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Preimplantation genetic

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https://www.readbyqxmd.com/read/27907920/aneuploidy-detection-and-mtdna-quantification-in-bovine-embryos-with-different-cleavage-onset-using-a-next-generation-sequencing-based-protocol
#1
Miroslav Hornak, David Kubicek, Petr Broz, Pavlina Hulinska, Katerina Hanzalova, Darren Griffin, Marie Machatkova, Jiri Rubes
Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes...
December 2, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#2
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27882769/-current-issues-of-reproductive-medicine-in-the-czech-republic
#3
P Ventruba, J Žáková, M Ješeta, D Rumpík, M Brandejská, I Crha, D Hlinka, L Jelínková, E Oráčová, J Pavelková, K Řežábek, K Veselá
INTRODUCTION: During the 25th symposium of assisted reproduction in Brno was lunch time organised as the lunch table discussion on the selected topics of assisted reproduction. More than 150 specialists reviewed themes related to gynecology and embryology.Discussed topics: Lunch table discussion covered the following topics: (1) Cross-border health care in assisted reproduction; (2) Indication for PGS (preimplantation genetic screening) in the context of actual information; (3) Does ovarian stimulation belong to the ambulance of registering gynecologists? (4) Therapy with clomifen - only for IVF specialists? (5) How and with whom should psychological support be directed during IVF? (6) Stimulation in women with low ovarian reserve; (7) Is basic semen analyses sufficient? (8) Time-lapse systems as relevant markers of embryonic development; (9) How to be oriented with choices of media and consumables in the IVF lab, and (10) "Freeze All" - is this new trend in cryopreservation suitable for all? CONCLUSIONS: Panel conclusions were presented during the afternoon session, which had great attendance, featured lively commentary, and produced some definitive consensus...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#4
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27858211/factors-influencing-the-decision-making-process-and-long-term-interpersonal-outcomes-for-parents-who-undergo-preimplantation-genetic-diagnosis-for-fanconi-anemia-a-qualitative-investigation
#5
K Haude, P McCarthy Veach, B LeRoy, H Zierhut
Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents' experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes...
November 17, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27855520/novel-technologies-emerging-for-preimplantation-genetic-diagnosis-and-preimplantation-genetic-testing-for-aneuploidy
#6
Karen Sermon
Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer...
December 1, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27853913/differences-in-pregnancy-outcomes-in-donor-egg-frozen-embryo-transfer-fet-cycles-following-preimplantation-genetic-screening-pgs-a-single-center-retrospective-study
#7
Alison Coates, Brandon J Bankowski, Allen Kung, Darren K Griffin, Santiago Munne
PURPOSE: This study aims to test the hypothesis, in a single-center retrospective analysis, that live birth rates are significantly different when utilizing preimplantation genetic screening (PGS) compared to not utilizing PGS in frozen-thawed embryo transfers in our patients that use eggs from young, anonymous donors. The question therefore arises of whether PGS is an appropriate intervention for donor egg cycles. METHODS: Live birth rates per cycle and live birth rates per embryo transferred after 398 frozen embryo transfer (FET) cycles were examined from patients who elected to have PGS compared to those who did not...
November 16, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27853269/unraveling-the-association-between-genetic-integrity-and-metabolic-activity-in-pre-implantation-stage-embryos
#8
Fiona D'Souza, Shivanand M Pudakalakatti, Shubhashree Uppangala, Sachin Honguntikar, Sujith Raj Salian, Guruprasad Kalthur, Renu Pasricha, Divya Appajigowda, Hanudatta S Atreya, Satish Kumar Adiga
Early development of certain mammalian embryos is protected by complex checkpoint systems to maintain the genomic integrity. Several metabolic pathways are modulated in response to genetic insults in mammalian cells. The present study investigated the relationship between the genetic integrity, embryo metabolites and developmental competence in preimplantation stage mouse embryos with the aim to identify early biomarkers which can predict embryonic genetic integrity using spent medium profiling by NMR spectroscopy...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27852683/potential-of-human-twin-embryos-generated-by-embryo-splitting-in-assisted-reproduction-and-research
#9
REVIEW
Laila Noli, Caroline Ogilvie, Yacoub Khalaf, Dusko Ilic
BACKGROUND: Embryo splitting or twinning has been widely used in veterinary medicine over 20 years to generate monozygotic twins with desirable genetic characteristics. The first human embryo splitting, reported in 1993, triggered fierce ethical debate on human embryo cloning. Since Dolly the sheep was born in 1997, the international community has acknowledged the complexity of the moral arguments related to this research and has expressed concerns about the potential for reproductive cloning in humans...
