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preimplantation genetic screening

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https://www.readbyqxmd.com/read/28647784/replacing-single-frozen-thawed-euploid-embryos-in-a-natural-cycle-in-ovulatory-women-may-increase-live-birth-rates-compared-to-medicated-cycles-in-anovulatory-women
#1
Alexis P Melnick, Robert Setton, Logan D Stone, Nigel Pereira, Kangpu Xu, Zev Rosenwaks, Steven D Spandorfer
PURPOSE: The goal of this study was to compare pregnancy outcomes between natural frozen embryo transfer (FET) cycles in ovulatory women and programmed FET cycles in anovulatory women after undergoing in vitro fertilization with preimplantation genetic screening (IVF-PGS). METHODS: This was a retrospective cohort study performed at an academic medical center. Patients undergoing single FET IVF-PGS cycles between October 2011 and December 2014 were included. Patients were stratified by type of endometrial replacement: programmed cycles with estrogen/progesterone replacement and natural cycles...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28639180/initial-maternal-serum-human-chorionic-gonadotropin-levels-in-pregnancies-achieved-after-assisted-reproductive-technology-are-higher-after-preimplantation-genetic-screening-and-after-frozen-embryo-transfer-a-retrospective-cohort
#2
Elie Hobeika, Sonali Singh, Shaveta Malik, Eric S Knochenhauer, Michael L Traub
PURPOSE: Few published articles have compared initial hCG values across all different types of ART cycles, including cycles with fresh or frozen embryo transfer. No articles have compared initial hCG values in cycles utilizing preimplantation genetic screening (PGS). The purpose of this study is to compare initial hCG values after fresh embryo transfer, frozen embryo transfer, and after PGS. METHODS: This was a single-center retrospective cohort study at an academically affiliated private IVF center...
June 21, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#3
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28617148/outcomes-of-ivf-cycles-coupled-with-pgs-by-acgh-of-embryos-from-donor-and-autologous-oocytes-transferred-after-vitrification-to-women-of-advanced-maternal-age
#4
Elena M Fedorova, Svetlana A Shlykova, Ksenia V Shunkina, Olga G Zaitceva, Elena N Lapina, Taras V Yanchuk, Alla S Kalugina
It is well documented that aneuploidy rate in preimplantation embryos increases with the mother's age, and at the same time the number of oocytes diminishes. Consequently, for patients of advanced maternal age two options are available to overcome these limitations: use of oocytes from young donors, or use of own oocytes coupled with preimplantation genetic screening (PGS) for 24 chromosomes. However, it is not clear which strategy might be more effective. The aim of this retrospective study was to evaluate outcomes of IVF cycles coupled with transfer of vitrified embryos from donor or autologous oocytes, both with or without PGS...
June 15, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28614992/preimplantation-genetic-screening
#5
Joyce C Harper
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates...
January 1, 2017: Journal of Medical Screening
https://www.readbyqxmd.com/read/28579407/detailed-investigation-into-the-cytogenetic-constitution-and-pregnancy-outcome-of-replacing-mosaic-blastocysts-detected-with-the-use-of-high-resolution-next-generation-sequencing
#6
Santiago Munné, Joshua Blazek, Michael Large, Pedro A Martinez-Ortiz, Haley Nisson, Emmeline Liu, Nicoletta Tarozzi, Andrea Borini, Amie Becker, John Zhang, Susan Maxwell, James Grifo, Dhruti Babariya, Dagan Wells, Elpida Fragouli
OBJECTIVE: To determine the pregnancy outcome potential of mosaic embryos, detected by means of preimplantation genetic screening (PGS) with the use of next-generation sequencing (NGS). DESIGN: Retrospective study. SETTING: Genetics laboratories. PATIENT(S): PGS cycles during which either mosaic or euploid embryos were replaced. INTERVENTION(S): Blastocysts were biopsied and processed with the use of NGS, followed by frozen embryo transfer...
June 1, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28578020/pathogenicity-analysis-of-novel-variations-in-chinese-han-patients-with-polycystic-kidney-disease
#7
Zishui Fang, Shiyan Xu, Yonghua Wang, Liwei Sun, Yi Feng, Yibin Guo, Hongyi Li, Weiying Jiang
OBJECTIVE: Locus and allellic heterogeneity in polycystic kidney disease (PKD) is a great challenge in precision diagnosis. We aim to establish comprehensive methods to distinguish the pathogenic mutations from the variations in PKD1, PKD2 and PKHD1 genes in a limited time and lay the foundation for precisely prenatal diagnosis, preimplantation genetic diagnosis and presymptom diagnosis of PKD. METHODS: Nested PCR combined with direct DNA sequencing were used to screen variations in PKD1, PKD2 and PKHD1 genes...
