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Preimplantation genetic

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https://www.readbyqxmd.com/read/28211357/preimplantation-genetic-diagnosis-and-screening-by-array-comparative-genomic-hybridisation-experience-of-more-than-100-cases-in-a-single-centre
#1
J Fc Chow, W Sb Yeung, V Cy Lee, E Yl Lau, P C Ho, E Hy Ng
INTRODUCTION: Preimplantation genetic screening has been proposed to improve the in-vitro fertilisation outcome by screening for aneuploid embryos or blastocysts. This study aimed to report the outcome of 133 cycles of preimplantation genetic diagnosis and screening by array comparative genomic hybridisation. METHODS: This study of case series was conducted in a tertiary assisted reproductive centre in Hong Kong. Patients who underwent preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening between 1 April 2012 and 30 June 2015 were included...
February 17, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#2
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28192253/hematopoietic-stem-cell-transplantation-using-preimplantation-genetic-diagnosis-and-hla-typing-for-hla-matched-sibling-donor-a-turkish-multicenter-study
#3
Emin Kurekci, Alphan Küpesiz, Sema Anak, Gülyüz Öztürk, Orhan Gürsel, Serap Aksoylar, Talia Ileri, Barış Kuşkonmaz, Ibrahim Eker, Mualla Cetin, Gülsün Tezcan Karasu, Zühre Kaya, Tunç Fışgın, Mehmet Ertem, Savaş Kansoy, Mehmet Akif Yeşilipek
Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transferring them to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but also by using HLA matching together, it offers preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling, who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies, whose donors were their siblings borned with this technique in Turkey since 2008...
February 10, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28188593/re-analysis-of-aneuploidy-blastocysts-with-an-inner-cell-mass-and-different-regional-trophectoderm-cells
#4
Jin Huang, Liying Yan, Sijia Lu, Nan Zhao, Jie Qiao
PURPOSE: The purpose of this study is to explore which part of the trophectoderm best represents the inner cell mass after aCGH analysis. METHODS: Fifty-one preimplantation genetic diagnosis/preimplantation genetic screening of abnormal blastocysts diagnosed by array comparative genomic hybridization were included in this study. Blastocysts were thawed, incubated for 3 to 4 h, and then biopsied. Four regions were biopsied per blastocyst, including the inner cell mass (ICM), trophectoderm (TE) cells opposite the ICM, TE cells at the upper right of the ICM, and TE cells at the lower right of the ICM...
February 10, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28184250/meiotic-outcome-in-two-carriers-of-y-autosome-reciprocal-translocations-selective-elimination-of-certain-segregants
#5
Harita Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal, Joy Delhanty
BACKGROUND: Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling determination of the segregation types that were compatible with fertilization and preimplantation embryo development. Both PGD and follow up analysis were carried out via fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic segregation types to be determined in a total of 27 embryos...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28153493/cyp2c76-deficiency-is-embryonic-lethal-in-cynomolgus-macaques-the-potential-role-of-cyp2c76-in-early-embryogenesis
#6
Shuzo Koyama, Koji Fukuda, Sho Watanabe, Akinori Matsushita, Hideaki Tsuchiya, Nahoko Fujinami, Sakae Kohara, Norie Murayama, Masashi Nagano, Hiroshi Yamazaki, Koichiro Fukuzaki, Yasuhiro Uno, Yoshihiko Hosoi
Cynomolgus macaques are an important primate species for drug metabolism studies; however cynomolgus CYP2C76, an important drug-metabolizing enzyme, accounts for drug metabolism differences to humans, so that CYP2C76-null animals might show drug-metabolizing properties more similar to humans. In this study, attempts were made to produce CYP2C76-null animals by assisted reproduction technology. Oocytes and sperm collected from the heterozygotes for the null allele (c.449TG > A) were subjected to intracytoplasmic sperm injection, and the embryos produced were cultured in vitro through the blastocyst stage...
