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https://www.readbyqxmd.com/read/27908215/in-vitro-effect-of-myo-inositol-on-sperm-motility-in-normal-and-oligoasthenospermia-patients-undergoing-in-vitro-fertilization
#1
P G Artini, E Casarosa, E Carletti, P Monteleone, A Di Noia, O M Di Berardino
It is a known fact that abnormal seminal liquid specimens contain abnormal amounts of oxygen free radicals and reactive oxygen species (ROS), and that the use of antioxidant molecules both in vivo and in vitro leads to improvement of semen quality in terms of motility, reduction in DNA damage, with obvious consequences on the fertilization potential. Myo-inositol has been observed to have anti-oxidant properties and be present in much greater concentrations specifically in seminal liquid than in the blood. Moreover, there seems to be a direct relationship between myo-inositol and mitochondrial membrane potential (MMP) and sperm motility...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27884753/cell-free-dna-induced-apoptosis-of-granulosa-cells-by-oxidative-stress
#2
Yichun Guan, Wenjuan Zhang, Xingling Wang, Pengfei Cai, Qi Jia, Wenjie Zhao
BACKGROUND: Cell-free DNA is a DNA fragment that is produced by cell apoptosis which can affect the micro-environment of cell apoptosis. The levels of Cell-free DNA have been associated with successful rate of in vitro fertilization-embryo transfer (IVF-ET) and embryonic development. Our aim is to determine the relationship between cell-free DNA and embryo quality. The mechanisms of cell-free DNA in granulose and the apoptosis will be determined also. METHODS: The study enrolled patients who were undergone IVF for the first time and grouped the patients as pregnant (n=130) and non-pregnant (n=59)...
November 21, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
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/27688762/noninvasive-chromosome-screening-of-human-embryos-by-genome-sequencing-of-embryo-culture-medium-for-in-vitro-fertilization
#4
Juanjuan Xu, Rui Fang, Li Chen, Daozhen Chen, Jian-Ping Xiao, Weimin Yang, Honghua Wang, Xiaoqing Song, Ting Ma, Shiping Bo, Chong Shi, Jun Ren, Lei Huang, Li-Yi Cai, Bing Yao, X Sunney Xie, Sijia Lu
Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst...
October 18, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27682145/pre-implantation-genetic-screening-techniques-implications-for-clinical-prenatal-diagnosis
#5
Stefan C Kane, Elissa Willats, Sammya Bezerra Maia E Holanda Moura, Jonathan Hyett, Fabrício da Silva Costa
Chromosomal aneuploidy is responsible for a significant proportion of pregnancy failures, whether conceived naturally or through in vitro fertilization (IVF). In an effort to improve the success rate of IVF, screening embryos for aneuploidy - or pre-implantation genetic screening (PGS) - has been proposed as a means of ensuring only euploid embryos are selected for transfer. Early PGS approaches were based on fluorescence in situ hybridization testing, and have been shown not to improve live birth rates. Recent developments in genetic testing technologies - such as next-generation sequencing and quantitative polymerase chain reaction, coupled with embryo biopsy at the blastocyst stage - have shown promise in improving IVF outcomes, but they remain to be validated in adequately powered, prospective randomized trials...
September 29, 2016: Fetal Diagnosis and Therapy
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
#6
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/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#7
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27371353/cell-free-dna-screening-in-clinical-practice-abnormal-autosomal-aneuploidy-and-microdeletion-results
#8
Stephanie G Valderramos, Rashmi R Rao, Emily W Scibetta, Neil S Silverman, Christina S Han, Lawrence D Platt
BACKGROUND: Since its commercial release in 2011 cell-free DNA screening has been rapidly adopted as a routine prenatal genetic test. However, little is known about its performance in actual clinical practice. OBJECTIVE: We sought to investigate factors associated with the accuracy of abnormal autosomal cell-free DNA results. STUDY DESIGN: We conducted a retrospective cohort study of 121 patients with abnormal cell-free DNA results from a referral maternal-fetal medicine practice from March 2013 through July 2015...
June 28, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27250771/viable-offspring-obtained-from-prm1-deficient-sperm-in-mice
#9
Naoki Takeda, Kazuya Yoshinaga, Kenryo Furushima, Kazufumi Takamune, Zhenghua Li, Shin-Ichi Abe, Shin-Ichi Aizawa, Ken-Ichi Yamamura
Protamines are expressed in the spermatid nucleus and allow denser packaging of DNA compared with histones. Disruption of the coding sequence of one allele of either protamine 1 (Prm1) or Prm2 results in failure to produce offspring, although sperm with disrupted Prm1 or Prm2 alleles are produced. Here, we produced Prm1-deficient female chimeric mice carrying Prm1-deficient oocytes. These mice successfully produced Prm1(+/-) male mice. Healthy Prm1(+/-) offspring were then produced by transferring blastocysts obtained via in vitro fertilization using zona-free oocytes and sperm from Prm1(+/-) mice...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27006263/pregnancy-prediction-by-free-sperm-dna-and-sperm-dna-fragmentation-in-semen-specimens-of-ivf-icsi-et-patients
#10
Theofania Bounartzi, Konstantinos Dafopoulos, George Anifandis, Christina I Messini, Chrysoula Koutsonikou, Spyros Kouris, Maria Satra, Sotirios Sotiriou, Nicholas Vamvakopoulos, Ioannis E Messinis
The purpose of this study was to evaluate the predictive value of free sperm plasma DNA (f-spDNA) and sperm DNA fragmentation (SDF), in semen specimens from men undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) treatments. Fifty-five semen samples were evaluated during 55 consecutive IVF/ICSI-ET cycles. F-spDNA was determined by conventional quantitative real-time PCR-Sybr green detection approach, while evaluation of sperm DNA damage was performed using the sperm chromatin dispersion (SCD) assay...