May 31, 2017: Gene
https://www.readbyqxmd.com/read/28560610/association-between-growth-dynamics-morphological-parameters-the-chromosomal-status-of-the-blastocysts-and-clinical-outcomes-in-ivf-pgs-cycles-with-single-embryo-transfer
#8
Oleksii O Barash, Kristen A Ivani, Susan P Willman, Evan M Rosenbluth, Deborah S Wachs, Mary D Hinckley, Sara Pittenger Reid, Louis N Weckstein
PURPOSE: The purpose of the present study is to examine interconnection between speed of embryo development, the genetic status of the blastocysts, and clinical outcomes in IVF preimplantation genetic screening (PGS) cycles with single embryo transfer (SET). METHODS: The retrospective comparative study has been performed between January 2013 and January 2016. Seven hundred thirty-seven cycles of IVF treatment with PGS, followed by 503 SETs, were included in the study...
May 30, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28555358/complex-chromosomal-rearrangement-a-lesson-learned-from-pgs
#9
Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef, Mira Malcov
PURPOSE: The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring. METHODS: A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm...
May 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28548214/the-performance-of-malbac-and-mda-methods-in-the-identification-of-concurrent-mutations-and-aneuploidy-screening-to-diagnose-beta-thalassaemia-disorders-at-the-single-and-multiple-cell-levels
#10
WeiQiang Liu, HuiMin Zhang, Dan Hu, SiJia Lu, XiaoFang Sun
AIM: To select an optimal whole-genome amplification (WGA) method to improve the efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta-thalassaemia disorders. METHODS: Fifty-seven fibroblast samples with defined beta-thalassaemia variations and forty-eight single-blastomere samples were amplified from single-, two-, and five-cell samples by multiple annealing and looping-based amplification cycles (MALBAC) and the multiple displacement amplification (MDA) method...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28537237/-comparative-results-of-preimplantation-genetic-screening-by-array-comparative-genomic-hybridization-and-new-generation-sequencing
#11
N V Aleksandrova, E S Shubina, A N Ekimov, T A Kodyleva, I S Mukosey, N P Makarova, E V Kulakova, L A Levkov, I Yu Barkov, D Yu Trofimov, G T Sukhikh
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method...
March 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/28498723/advances-in-preimplantation-genetic-testing-for-monogenic-disease-and-aneuploidy
#12
Nathan R Treff, Rebekah S Zimmerman
Genetic testing of preimplantation embryos promises to prevent monogenic disease in children born to at-risk couples, the transfer of unbalanced embryos to patients carrying a balanced translocation, and the use of aneuploid embryos created during in vitro fertilization. Technologies have evolved from fluorescence in situ hybridization to next-generation-sequencing-based aneuploidy screening and allow for simultaneous testing of multiple genetic abnormalities in a single biopsy. The field has also shifted away from polar body or blastomere biopsy and toward trophectoderm biopsy as the new standard...
May 12, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28497410/could-monopronucleated-icsi-zygotes-be-considered-for-transfer-analysis-through-time-lapse-monitoring-and-pgs
#13
S Mateo, F Vidal, M Parriego, I Rodríguez, V Montalvo, A Veiga, M Boada
PURPOSE: The purpose of this study was to investigate the chromosomal constitution and the developmental potential of intracytoplasmic sperm injection (ICSI) deriving embryos displaying a single pronucleus at the zygote stage. METHODS: Eighty-eight embryos from single pronucleus (1PN) two polar bodies (2PB) ICSI zygotes from 64 preimplantational genetic screening (PGS) cycles (October 2012-December 2014), were retrospectively analyzed. Zygotes were cultured in a time-lapse incubator...
