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Preimplantation genetic screening

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https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#1
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28735705/impact-of-preimplantation-genetic-screening-on-donor-oocyte-recipient-cycles-in-the-united-states
#2
David H Barad, Sarah K Darmon, Vitaly A Kushnir, David F Albertini, Norbert Gleicher
OBJECTIVE: Our objective was to estimate the contribution of Preimplantation genetic screening to in-vitro fertilization pregnancy outcomes in donor oocyte-recipient cycles. METHODS: This is a retrospective cross-sectional study of United States national data from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2005-2013. Society for Assisted Reproductive Technology Clinic Outcome Reporting relies on voluntarily annual reports by over 90% of United States in-vitro fertilization centers...
July 20, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#3
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28697911/preimplantation-genetic-screening-what-is-the-clinical-efficiency
#4
EDITORIAL
Richard J Paulson
No abstract text is available yet for this article.
July 8, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28676910/morphokinetic-parameters-from-a-time-lapse-monitoring-system-cannot-accurately-predict-the-ploidy-of-embryos
#5
Jingye Zhang, Wenrong Tao, Hui Liu, Guanling Yu, Mei Li, Shuiying Ma, Keliang Wu
PURPOSE: This study aimed to test whether there is an association between embryo morphokinetic parameters and ploidy status. METHODS: Patients with high risk of aneuploidy were analyzed by time-lapse microscopy combined with preimplantation genetic screening (PGS). Accordingly, 256 blastocysts from 75 patients were subjected to trophectoderm biopsy and microarray comparative genomic hybridization (array-CGH). Blastocyst development process was analyzed using time-lapse images...
July 4, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28666459/towards-a-better-understanding-of-preimplantation-genetic-screening-for-aneuploidy-insights-from-a-virtual-trial-for-women-under-the-age-of-40-when-transferring-embryos-one-at-a-time
#6
Paul N Scriven
BACKGROUND: The aim of this theoretical study is to explore the cost-effectiveness of aneuploidy screening in a UK setting for every woman aged under the age of 40 years when fresh and vitrified-warmed embryos are transferred one at a time in a first full cycle of assisted conception. METHODS: It is envisaged that a 24-chromosome genetic test for aneuploidy could be used to exclude embryos with an abnormal test result from transfer, or used only to rank embryos with the highest potential to be viable; the effect on cumulative outcome is assessed...
June 30, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28651959/patients-with-endometriosis-have-aneuploidy-rates-equivalent-to-their-age-matched-peers-in-the-in%C3%A2-vitro-fertilization-population
#7
Caroline Juneau, Emily Kraus, Marie Werner, Jason Franasiak, Scott Morin, George Patounakis, Thomas Molinaro, Dominique de Ziegler, Richard T Scott
OBJECTIVE: To determine whether endometriosis ultimately results in an increased risk of embryonic aneuploidy. DESIGN: Retrospective cohort. SETTING: Infertility clinic. PATIENT(S): Patients participating in an in vitro fertilization (IVF) cycle from 2009-2015 using preimplantation genetic screening (PGS) who had endometriosis identified by surgical diagnosis or by ultrasound findings consistent with a persistent space-occupying disease whose sonographic appearance was consistent with endometriosis...
June 23, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#8
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28648921/karyomapping-a-single-centre-s-experience-from-application-of-methodology-to-ongoing-pregnancy-and-live-birth-rates
#9
Jara Ben-Nagi, Dagan Wells, Karen Doye, Kalliopi Loutradi, Holly Exeter, Emily Drew, Samer Alfarawati, Roy Naja, Paul Serhal
This study aimed to determine whether karyomapping can be applied to couples requiring preimplantation genetic diagnosis (PGD) for single gene disorder (SGD) and/or chromosomal rearrangement. 75/82 (91.5%) and 6/82 (7.3%) couples were referred for autosomal SGD and X-linked disease, respectively. One couple (1.2%) was referred for SGD and chromosomal rearrangement. Of 608 embryos, 146 (24%, 95% CI 21-28) day-3 and 462 (76%, 95% CI 72-79) blastocyst biopsies were performed. A total of 81 embryo transfers were performed; 16/81 (20%) were following day-3 embryo biopsy, 65/81 (80%) were following blastocyst biopsy and cryopreserved embryo transfer...
June 15, 2017: Reproductive Biomedicine Online
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
July 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28578020/pathogenicity-analysis-of-novel-variations-in-chinese-han-patients-with-polycystic-kidney-disease
#16
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
#17
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
#18
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
#19
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
#20
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
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