April 2016: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/26970114/prospective-first-trimester-screening-for-trisomies-by-cell-free-dna-testing-of-maternal-blood-in-twin-pregnancy
#11
L Sarno, R Revello, E Hanson, R Akolekar, K H Nicolaides
OBJECTIVES: First, to examine in twin pregnancies the performance of first-trimester screening for fetal trisomies 21, 18 and 13 by cell-free (cf) DNA testing of maternal blood and, second, to compare twin and singleton pregnancies regarding the distribution of fetal fraction of cfDNA and rate of failure to obtain a result. METHODS: This was a prospective study in 438 twin and 10 698 singleton pregnancies undergoing screening for fetal trisomies by cfDNA testing at 10 + 0 to 13 + 6 weeks' gestation...
June 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/26817415/a-non-inheritable-maternal-cas9-based-multiple-gene-editing-system-in-mice
#12
Takayuki Sakurai, Akiko Kamiyoshi, Hisaka Kawate, Chie Mori, Satoshi Watanabe, Megumu Tanaka, Ryuichi Uetake, Masahiro Sato, Takayuki Shindo
The CRISPR/Cas9 system is capable of editing multiple genes through one-step zygote injection. The preexisting method is largely based on the co-injection of Cas9 DNA (or mRNA) and guide RNAs (gRNAs); however, it is unclear how many genes can be simultaneously edited by this method, and a reliable means to generate transgenic (Tg) animals with multiple gene editing has yet to be developed. Here, we employed non-inheritable maternal Cas9 (maCas9) protein derived from Tg mice with systemic Cas9 overexpression (Cas9 mice)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26787646/role-of-sirt3-in-mitochondrial-biogenesis-and-developmental-competence-of-human-in-vitro-matured-oocytes
#13
Hong-Cui Zhao, Ting Ding, Yun Ren, Tian-Jie Li, Rong Li, Yong Fan, Jie Yan, Yue Zhao, Mo Li, Yang Yu, Jie Qiao
STUDY QUESTION: Does Sirt3 dysfunction result in poor developmental outcomes for human oocytes after in vitro maturation (IVM)? SUMMARY ANSWER: Inefficient Sirt3 expression induced decreased mitochondrial DNA copy number and biogenesis, and therefore impaired the developmental competence of human IVM oocytes. WHAT IS KNOWN ALREADY: Cytoplasmic immaturity in IVM oocytes may lead to reduced developmental competence. Mitochondrial dysfunction results in the accumulation of free radicals and leads to DNA mutations, protein damage, telomere shortening and apoptosis...
March 2016: Human Reproduction
https://www.readbyqxmd.com/read/26332378/clinical-performance-of-non-invasive-prenatal-testing-nipt-using-targeted-cell-free-dna-analysis-in-maternal-plasma-with-microarrays-or-next-generation-sequencing-ngs-is-consistent-across-multiple-controlled-clinical-studies
#14
Renee Stokowski, Eric Wang, Karen White, Annette Batey, Bo Jacobsson, Herb Brar, Madhumitha Balanarasimha, Desiree Hollemon, Andrew Sparks, Kypros Nicolaides, Thomas J Musci
OBJECTIVE: To evaluate the clinical performance of non-invasive prenatal testing for trisomy 21, 18, and 13 using targeted cell-free DNA (cfDNA) analysis. METHODS: Targeted cfDNA analysis using DANSR™ and FORTE™ with microarray quantitation was used to evaluate the risk of trisomy 21, 18, and 13 in blinded samples from 799 singleton, twin, natural, and IVF pregnancies. Subjects either had fetal chromosome evaluation by karyotype, FISH, QF-PCR, or karyotype for newborns with suspected aneuploidy at birth...
December 2015: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26288130/cell-free-dna-in-human-follicular-microenvironment-new-prognostic-biomarker-to-predict-in-vitro-fertilization-outcomes
#15
Sabine Traver, Elodie Scalici, Tiffany Mullet, Nicolas Molinari, Claire Vincens, Tal Anahory, Samir Hamamah
Cell-free DNA (cfDNA) fragments, detected in blood and in other biological fluids, are released from apoptotic and/or necrotic cells. CfDNA is currently used as biomarker for the detection of many diseases such as some cancers and gynecological and obstetrics disorders. In this study, we investigated if cfDNA levels in follicular fluid (FF) samples from in vitro fertilization (IVF) patients, could be related to their ovarian reserve status, controlled ovarian stimulation (COS) protocols and IVF outcomes. Therefore, 117 FF samples were collected from women (n = 117) undergoing IVF/Intra-cytoplasmic sperm injection (ICSI) procedure and cfDNA concentration was quantified by ALU-quantitative PCR...
