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Trophectoderm biopsy

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https://www.readbyqxmd.com/read/27853913/differences-in-pregnancy-outcomes-in-donor-egg-frozen-embryo-transfer-fet-cycles-following-preimplantation-genetic-screening-pgs-a-single-center-retrospective-study
#1
Alison Coates, Brandon J Bankowski, Allen Kung, Darren K Griffin, Santiago Munne
PURPOSE: This study aims to test the hypothesis, in a single-center retrospective analysis, that live birth rates are significantly different when utilizing preimplantation genetic screening (PGS) compared to not utilizing PGS in frozen-thawed embryo transfers in our patients that use eggs from young, anonymous donors. The question therefore arises of whether PGS is an appropriate intervention for donor egg cycles. METHODS: Live birth rates per cycle and live birth rates per embryo transferred after 398 frozen embryo transfer (FET) cycles were examined from patients who elected to have PGS compared to those who did not...
November 16, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27822654/number-of-blastocysts-biopsied-as-a-predictive-indicator-to-obtain-at-least-one-normal-balanced-embryo-following-preimplantation-genetic-diagnosis-with-single-nucleotide-polymorphism-microarray-in-translocation-cases
#2
Yi-Zi Wang, Chen-Hui Ding, Jing Wang, Yan-Hong Zeng, Wen Zhou, Rong Li, Can-Quan Zhou, Ming-Fen Deng, Yan-Wen Xu
PURPOSE: The aim of this study is to investigate the minimum number of blastocysts for biopsy to increase the likelihood of obtaining at least one normal/balanced embryo in preimplantation genetic diagnosis (PGD) for translocation carriers. METHODS: This blinded retrospective study included 55 PGD cycles for Robertsonian translocation (RT) and 181 cycles for reciprocal translocation (rcp) to indicate when only one of the couples carried a translocation. Single-nucleotide polymorphism microarray after trophectoderm biopsy was performed...
November 7, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27803589/embryo-genome-profiling-by-single-cell-sequencing-for-successful-preimplantation-genetic-diagnosis-in-a-family-harboring-col4a1-c-1537g-a-p-g513s-mutation
#3
Nayana H Patel, Harsha K Bhadarka, Kruti B Patel, Salil N Vaniawala, Arpan Acharya, Pratap N Mukhopadhyaya, Nilofar R Sodagar
CONTEXT: Genetic profiling of embryos (also known as preimplantation genetic diagnosis) before implantation has dramatically enhanced the success quotient of in vitro fertilization (IVF) in recent times. The technology helps in avoiding selective pregnancy termination since the baby is likely to be free of the disease under consideration. AIM: Screening of embryos free from c.1537G>A; p.G513S mutation within the COL4A1 gene for which the father was known in before be in heterozygous condition...
July 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/27793373/preimplantation-genetic-diagnosis-for-chromosomal-rearrangements-with-the-use-of-array-comparative-genomic-hybridization-at-the-blastocyst-stage
#4
Christodoulos Christodoulou, Annelies Dheedene, Björn Heindryckx, Filip van Nieuwerburgh, Dieter Deforce, Petra De Sutter, Björn Menten, Etienne Van den Abbeel
OBJECTIVE: To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. DESIGN: Retrospective data analysis study. SETTING: Academic centers for reproductive medicine and genetics. PATIENT(S): Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27793366/accurate-quantitation-of-mitochondrial-dna-reveals-uniform-levels-in-human-blastocysts-irrespective-of-ploidy-age-or-implantation-potential
#5
Andrea R Victor, Alan J Brake, Jack C Tyndall, Darren K Griffin, Christo G Zouves, Frank L Barnes, Manuel Viotti
OBJECTIVE: To accurately determine mitochondrial DNA (mtDNA) levels in human blastocysts. DESIGN: Retrospective analysis. SETTING: IVF clinic. PATIENT(S): A total of 1,396 embryos derived from 259 patients. INTERVENTION(S): Blastocyst-derived trophectoderm biopsies were tested by next-generation sequencing (NGS) and quantitative real-time polymerase chain reaction (qPCR). MAIN OUTCOME MEASURE(S): For each sample the mtDNA value was divided by the nuclear DNA value, and the result was further subjected to mathematical analysis tailored to the genetic makeup of the source embryo...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27766059/preimplantation-genetic-diagnosis-of-hemophilia-a
