimulation, 15 eggs were collected, nine were injected, and three were suitable for blastomere biopsy on day 3; a single blastomere was taken from each embryo and tested with four locus-specific FISH probes. MAIN OUTCOME MEASURE(S): Birth of a healthy child. RESULT(S): One embryo showed a triploid signal pattern and one had fragmented nuclei; neither was suitable for transfer. One embryo showed a balanced male signal pattern and was transferred. A singleton pregnancy was established, resulting in the birth of a healthy male child. CONCLUSION(S): This first report of successful preimplantation genetic diagnosis treatment for infertile males with y:autosome translocations demonstrates that this treatment option can result in successful pregnancies and healthy offspring.
Caroline Mackie Ogilvie; Sally Watson; Peter Braude; Susan Pickering; Paul N Scriven
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-03-24
Journal Detail:
Title:  Fertility and sterility     Volume:  94     ISSN:  1556-5653     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-27     Completed Date:  2010-09-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1529.e11-4     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
Assisted Conception Unit, Clinical Genetics and Cytogenetics Department, Centre for Preimplantation Genetic Diagnosis, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
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MeSH Terms
Chromosomes, Human, Y*
False Positive Reactions
Infant, Newborn
Live Birth
Preimplantation Diagnosis* / standards
Sex Chromosome Aberrations*
Translocation, Genetic*

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