November 16, 2016: Human Reproduction Update
https://www.readbyqxmd.com/read/27842993/diagnosis-and-clinical-management-of-embryonic-mosaicism
#10
REVIEW
Nidhee M Sachdev, Susan M Maxwell, Andria G Besser, James A Grifo
Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births. Mosaic embryos may represent a third category between normal (euploidy) and abnormal (aneuploidy). This category of mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes...
November 11, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27833086/comparative-study-of-single-nucleotide-polymorphism-array-and-next-generation-sequencing-based-strategies-on-triploid-identification-in-preimplantation-genetic-diagnosis-and-screen
#11
Jiawei Xu, Wenbin Niu, Zhaofeng Peng, Xiao Bao, Meixiang Zhang, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27822654/number-of-blastocysts-biopsied-as-a-predictive-indicator-to-obtain-at-least-one-normal-balanced-embryo-following-preimplantation-genetic-diagnosis-with-single-nucleotide-polymorphism-microarray-in-translocation-cases
#12
Yi-Zi Wang, Chen-Hui Ding, Jing Wang, Yan-Hong Zeng, Wen Zhou, Rong Li, Can-Quan Zhou, Ming-Fen Deng, Yan-Wen Xu
PURPOSE: The aim of this study is to investigate the minimum number of blastocysts for biopsy to increase the likelihood of obtaining at least one normal/balanced embryo in preimplantation genetic diagnosis (PGD) for translocation carriers. METHODS: This blinded retrospective study included 55 PGD cycles for Robertsonian translocation (RT) and 181 cycles for reciprocal translocation (rcp) to indicate when only one of the couples carried a translocation. Single-nucleotide polymorphism microarray after trophectoderm biopsy was performed...
November 7, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27816233/detection-of-segmental-aneuploidy-and-mosaicism-in-the-human-preimplantation-embryo-technical-considerations-and-limitations
#13
REVIEW
Nathan R Treff, Jason M Franasiak
Whole-chromosome aneuploidy screening has become a common practice to improve outcomes and decrease embryonic transfer order in patients undergoing treatment for infertility through in vitro fertilization. Despite implementation of this powerful technology, a significant percentage of euploid embryos fail to result in successful deliveries. As technology has evolved, detection of subchromosomal imbalances and embryonic mosaicism has become possible, and these serve as potential explanations for euploid embryo transfer failures...
November 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27816230/type-of-chromosome-abnormality-affects-embryo-morphology-dynamics
#14
Maria Del Carmen Nogales, Fernando Bronet, Natalia Basile, Eva María Martínez, Alberto Liñán, Lorena Rodrigo, Marcos Meseguer
OBJECTIVE: To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. DESIGN: Retrospective cohort study. SETTING: University affiliated private center. PATIENT(S): Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage...
November 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#15
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
November 4, 2016: Journal of Assisted Reproduction and Genetics
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
#16
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/27796678/reproductive-decision-making-in-women-with-brca1-2-mutations
#17
Jessica L Chan, Lauren N C Johnson, Mary D Sammel, Laura DiGiovanni, Chan Voong, Susan M Domchek, Clarisa R Gracia
Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer...
October 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27793378/translocations-inversions-and-other-chromosome-rearrangements
#18
REVIEW
Scott J Morin, Jennifer Eccles, Amanda Iturriaga, Rebekah S Zimmerman
Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27793373/preimplantation-genetic-diagnosis-for-chromosomal-rearrangements-with-the-use-of-array-comparative-genomic-hybridization-at-the-blastocyst-stage
#19
Christodoulos Christodoulou, Annelies Dheedene, Björn Heindryckx, Filip van Nieuwerburgh, Dieter Deforce, Petra De Sutter, Björn Menten, Etienne Van den Abbeel
OBJECTIVE: To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. DESIGN: Retrospective data analysis study. SETTING: Academic centers for reproductive medicine and genetics. PATIENT(S): Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015...
October 25, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27768068/laser-assisted-cytoplasmic-microinjection-in-livestock-zygotes
#20
Yanina S Bogliotti, Marcela Vilarino, Pablo J Ross
Cytoplasmic microinjection into one-cell embryos is a very powerful technique. As an example, it enables the delivery of genome editing tools that can create genetic modifications that will be present in every cell of an adult organism. It can also be used to deliver siRNA, mRNAs or blocking antibodies to study gene function in preimplantation embryos. The conventional technique for microinjecting embryos used in rodents consists of a very thin micropipette that directly penetrates the plasma membrane when advanced into the embryo...
October 5, 2016: Journal of Visualized Experiments: JoVE
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