Document Detail

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.
MedLine Citation:
PMID:  23386032     Owner:  NLM     Status:  MEDLINE    
Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21 of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were ~twice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an ~50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.
Paul N Scriven; Frances A Flinter; Yakoub Khalaf; Alison Lashwood; Caroline Mackie Ogilvie
Publication Detail:
Type:  Evaluation Studies; Journal Article     Date:  2013-02-06
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-09-19     Completed Date:  2014-05-01     Revised Date:  2014-10-12    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1035-41     Citation Subset:  IM    
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MeSH Terms
Abortion, Spontaneous / diagnosis,  genetics
Chromosome Segregation
Cohort Studies
Genetic Testing*
In Situ Hybridization, Fluorescence
Preimplantation Diagnosis*
Prospective Studies
Translocation, Genetic*
Grant Support
086034//Wellcome Trust

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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