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Scriven P.N.,Kings College London | Scriven P.N.,Guys and St Thomas Center for | Ogilvie C.M.,Guys and St Thomas Center for | Khalaf Y.,Guys and St Thomas Center for | Khalaf Y.,Assisted Conception Unit
Human Reproduction | Year: 2012

The emergence of the array comparative genomic hybridization technique (aCGH) is considered an advance in preimplantation genetic testing. Analysis of the recently published pilot study using polar body aCGH indicates that the test accuracy compares favourably with the fluorescence in situ hybridization technique although a substantial number of euploid zygotes are still likely to be excluded incorrectly. A sound argument against selection in principle has recently been published, based on accumulating evidence that potentially all embryos can now be cryopreserved and transferred in subsequent frozen replacement cycles without impairing pregnancy rates. We suggest that vitrification and serial transfer without testing are likely to give patients the best chance for a successful pregnancy, and avoid the use of an expensive technology. © 2012 The Author. Source

Scriven P.N.,Guys and St Thomas Center for | Scriven P.N.,Kings College London | Flinter F.A.,Guys and St Thomas Center for | Flinter F.A.,Genetics Center | And 5 more authors.
European Journal of Human Genetics | Year: 2013

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. © 2013 Macmillan Publishers Limited. Source

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