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Trophectoderm biopsy

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
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 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 pre-patterned to become certain cell lineage; as the first cleavage plane has been related with further embryonic-abembryonic axis at blastocyst stage. Nevertheless, this possibility has been very debatable...
October 19, 2016: Biology of Reproduction
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
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
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...
September 12, 2016: Human Reproduction
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
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
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
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
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
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 23, 2016: Fertility and Sterility
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
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
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
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...
July 16, 2016: Journal of Assisted Reproduction and Genetics
Drew V Tortoriello, Molina Dayal, Zeki Beyhan, Tahsin Yakut, Levent Keskintepe
OBJECTIVE: The objective of this study is to determine mosaicism and its effect on blastocysts; abnormal blastocysts determined by molecular testing were sequentially biopsied and retested. MATERIAL AND METHOD: We re-biopsied 37 blastocyst-stage abnormal embryos from eight patients, which were reanalyzed to determine the level of concordance between biopsies and inter-laboratory congruence between reputable commercial PGS laboratories. RESULTS: The main outcome measures were intra-embryo variation between sequential embryo biopsies and inter-laboratory variation between two PGS laboratories...
July 16, 2016: Journal of Assisted Reproduction and Genetics
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Wanjun Wang, Jie Li, Guijun Yan, Haixiang Sun
PURPOSE: To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA). METHODS: Multiple displacement amplification (MDA) was performed for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Direct mutation detection by sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used for CCA diagnosis...
July 9, 2016: Journal of Assisted Reproduction and Genetics
Mariana M Piccolomini, Mariana Nicolielo, Tatiana C S Bonetti, Eduardo L A Motta, Paulo C Serafini, Jose Roberto Alegretti
The aneuploidy rates in expanded blastocysts biopsied on days 5 and 6 development were assessed in women undergoing IVF followed by array comparative genomic hybridization. This study included 1171 expanded blastocysts from 465 patients. Among the 465 patients, 215 and 141 underwent embryo biopsy on day 5 and day 6 (46.2% and 30.3%, respectively), and 109 underwent biopsy on both days 5 and 6 (23.4%). The cycles of 206 women were cancelled because only aneuploidy embryos were present (44.3%). The aneuploid embryos were classified according to the type as single, double or complex aneuploidy...
September 2016: Reproductive Biomedicine Online
Raoul Orvieto
The utilization of trophectoderm biopsy combined with comprehensive chromosome screening (CCS) tests for embryonic aneuploidy was recently suggested to improve IVF outcome, however, not without criticisms. The ongoing discussion on the unrestricted clinical adoption of preimplantation genetic screening (PGS) has called for a proper randomized controlled trial (RCT), aiming to further evaluate the cumulative live birth rates (LBRs) following a single oocyte retrieval, utilizing all fresh and frozen embryos. Since this study seems not to appear for various reasons, we present herewith, the hypothetical required RCT based on the hitherto published literature...
2016: Reproductive Biology and Endocrinology: RB&E
Joep Geraedts, Karen Sermon
During the last few years a new generation of preimplantation genetic screening (PGS) has been introduced. In this paper, an overview of the different aspects of this so-called PGS 2.0 with respect to the why (what are the indications), the when (which developmental stage, i.e. which material should be studied) and the how (which molecular technique should be used) is given. With respect to the aims it is clear that PGS 2.0 can be used for a variety of indications. However, the beneficial effect of PGS 2.0 has not been proved yet in RCTs...
August 2016: Molecular Human Reproduction
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