#6
Ming Chen, Shun-Ping Chang, Gwo-Chin Ma, Wen-Hsian Lin, Hsin-Fu Chen, Shee-Uan Chen, Horng-Der Tsai, Feng-Po Tsai, Ming-Ching Shen
Preimplantation genetic diagnosis (PGD) is a powerful tool to tackle the transmission of monogenic inherited disorders in families carrying the diseases from generation to generation. It currently remains a challenging task, despite PGD having been developed over 25 years ago. The major difficulty is it does not have an easy and general formula for all mutations. Different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scanty, whereas timely laboratory diagnosis is mandatory if fresh embryo transfer is desired occasionally...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27760750/random-allocation-of-blastomere-descendants-to-the-trophectoderm-and-icm-of-the-bovine-blastocyst
#7
Lessly P Sepulveda-Rincon, Delphine Dube, Pierre Adenot, Ludivine Laffont, Sylvie Ruffini, Laurence Gall, Bruce K Campbell, Veronique Duranthon, Nathalie Beaujean, Walid E Maalouf
The first lineage specification during mammalian embryo development can be visually distinguished at the blastocyst stage. Two cell lineages are observed on the embryonic-abembryonic axis of the blastocyst: the inner cell mass and the trophectoderm. The timing and mechanisms driving this process are still not fully understood. In mouse embryos, cells seem prepatterned to become certain cell lineage because the first cleavage plane has been related with further embryonic-abembryonic axis at the blastocyst stage...
December 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/27738115/detecting-mosaicism-in-trophectoderm-biopsies-current-challenges-and-future-possibilities
#8
Antonio Capalbo, Filippo Maria Ubaldi, Laura Rienzi, Richard Scott, Nathan Treff
Embryonic mosaicism, defined as the presence of karyotypically distinct cell lines within an embryo, has been frequently reported with a high incidence in preimplantation embryos derived from IVF and is thought to be one of the major biological limitations for the routine application of PGD for aneuploidies (PGD-A). The incidence of mosaicism in preimplantation embryos is in fact reported to be between 4 and 90%. However, these data are in sharp contrast with what is known from clinical pregnancies, where true foetal mosaicism is observed in less than 0...
October 13, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27692437/why-do-euploid-embryos-miscarry-a-case-control-study-comparing-the-rate-of-aneuploidy-within-presumed-euploid-embryos-that-resulted-in-miscarriage-or-live-birth-using-next-generation-sequencing
#9
Susan M Maxwell, Pere Colls, Brooke Hodes-Wertz, David H McCulloh, Caroline McCaffrey, Dagan Wells, Santiago Munné, James A Grifo
OBJECTIVE: To determine whether undetected aneuploidy contributes to pregnancy loss after transfer of euploid embryos that have undergone array comparative genomic hybridization (aCGH). DESIGN: Case-control study. SETTING: University-based fertility center. PATIENT(S): Cases included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in miscarriage. Controls included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in a live birth...
September 27, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27619770/hatching-status-before-embryo-transfer-is-not-correlated-with-implantation-rate-in-chromosomally-screened-blastocysts
#10
Jorge Rodriguez-Purata, Julian Gingold, Joseph Lee, Michael Whitehouse, Richard Slifkin, Christine Briton-Jones, Alan Copperman, Benjamin Sandler
STUDY QUESTION: Do the reproductive outcomes from the transfer of fully hatched (FH) blastocysts differ from those of not fully hatched (NFH) blastocysts? SUMMARY ANSWER: Biochemical pregnancy rate (BPR), implantation rate (IR), live birth rate (LBR) and early pregnancy loss (EPL) rate are similar in FH and NFH single euploid blastocyst embryo transfers. WHAT IS KNOWN ALREADY: The use of extended culture and PGS often leads to transfer of an embryo that is well developed and frequently FH from the zona pellucida...