October 27, 2016: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/28139240/optimal-euploid-embryo-transfer-strategy-fresh-versus-frozen-after-preimplantation-genetic-screening-with-next-generation-sequencing-a-randomized-controlled-trial
#7
Alison Coates, Allen Kung, Emily Mounts, John Hesla, Brandon Bankowski, Elizabeth Barbieri, Baris Ata, Jacques Cohen, Santiago Munné
OBJECTIVE: To compare two commonly used protocols (fresh vs. vitrified) used to transfer euploid blastocysts after IVF with preimplantation genetic screening. DESIGN: Randomized controlled trial. SETTING: Private assisted reproduction center. PATIENT(S): A total of 179 patients undergoing IVF treatment using preimplantation genetic screening. INTERVENTION(S): Patients were randomized at the time of hCG administration to either a freeze-all cycle or a fresh day 6 ET during the stimulated cycle...
January 27, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28134930/xist-dependent-imprinted-x-inactivation-and-the-early-developmental-consequences-of-its-failure
#8
Maud Borensztein, Laurène Syx, Katia Ancelin, Patricia Diabangouaya, Christel Picard, Tao Liu, Jun-Bin Liang, Ivaylo Vassilev, Rafael Galupa, Nicolas Servant, Emmanuel Barillot, Azim Surani, Chong-Jian Chen, Edith Heard
The long noncoding RNA Xist is expressed from only the paternal X chromosome in mouse preimplantation female embryos and mediates transcriptional silencing of that chromosome. In females, absence of Xist leads to postimplantation lethality. Here, through single-cell RNA sequencing of early preimplantation mouse embryos, we found that the initiation of imprinted X-chromosome inactivation absolutely requires Xist. Lack of paternal Xist leads to genome-wide transcriptional misregulation in the early blastocyst and to failure to activate the extraembryonic pathway that is essential for postimplantation development...
January 30, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28130394/application-of-microfluidic-technologies-to-human-assisted-reproduction
#9
REVIEW
Gary D Smith, Shuichi Takayama
Microfluidics can be considered both a science and a technology. It is defined as the study of fluid behavior at a sub-microliter level and the investigation into its application to cell biology, chemistry, genetics, molecular biology and medicine. There are at least two characteristics of microfluidics, mechanical and biochemical, which can be influential in the field of mammalian gamete and preimplantation embryo biology. These microfluidic characteristics can assist in basic biological studies on sperm, oocyte and preimplantation embryo structure, function and environment...
January 27, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28129970/counselling-considerations-for-chromosomal-mosaicism-detected-by-preimplantation-genetic-screening
#10
Andria G Besser, Emily L Mounts
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos...
January 16, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#11
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28113212/automation-and-optimization-of-multi-pulse-laser-zona-drilling-of-mouse-embryos-during-embryo-biopsy
#12
Christopher Yee Wong, James K Mills
: Laser zona drilling (LZD) is a required step in many embryonic surgical procedures, for example assisted hatching and preimplantation genetic diagnosis. LZD involves the ablation of the zona pellucida (ZP) using a laser while minimizing potentially harmful thermal effects to critical internal cell structures. OBJECTIVE: Develop a method for the automation and optimization of multi-pulse LZD, applied to cleavage-stage embryos. METHODS: A two-stage optimization is used...
May 19, 2016: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28100115/paternal-age-is-not-associated-with-pregnancy-outcomes-after-single-thawed-euploid-blastocyst-transfer
#13
Ashley W Tiegs, Nidhee M Sachdev, Jamie A Grifo, David H McCulloh, Frederick Licciardi
Although controversial, increasing paternal age has been shown to negatively affect assisted reproductive technology (ART) outcomes and success rates. Most studies investigating the effect of paternal age on ART outcomes use a donor oocyte model to minimize maternal aneuploidy contribution. This study sought to determine whether increasing paternal age is associated with adverse in vitro fertilization (IVF) outcomes when aneuploidy is minimized using preimplantation genetic screening. There were 573 single thawed euploid embryo transfers from 473 patients undergoing oocyte donor and autologous IVF cycles...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28099679/clinical-outcomes-for-couples-containing-a-reciprocal-chromosome-translocation-carrier-without-preimplantation-genetic-diagnosis
#14
Biao Yin, Yuanchang Zhu, Tonghua Wu, Shuqiu Shen, Yong Zeng, Desheng Liang
OBJECTIVE: To evaluate the pregnancy outcomes of couples containing a carrier of a reciprocal chromosome translocation (RCT) after assisted reproductive technology without preimplantation genetic diagnosis. METHODS: A retrospective study was performed using data for couples with an RCT carrier and control couples with a normal karyotype (1:4 ratio) who underwent assisted reproductive technology cycles at a Chinese fertility center in 2010-2011. The embryos were fertilized via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI)...
