Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at sydney IVF

Boer, Kylie A. de; Catt, James; Jansen, Robert P.S.; Leigh, Don; McArthur, Steven J.

doi:10.1016/j.fertnstert.2003.11.064

Cited by 130 publications

(46 citation statements)

References 7 publications

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“…The median number of eggs collected was 13 (range 4-39) and the median number of embryos biopsied was 6 (range [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. In our study the number of oocytes was not an important predictor for a live-birth pregnancy (OR 1.0, 95% CI 0.92-1.10, P ¼ 0.960).…”

Section: Pgd Cycles and Clinical Outcomementioning

confidence: 58%

“…5,6 Some approaches allow discrimination between normal and heterozygote chromosome complements, as well as detecting abnormal copy number for the translocation segments. [7][8][9] However, the most commonly used methodology of locus-specific probes applied to interphase nuclei from cleavage stage blastomeres, [10][11][12][13][14][15][16] or cells sampled from the trophectoderm, 17 will not differentiate between normal and heterozygote chromosome complements unless probes are designed to flank closely or span the breakpoints. 18 Guy's and St Thomas' Centre for PGD has undertaken 319 biopsy cycles with genetic testing for 171 couples with reciprocal translocations, which has resulted in the delivery of 85 live-born offspring.…”

Section: Introductionmentioning

confidence: 99%

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Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

et al. 2013

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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 Btwice 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 B50% 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.

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Section: Pgd Cycles and Clinical Outcomementioning

confidence: 58%

Section: Introductionmentioning

confidence: 99%

Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study

et al. 2013

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“…In conclusion, the clinical outcome of these cycles provides a further demonstration that PGD is an effective clinical tool for assisted reproduction and genetic screening, confirming the experience of other groups (Vandervorst et al, 2000;Harper et al, 2002;Pickering et al, 2003;Traeger-Synodinos et al, 2003;Verlinsky et al, 2004;de Boer et al, 2004). From the patients' perspective, PGD is an important alternative to standard prenatal diagnosis.…”

Section: Discussionsupporting

confidence: 70%

Preimplantation Genetic Diagnosis for Single Gene Disorders

Fiorentine¹

Practical Preimplantation Genetic Diagnosis

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BACKGROUND:We report on our experience with preimplantation genetic diagnosis (PGD) for single gene disorders (SGDs), from 1999 to 2004, describing strategies and overall clinical outcome of 250 cycles in 174 couples for 23 different genetic conditions. METHODS: PGD cycles included 15 for autosomal dominant, 148 for autosomal recessive and 19 for X-linked SGDs. In addition, 68 cycles of PGD for SGDs were performed in combination with HLA matching. The strategy in each case used an initial multiplex PCR, followed by minisequencing to identify the mutation(s) combined with multiplex PCR for closely linked informative markers to increase accuracy. Linkage analysis, using intragenic and/or extragenic polymorphic microsatellite markers, was performed in cases where the disease-causing mutation(s) was unknown or undetectable. RESULTS: In 250 PGD cycles, a total of 1961 cleavage stage embryos were biopsied. PCR was successful in 3409 out of 3149 (92.4%) biopsied blastomeres and a diagnosis was possible in 1849 (94.3%) embryos. Four hundred and twenty-seven embryos were transferred in 211 cycles, resulting in 71 pregnancies (33.6% per embryo transfer), including 15 biochemical pregnancies, six spontaneous miscarriages, two ectopic pregnancies, which were terminated, and nine pregnancies which are still ongoing. The remaining pregnancies were confirmed to be unaffected and went to term without complications, resulting in the birth of 35 healthy babies. CONCLUSIONS: Minisequencing for mutation detection combined with multiplex fluorescence PCR for linkage analysis is an efficient, accurate and widely applicable strategy for PGD of SGDs. Our experience provides a further demonstration that PGD is an effective clinical tool and a useful option for many couples with a high risk of transmitting a genetic disease.

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“…It yields more biopsied cells (10-30 cells) and avoids removing an embryonic cell. Frozen trophectoderm-biopsied embryos are thawed during the next cycle for embryo transfer (de Boer et al 2004 ;Kokkali et al 2005 ;McArthur et al 2005 ;Kuwayama 2007 ;Escribá et al 2008 ;Schlenker et al 2009 ) .…”

Section: Obtaining Cells For Preimplantation Genetic Diagnosismentioning

confidence: 99%