| Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. | |
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MedLine Citation:
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PMID: 23386032 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Paul N Scriven; Frances A Flinter; Yakoub Khalaf; Alison Lashwood; Caroline Mackie Ogilvie |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-2-06 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2013 Feb |
Date Detail:
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Created Date: 2013-2-6 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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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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