2015: PloS One
https://www.readbyqxmd.com/read/25970589/noninvasive-digital-detection-of-fetal-dna-in-plasma-of-4-week-pregnant-women-following-in-vitro-fertilization-and-embryo-transfer
#16
Bedri Karakas, Wafa Qubbaj, Saad Al-Hassan, Serdar Coskun
The discovery of cell-free fetal DNA (cfDNA) circulating in the maternal blood has provided new opportunities for noninvasive prenatal diagnosis (NIPD). However, the extremely low levels of cfDNA within a high background of the maternal DNA in maternal circulation necessitate highly sensitive molecular techniques for its reliable use in NIPD. In this proof of principle study, we evaluated the earliest possible detection of cfDNA in the maternal plasma by a bead-based emulsion PCR technology known as BEAMing (beads, emulsion, amplification, magnetics)...
2015: PloS One
https://www.readbyqxmd.com/read/25826721/downregulation-of-dna-methyltransferase-1-in-zona-free-cloned-buffalo-bubalus-bubalis-embryos-by-small-interefering-rna-improves-in-vitro-development-but-does-not-alter-dna-methylation-level
#17
Naresh L Selokar, Monika Saini, Himanshu Agrawal, Prabhat Palta, Manmohan S Chauhan, Radheysham Manik, Suresh K Singla
Aberrant epigenetic reprogramming, especially genomic hypermethylation, is implicated as the primary reason behind the failure of the cloning process during somatic cell nuclear transfer (SCNT). We transfected one-cell-stage zona-free buffalo embryos produced by handmade cloning with 50 nM DNMT1 small interfering RNA (siRNA), using lipofectamine, to knockdown the DNA methyltransferase 1 (DNMT1) gene. siRNA treatment decreased (p<0.001) the expression level of DNMT1 mRNA and DNMT1 protein in the one-cell-stage embryos and increased (p<0...
April 2015: Cellular Reprogramming
https://www.readbyqxmd.com/read/25816038/medium-based-noninvasive-preimplantation-genetic-diagnosis-for-human-%C3%AE-thalassemias-sea
#18
Haitao Wu, Chenhui Ding, Xiaoting Shen, Jing Wang, Rong Li, Bing Cai, Yanwen Xu, Yiping Zhong, Canquan Zhou
To develop a noninvasive medium-based preimplantation genetic diagnosis (PGD) test for α-thalassemias-SEA. The embryos of α-thalassemia-SEA carriers undergoing in vitro fertilization (IVF) were cultured. Single cells were biopsied from blastomeres and subjected to fluorescent gap polymerase chain reaction (PCR) analysis; the spent culture media that contained embryo genomic DNA and corresponding blastocysts as verification were subjected to quantitative-PCR (Q-PCR) detection of α-thalassemia-SEA. The diagnosis efficiency and allele dropout (ADO) ratio were calculated, and the cell-free DNA concentration was quantitatively assessed in the culture medium...
March 2015: Medicine (Baltimore)
https://www.readbyqxmd.com/read/25685330/clinical-outcome-of-preimplantation-genetic-diagnosis-and-screening-using-next-generation-sequencing
#19
Yueqiu Tan, Xuyang Yin, Shuoping Zhang, Hui Jiang, Ke Tan, Jian Li, Bo Xiong, Fei Gong, Chunlei Zhang, Xiaoyu Pan, Fang Chen, Shengpei Chen, Chun Gong, Changfu Lu, Keli Luo, Yifan Gu, Xiuqing Zhang, Wei Wang, Xun Xu, Gábor Vajta, Lars Bolund, Huanming Yang, Guangxiu Lu, Yutao Du, Ge Lin
BACKGROUND: Next generation sequencing (NGS) is now being used for detecting chromosomal abnormalities in blastocyst trophectoderm (TE) cells from in vitro fertilized embryos. However, few data are available regarding the clinical outcome, which provides vital reference for further application of the methodology. Here, we present a clinical evaluation of NGS-based preimplantation genetic diagnosis/screening (PGD/PGS) compared with single nucleotide polymorphism (SNP) array-based PGD/PGS as a control...
2014: GigaScience
https://www.readbyqxmd.com/read/25569013/discordant-embryonic-aneuploidy-testing-and-prenatal-ultrasonography-prompting-androgen-insensitivity-syndrome-diagnosis
#20
Jason M Franasiak, Xinxin Yao, Elena Ashkinadze, Todd Rosen, Richard T Scott
BACKGROUND: Multimodal prenatal screening for developmental pathology is increasingly common. In this case, definitive prenatal diagnosis of androgen insensitivity syndrome was diagnosed after discordant results from karyotypes determined by embryonic preimplantation genetic screening and antenatal ultrasound results. CASE: A 38-year-old woman, gravida 2 para 0010, undergoing in vitro fertilization with preimplantation genetic screening transferred one male and one female embryo...
February 2015: Obstetrics and Gynecology
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