May 11, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28476179/current-experience-concerning-mosaic-embryos-diagnosed-during-preimplantation-genetic-screening
#14
REVIEW
Gary L Harton, Cengiz Cinnioglu, Francesco Fiorentino
The concept of embryos containing multiple cell lines (mosaicism) is not new, but much attention has been paid to this concept recently owing to recent advances in molecular techniques to analyze human embryos. Mosaicism in embryos has been known and reported for some time, originally in early cleavage-stage embryos diagnosed with the use of fluorescence in situ hybridization (FISH). However, the early data have come under attack owing to the limited ability of FISH to reliably detect the actual copy number count of chromosomes as well as potential ascertainment bias of those early studies, which were all performed on already analyzed embryos found to be aneuploid...
May 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28459185/karyomapping-and-how-is-it-improving-preimplantation-genetics
#15
Rebecca L Gould, Darren K Griffin
Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different. Areas covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28450889/identification-of-mosaic-and-segmental-aneuploidies-by-next-generation-sequencing-in-preimplantation-genetic-screening-can-improve-clinical-outcomes-compared-to-array-comparative-genomic-hybridization
#16
Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee, Chia-Lin Hsieh, Huai-Lin Wang, Shee-Uan Chen
BACKGROUND: Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably lower than the euploid embryos. The superior capability of next-generation sequencing (NGS) to detect chromosomal mosaicism in preimplantation genetic screening (PGS) remains controversial, and several data displayed similar implantation and pregnancy rates using NGS or array comparative genomic hybridization (aCGH)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28449669/a-single-trophectoderm-biopsy-at-blastocyst-stage-is-mathematically-unable-to-determine-embryo-ploidy-accurately-enough-for-clinical-use
#17
Norbert Gleicher, Jacob Metzger, Gist Croft, Vitaly A Kushnir, David F Albertini, David H Barad
BACKGROUND: It has become increasingly apparent that the trophectoderm (TE) at blastocyst stage is much more mosaic than has been appreciated. Whether preimplantation genetic screening (PGS), utilizing a single TE biopsy (TEB), can reliably determine embryo ploidy has, therefore, increasingly been questioned in parallel. METHODS: We for that reason here established 2 mathematical models to assess probabilities of false-negative and false-positive results of an on average 6-cell biopsy from an approximately 300-cell TE...
April 27, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28433375/mosaicism-between-trophectoderm-and-inner-cell-mass
#18
REVIEW
Antonio Capalbo, Laura Rienzi
Defining the actual incidence and prevalence of mosaicism in human blastocysts still remains a difficult task. The small amount of evidence generated by animal and human studies does not support the existence of mechanisms involved in developmental arrest, clonal depletion, or aneuploidy rescue for abnormal cells in euploid/aneuploid embryos during preimplantation development. However, studies in humans are mainly descriptive and lack functional evidence. Understanding the biological mechanisms that beset preimplantation differentiation holds the potential to reveal the role of aneuploidies and gene dosage imbalances in cell fate decision, providing important clues on the origin and evolution of embryonic mosaicism...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433371/in%C3%A2-vitro-fertilization-with-preimplantation-genetic-diagnosis-for-aneuploidies-in-advanced-maternal-age-a-randomized-controlled-study
#19
Carmen Rubio, José Bellver, Lorena Rodrigo, Gema Castillón, Alfredo Guillén, Carmina Vidal, Juan Giles, Marcos Ferrando, Sergio Cabanillas, José Remohí, Antonio Pellicer, Carlos Simón
OBJECTIVE: To determine the clinical value of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) in women of advanced maternal age (AMA; between 38 and 41 years). DESIGN: This was a multicenter, randomized trial with two arms: a PGD-A group with blastocyst transfer, and a control group with blastocyst transfer without PGD-A. SETTING: Private reproductive centers. PATIENT(S): A total of 326 recruited patients fit the inclusion criteria, and 205 completed the study (100 in the PGD-A group and 105 in the control group)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433370/assessing-the-true-incidence-of-mosaicism-in-preimplantation-embryos
#20
REVIEW
Maria Vera-Rodriguez, Carmen Rubio
Modern technologies applied to the field of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) have improved the ability to identify the presence of mosaicism. Consequently, new questions can now be addressed regarding the potential impact of embryo mosaicism on diagnosis accuracy and the feasibility of considering mosaic embryos for transfer. The frequency of chromosomal mosaicism in products of conception (POCs) of early miscarriages has been reported to be low. Mosaic embryos with an aneuploid inner cell mass are typically lost during the first trimester owing to spontaneous miscarriages...
April 19, 2017: Fertility and Sterility
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