Re-analysis of 166 embryos not transferred after PGS with advanced reproductive maternal age as indication

Hanson, Charles; Hardarson, Thorir; Lundin, Kersti; Bergh, Christina; Hillensjö, T.; Stevic, Justina; Westin, Cecília Buzatto; Selleskog, Ulrika; Rogberg, Lena; Wikland, Matts

doi:10.1093/humrep/dep264

Cited by 13 publications

(9 citation statements)

References 22 publications

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“…The reason why the preferential transfer of embryos diagnosed euploid using PGS has not always been associated with improved IVF outcome may be related to diagnostic errors due to chromosomal mosaicism (Wells and Delhanty, 2000;Voullaire et al, 2002;Munné, 2006;Hanson et al, 2009;Vanneste et al, 2009a, b). Although most mosaic embryos turn out to have abnormalities in all of their cells, a minority contain a mixture of aneuploid and normal cells and could be incorrectly diagnosed following single blastomere analysis.…”

Section: Introductionmentioning

confidence: 99%

Transcriptomic profiling of human oocytes: association of meiotic aneuploidy and altered oocyte gene expression

Fragouli

Bianchi²,

Patrizio

et al. 2010

Molecular Human Reproduction

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The ability to identify oocytes with the greatest potential for producing a viable embryo would be of great benefit to assisted reproductive treatments. One of the most important defects affecting oocytes is aneuploidy. Aneuploidy is also closely related with advancing maternal age, a phenomenon not well understood. This study combined a comprehensive cytogenetic investigation of 21 oocytes with a detailed assessment of their transcriptome. The first polar body was removed from all oocytes and aneuploidy assessed using comparative genomic hybridization. Preliminary mRNA transcript data were produced with the use of microarrays for seven of the corresponding oocytes (three normal and four aneuploid). The results obtained for normal and aneuploid oocytes were compared and 327 genes were found to display statistically (P < 0.05) significant differences in transcript levels. Ninety-six of these genes were further assessed in seven aneuploid and seven normal oocytes using real-time PCR. The results indicated that aneuploidy is associated with altered transcript levels affecting a subset of genes. A link between mRNA transcript numbers and age was also observed. The possibility that different transcript levels in the oocyte have an impact on cellular pathways remains to be proven. However, it may be significant that some of the highlighted genes produce proteins involved in spindle assembly and chromosome alignment. Additionally, several genes with altered amounts of transcript produce cell surface or excretory molecules, and could potentially serve as targets for non-invasive oocyte aneuploidy assessment.

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Section: Introductionmentioning

confidence: 99%

Transcriptomic profiling of human oocytes: association of meiotic aneuploidy and altered oocyte gene expression

Fragouli

Bianchi²,

Patrizio

et al. 2010

Molecular Human Reproduction

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“…In general, false positive rates have been estimated between 0 and 4.9% [74]. False negatives range from 1 to 4.9% [75]. …”

Section: Established Fertility Preservation Methods For Femalesmentioning

confidence: 99%

New promising strategies in oncofertility

Hudson

Stanley

Nahata

et al. 2017

Expert Review of Quality of Life in Cancer Care

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Introduction Approximately 70,000 adolescent and young adults (AYA) are diagnosed with cancer each year. While advancements in treatment have led to improved prognosis and survival for patients, these same treatments can adversely affect AYA reproductive capacity. Localized treatments such as surgery and radiation therapy may affect fertility by removing or damaging reproductive organs, and systemic therapies such as chemotherapy can be toxic to gonads, (ovaries and testicles), thus affecting fertility and/or endocrine function. This can be traumatic for AYA with cancer as survivors often express desire to have genetic children and report feelings of regret or depression as a result of infertility caused by cancer treatments. Areas Covered Emerging technologies in the field of assisted reproductive technology offer new promise for preserving the reproductive capacity of AYA cancer patients prior to treatment as well as providing alternatives for survivors. The following review revisits contemporary approaches to fertility preservation as well newly developing technologies. Expert Commentary There are several advances in ART that hold promise for patients and survivors. However there are challenges that inhibit uptake including poor communication between providers and patients about risks and fertility preservation options; high costs; and lack of insurance coverage for fertility preservation services.

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“…This method allows a greater number cells to be analyzed with studies showing reduction of amplification failure and allele dropout. 2,[12][13][14] Chang et al examined methods for blastocyst biopsy with vitrification and showed a 94% survival rate of vitrified blastocysts with a 50% implantation rate. 12 Cryopreservation of biopsied blastocysts is a useful technique which allows for more diagnostic time, transfer into a more physiologic endometrium, and avoidance of ovarian hyperstimulation in at-risk patients.…”

Section: Methodsmentioning

confidence: 99%

Preimplantation Diagnosis for Single Gene Disorders

Berger

Baker

2014

Semin Reprod Med

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Preimplantation genetic diagnosis (PGD) allows patients who are carriers or who are affected by genetic diseases to select unaffected embryos for transfer before becoming pregnant. The practice of PGD is evolving with rapid advances in technology and biopsy methods. Testing for a specific gene mutation can be performed in combination with 24-chromosome aneuploidy screening. Several unique applications of PGD are reviewed, including exclusion diagnosis for couples from Huntington disease families, testing for fragile X premutations, and human leukocyte antigen matching for stem cell donor siblings. Although PGD for single gene mutations allows patients to gain information about their embryos and perhaps avoid a difficult decision about whether or not to terminate an ongoing pregnancy, this technique also provides for much ethical debate encompassing the well-being of the prospective couple, embryo, child, and people in the community affected by the diseases being screened.

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Re-analysis of 166 embryos not transferred after PGS with advanced reproductive maternal age as indication

Abstract: PGS seems to be a good method for selecting against chromosomally abnormal embryos but not for determining an embryo's exact chromosomal constitution.

Cited by 13 publications

References 22 publications

Transcriptomic profiling of human oocytes: association of meiotic aneuploidy and altered oocyte gene expression

Transcriptomic profiling of human oocytes: association of meiotic aneuploidy and altered oocyte gene expression

New promising strategies in oncofertility

Preimplantation Diagnosis for Single Gene Disorders

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