November 15, 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#15
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28070710/the-accumulation-of-vitrified-oocytes-is-a-strategy-to-increase-the-number-of-euploid-available-blastocysts-for-transfer-after-preimplantation-genetic-testing
#16
Sandrine Chamayou, Maria Sicali, Carmelita Alecci, Carmen Ragolia, Annalisa Liprino, Daniela Nibali, Giorgia Storaci, Antonietta Cardea, Antonino Guglielmino
PURPOSE: In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together with previously accumulated vitrified oocytes. METHODS: Sixty-nine patients with normal ovarian reserve underwent PGD-A for repeated implantation failure or recurrent pregnancy loss indication...
January 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28069174/management-and-counseling-of-the-male-with-advanced-paternal-age
#17
REVIEW
Michael O Jennings, Ryan C Owen, David Keefe, Edward D Kim
Increasing percentages of children are being born to older fathers. This has resulted in concerns about the potential adverse effects of advanced paternal age. To help clinicians counsel couples, a systemic review was performed to attempt to address questions that these couples may ask: Should routine sperm testing be performed in older males? Should preimplantation genetic diagnosis (PGD) be performed? How do providers counsel patients about risk? Should young males freeze sperm if they plan to delay paternity? Using the terms "advanced paternal age", "semen testing", "preimplantation genetic diagnosis/screening", and "cryopreservation", a comprehensive search was performed in PubMed and the Cochrane Library, and numerous international societal guidelines were reviewed...
February 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28040093/diagnosis-and-clinical-management-of-duplications-and-deletions
#18
REVIEW
Antonio Capalbo, Laura Rienzi, Filippo Maria Ubaldi
Chromosome deletions and duplications-copy number variations (CNVs)-are a major contribution to the genome variability and can be either pathogenic or not. A particular class, the microdeletions and microduplications, which alter <5 Mb, have been extensively associated with developmental delay and intellectual disability. Although their prevalence in pregnancies and newborn is relatively low, their estimates in preimplantation embryos are poorly defined. The introduction of novel technologies for preimplantation genetic diagnosis of aneuploidies (PGD-A) caused new possibilities and challenges associated with diagnosis of subchromosomal CNVs...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28007790/the-effect-of-expressive-writing-intervention-for-infertile-couples-a-randomized-controlled-trial
#19
Yoon Frederiksen, Mia Skytte O'Toole, Mimi Y Mehlsen, Benedicte Hauge, Helle Olesen Elbaek, Robert Zachariae, Hans Jakob Ingerslev
STUDY QUESTION: Is expressive writing intervention (EWI) efficacious in reducing distress and improving pregnancy rates for couples going through ART treatment? SUMMARY ANSWER: Compared to controls, EWI statistically significantly reduced depressive symptoms but not anxiety and infertility-related distress. WHAT IS KNOWN ALREADY: ART treatment is considered stressful. So far, various psychological interventions have been tested for their potential in reducing infertility-related distress and the results are generally positive...
December 21, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27989225/-unaffected-child-born-following-preimplantation-genetic-diagnosis-with-karyomapping
#20
László Nánássy, Gyöngyvér Téglás, Marianna Csenki, Attila Vereczkey
Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days...
December 2016: Orvosi Hetilap
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