Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts

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

doi:10.1016/j.fertnstert.2005.05.063

Cited by 257 publications

(147 citation statements)

References 39 publications

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“…Australian investigators were the first to suggest trophectoderm biopsy at blastocyst stage in place of day-3 biopsies [27], arguing that it offered distinct technical and clinical advantages by allowing switching from single (or 2-cell) to multiple cell analysis and, thus, reducing technical error opportunities. Trophectoderm biopsy could also be expected to improve false positive and false-negative results due to mosaicism.…”

Section: Search Strategymentioning

confidence: 99%

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Gleicher

Barad

2012

J Assist Reprod Genet

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Section: Search Strategymentioning

confidence: 99%

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

Gleicher

Barad

2012

J Assist Reprod Genet

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“…In this assisted reproductive procedure, the embryos produced are biopsied at either the 8-cell cleavage stage to remove a single blastomere [6,7] or at the blastocyst stage to remove 5-10 trophectoderm cells [8,9]. The embryonic DNA is amplified by whole genome amplification and then tested by chromosome microarray analysis to distinguish balanced from unbalanced embryos.…”

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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“…PGD may be performed by a variety of methods including biopsy on embryos at the eight-cell stage after a 3-day culture or blastocyst stage after 5-to 6-day culture, with a small sample removed for DNA testing for a specific gene mutation. 8 Using the information obtained from DNA testing for germline mutations in the parents, couples may consent to implanting embryos in accordance with physician recommendations or national policies.…”

Section: Introductionmentioning

confidence: 99%

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

Quinn

Pal

Murphy

et al. 2012

Genetics in Medicine

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Individuals carrying deleterious germline mutations placing them at increased risk for hereditary cancer syndromes (high-risk consumers) often have a great deal of fear and concern over transmitting mutations to their offspring, particularly conditions which are autosomal dominant. Preimplantation genetic diagnosis (PGD) is a procedure that can detect certain germline cancer predisposing mutations present in embryos. The objective of this review was to assess high-risk consumers' knowledge and perceptions of PGD for hereditary cancers. A systematic literature review was conducted through PubMed, Wiley Interscience, PsychInfo, and Cochrane Library databases to identify all articles assessing consumer knowledge and attitudes of PGD for hereditary cancer syndromes. We assessed heterogeneity and the robustness of findings through additional analyses according to study location, hereditary cancer type, and sample size. Thirteen articles remained eligible after the application of specific criteria. Results show a general low level of knowledge about PGD for hereditary cancers, moderate rates of acceptability among high-risk groups, and high levels of need for information about PGD. Individuals in specific risk groups such as those with a personal or family history of hereditary breast and ovarian cancer (HBOC) syndrome or familial adenomatous polyposis (FAP) may benefit from educational information from healthcare professionals about the use of PGD. 2012:14(2):191-200 Genet Med

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Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts

Cited by 257 publications

References 39 publications

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

A review of, and commentary on, the ongoing second clinical introduction of preimplantation genetic screening (PGS) to routine IVF practice

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

High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis

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