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Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.
MedLine Citation:
PMID:  23386032     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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 21of 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.European Journal of Human Genetics advance online publication, 6 February 2013; doi:10.1038/ejhg.2013.9.
Authors:
Paul N Scriven; Frances A Flinter; Yakoub Khalaf; Alison Lashwood; Caroline Mackie Ogilvie
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-2-06
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  -     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-2-6     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
1] Guy's and St Thomas' Centre for PGD, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK [2] Division of Genetics and Molecular Medicine, King's College London, School of Medicine at Guy's, King's College and St Thomas Hospitals, London, UK.
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