November 2016: Human Reproduction
https://www.readbyqxmd.com/read/27600956/45-x-product-of-conception-after-preimplantation-genetic-diagnosis-and-euploid-embryo-transfer-evidence-of-a-spontaneous-conception-confirmed-by-dna-fingerprinting
#11
Daniela Bettio, Antonio Capalbo, Elena Albani, Laura Rienzi, Valentina Achille, Anna Venci, Filippo Maria Ubaldi, Paolo Emanuele Levi Setti
BACKGROUND: Preimplantation genetic screening (PGS) provides an opportunity to eliminate a potential implantation failure due to aneuploidy in infertile couples. Some studies clearly show that twins following single embryo transfer (SET) can be the result of a concurrent natural conception and an incidence as high as 1 in 5 twins has been reported. In our case PGS was performed on trophectoderm (TE) biopsies by quantitative polymerase chain reaction (qPCR). The product of conception (POC) was cytogenetically investigated after selection of the placental villi by means of the direct method...
2016: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/27595768/accuracy-of-preimplantation-genetic-screening-pgs-is-compromised-by-degree-of-mosaicism-of-human-embryos
#12
Norbert Gleicher, Andrea Vidali, Jeffrey Braverman, Vitaly A Kushnir, David H Barad, Cynthia Hudson, Yang-Guan Wu, Qi Wang, Lin Zhang, David F Albertini
BACKGROUND: To preclude transfer of aneuploid embryos, current preimplantation genetic screening (PGS) usually involves one trophectoderm biopsy at blastocyst stage, assumed to represent embryo ploidy. Whether one such biopsy can correctly assess embryo ploidy has recently, however, been questioned. METHODS: This descriptive study investigated accuracy of PGS in two ways. Part I: Two infertile couples donated 11 embryos, previously diagnosed as aneuploid and, therefore, destined to be discarded...
September 5, 2016: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/27591228/embryonic-aneuploidy-does-not-differ-among-genetic-ancestry-according-to-continental-origin-as-determined-by-ancestry-informative-markers
#13
Jason M Franasiak, Meir Olcha, Shefali Shastri, Thomas A Molinaro, Haley Congdon, Nathan R Treff, Richard T Scott
STUDY QUESTION: Is embryonic aneuploidy, as determined by comprehensive chromosome screening (CCS), related to genetic ancestry, as determined by ancestry informative markers (AIMs)? SUMMARY ANSWER: In this study, when determining continental ancestry utilizing AIMs, genetic ancestry does not have an impact on embryonic aneuploidy. WHAT IS KNOWN ALREADY: Aneuploidy is one of the best-characterized barriers to ART success and little information exists regarding ethnicity and whole chromosome aneuploidy in IVF...
October 2016: Human Reproduction
https://www.readbyqxmd.com/read/27591227/correlation-between-aneuploidy-standard-morphology-evaluation-and-morphokinetic-development-in-1730-biopsied-blastocysts-a-consecutive-case-series-study
#14
Maria Giulia Minasi, Alessandro Colasante, Teresa Riccio, Alessandra Ruberti, Valentina Casciani, Filomena Scarselli, Francesca Spinella, Francesco Fiorentino, Maria Teresa Varricchio, Ermanno Greco
STUDY QUESTION: Are there correlations among human blastocyst ploidy status, standard morphology evaluation and time-lapse kinetics? SUMMARY ANSWER: Correlations were observed, in that euploid human blastocysts showed a higher percentage with top quality inner cell mass (ICM) and trophectoderm (TE), higher expansion grades and shorter time to start of blastulation, expansion and hatching, compared to aneuploid ones. WHAT IS KNOWN ALREADY: Embryo quality has always been considered an important predictor of successful implantation and pregnancy...
October 2016: Human Reproduction
https://www.readbyqxmd.com/read/27577322/human-embryo-mosaicism-did-we-drop-the-ball-on-chromosomal-testing
#15
Navid Esfandiari, Megan E Bunnell, Robert F Casper
There are newly recognized challenges presented by the occurrence of mosaicism in the context of trophectoderm (TE) biopsy for pre-implantation genetic screening (PGS) in in vitro fertilization (IVF) embryos. Chromosomal mosaicism, known to be significantly higher in IVF embryos than in later prenatal samples, may contribute to errors in diagnosis. In particular, PGS may result in discarding embryos diagnosed as aneuploid but in which the inner cell mass may be completely or mainly euploid, thus representing a false positive diagnosis...
