title: Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.
abstract: 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.
authors: 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.
authors: Paul N
authors: PN
authors: Scriven
authors: Frances A
authors: FA
authors: Flinter
authors: Yakoub
authors: Y
authors: Khalaf
authors: Alison
authors: A
authors: Lashwood
authors: Caroline
authors: C
authors: Mackie Ogilvie
mesh_terms: D000022:Abortion, Spontaneous / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D020090:Chromosome Segregation; D015331:Cohort Studies; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011446:Prospective Studies; D014178:Translocation, Genetic
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