Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses

Fischer, J.; Colls, P.; Escudero, T.; Munné, Santiago

doi:10.1016/j.fertnstert.2009.02.060

Cited by 138 publications

(107 citation statements)

References 32 publications

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“…However, once ET could take place, delivery rate is comparable to that seen in PGD for other indications in our center. 12,18 The results are also comparable to those of Ko et al 21 and the same trend is observed by Fischer et al 22 The present figures are also in line with those from the ESHRE PGD Consortium data collection IX and X 16,23 where for male carriers a delivery rate of 12-13% per OPU and 22% per ET was found and for female carriers 13-14% per OPU and 24%-26% per ET.…”

Section: Discussionsupporting

confidence: 92%

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

et al. 2011

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Carriers of reciprocal translocations (rcp) are known to be at risk for reproductive difficulties. Preimplantation genetic diagnosis (PGD) is one of the options these carriers have to try in order to fulfil their desire to have a child. In the present study, we retrospectively looked at the results of 11 years (1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007) of PGD for rcp in our center to improve the reproductive counseling of these carriers. During this period 312 cycles were performed for 69 male and 73 female carriers. The mean female age was 32.8 years, the mean male age 35.8 years. Most carriers were diagnosed with a translocation because of fertility problems or recurrent miscarriages, and most of them opted for PGD to avoid these problems. In 150 of the 312 cycles, embryo transfer (ET) was feasible and 40 women had a successful singleton or twin pregnancy. This gives a live birth delivery rate of 12.8% per started cycle and of 26.7% per cycle with ET. Owing to the large number of abnormal embryos, PGD cycles for rcp often lead to cancellation of ET, explaining the low success rate when expressed per cycle with oocyte pick-up. Once ET was feasible, the live birth delivery rate was similar to that of PGD in general at our center. PGD is therefore an established option for specific reciprocal translocation carriers.

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Section: Discussionsupporting

confidence: 92%

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

et al. 2011

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“…The embryonic DNA is amplified by whole genome amplification and then tested by chromosome microarray analysis to distinguish balanced from unbalanced embryos. Successful application of these diagnostic technologies on a large number of patient embryos has resulted in increased implantation, pregnancy and live birth rates, and importantly, lower miscarriage rates [10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations

Zhang

Liu

Wang

et al. 2016

J Assist Reprod Genet

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Purpose The purpose of this study was to apply nextgeneration sequencing (NGS) technology to identify chromosomally normal embryos for transfer in preimplantation genetic diagnosis (PGD) cycles for translocations. Methods A total of 21 translocation couples with a history of infertility and repeated miscarriage presented at our PGD clinic for 24-chromosome embryo testing using copy number variation sequencing (CNV-Seq).Results Testing of 98 embryo samples identified 68 aneuploid (69.4 %) and 30 (30.6 %) euploid embryos. Among the aneuploid embryos, the most common abnormalities were segmental translocation imbalances, followed by whole autosomal trisomies and monosomies, segmental imbalances of nontranslocation chromosomes, and mosaicism. In all unbalanced embryos resulting from reciprocal translocations, CNV-Seq precisely identified both segmental imbalances, extending from the predicted breakpoints to the chromosome termini. From the 21 PGD cycles, eight patients had all abnormal embryos and 13 patients had at least one normal/balanced and euploid embryo available for transfer. In nine intrauterine transfer cycles, seven healthy babies have been born. In four of the seven children tested at 18 weeks gestation, the karyotypes matched with the original PGD results. Conclusion In clinical PGD translocation cycles, CNV-Seq displayed the hallmarks of a comprehensive diagnostic technology for high-resolution 24-chromosome testing of embryos, capable of identifying true euploid embryos for transfer.

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“…Sugiura-Ogasawara et al (2004) reported that PGD for RPL couples is not necessary. However, Fischer et al (2010) proposed that individuals with chromosome translocations who have experienced RPL would benefit from PGD by realizing a significant reduction in loss rate and improvement in the rate of successful pregnancies.…”

Section: Introductionmentioning

confidence: 99%

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

Dong¹,

Li²,

Wang³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The subsequent reproductive outcomes in couples with a history of recurrent pregnancy loss (RPL) associated with chromosome abnormalities or polymorphisms are generally not reported in China. Many RPL carrier couples have decided not to have children. The present study recorded the subsequent delivery, miscarriage, and unpregnancy outcomes of 113 RPL carrier couples and 226 non-carrier couples, and compared differences in reproductive outcomes between couples with different types of chromosome abnormalities or polymorphisms and chromosome normal couples. Our results showed that couples with RPL associated with parental chromosome abnormalities or polymorphisms did not have significantly lower live birth rates than non-carrier couples in China. These results suggest the current guidance given to Chinese RPL couples.

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Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses

Cited by 138 publications

References 32 publications

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles

Clinical application of next-generation sequencing in preimplantation genetic diagnosis cycles for Robertsonian and reciprocal translocations

Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms

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