August 30, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27565258/proof-of-concept-preimplantation-genetic-screening-without-embryo-biopsy-through-analysis-of-cell-free-dna-in-spent-embryo-culture-media
#16
Mousa I Shamonki, Helen Jin, Zachary Haimowitz, Lian Liu
OBJECTIVE: To assess whether preimplantation genetic screening (PGS) is possible by testing for free embryonic DNA in spent IVF media from embryos undergoing trophectoderm biopsy. DESIGN: Prospective cohort analysis. SETTING: Academic fertility center. PATIENT(S): Seven patients undergoing IVF and 57 embryos undergoing trophectoderm biopsy for PGS. INTERVENTION(S): On day 3 of development, each embryo was placed in a separate media droplet...
August 24, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27544278/single-center-validation-of-routine-blastocyst-biopsy-implementation
#17
John B Whitney, Mitchel C Schiewe, Robert E Anderson
PURPOSE: The study aims to contrast the efficacy of trophectoderm biopsy preimplantation genetic screening (PGS)/vitrification (VTF)-all cycles to past treatment protocols. Specifically, do these applied technologies increase live birth rates on a per cycle/first transfer basis? MATERIALS AND METHODS: An observational, retrospective cohort study of first transfer outcomes was performed in two groups. Group 1 (PGS) included PGS/VTF-all cycles, and group 2 (no PGS) included the first transfer from non-PGS fresh cycles or VTF-ALL cycles...
August 20, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27497716/a-randomized-and-blinded-comparison-of-qpcr-and-ngs-based-detection-of-aneuploidy-in-a-cell-line-mixture-model-of-blastocyst-biopsy-mosaicism
#18
David Goodrich, Xin Tao, Chelsea Bohrer, Agnieszka Lonczak, Tongji Xing, Rebekah Zimmerman, Yiping Zhan, Richard T Scott, Nathan R Treff
PURPOSE: A subset of preimplantation stage embryos may possess mosaicism of chromosomal constitution, representing a possible limitation to the clinical predictive value of comprehensive chromosome screening (CCS) from a single biopsy. However, contemporary methods of CCS may be capable of predicting mosaicism in the blastocyst by detecting intermediate levels of aneuploidy within a trophectoderm biopsy. This study evaluates the sensitivity and specificity of aneuploidy detection by two CCS platforms using a cell line mixture model of a mosaic trophectoderm biopsy...
August 6, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27491771/pre-implantation-genetic-testing-in-art-who-will-benefit-and-what-is-the-evidence
#19
Alberto Vaiarelli, Danilo Cimadomo, Antonio Capalbo, Giovanna Orlando, Fabio Sapienza, Silvia Colamaria, Antonio Palagiano, Carlo Bulletti, Laura Rienzi, Filippo Maria Ubaldi
Pre-implantation genetic diagnosis for aneuploidy testing (PGD-A) is a tool to identify euploid embryos during IVF. The suggested populations of patients that can benefit from it are infertile women of advanced maternal age, with a history of recurrent miscarriages and/or IVF failures. However, a general consensus has not yet been reached.After the clinical failure of its first version based on cleavage stage biopsy and 9 chromosome-FISH analysis, PGD-A is currently performed by 24 chromosome screening techniques on trophectoderm (TE) biopsies...
October 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27423665/implementing-pgd-pgd-a-in-ivf-clinics-considerations-for-the-best-laboratory-approach-and-management
#20
REVIEW
Antonio Capalbo, Valeria Romanelli, Danilo Cimadomo, Laura Girardi, Marta Stoppa, Lisa Dovere, Domenico Dell'Edera, Filippo Maria Ubaldi, Laura Rienzi
For an IVF clinic that wishes to implement preimplantation genetic diagnosis for monogenic diseases (PGD) and for aneuploidy testing (PGD-A), a global improvement is required through all the steps of an IVF treatment and patient care. At present, CCS (Comprehensive Chromosome Screening)-based trophectoderm (TE) biopsy has been demonstrated as a safe, accurate and reproducible approach to conduct PGD-A and possibly also PGD from the same biopsy. Key challenges in PGD/PGD-A implementation cover genetic and reproductive counselling, selection of the most efficient approach for blastocyst biopsy as well as of the best performing molecular technique to conduct CCS and monogenic disease analysis...
October 2016: Journal of Assisted Reproduction and Genetics
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