Relevant bibliographies by topics / Preimplantation genetic diagnosis

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Preimplantation genetic diagnosis'

Author: Grafiati
Published: 4 June 2021
Last updated: 26 February 2023

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Journal articles on the topic "Preimplantation genetic diagnosis"

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Sullivan-Pyke, Chantae, and Anuja Dokras. "Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis." Obstetrics and Gynecology Clinics of North America 45, no. 1 (March 2018): 113–25. http://dx.doi.org/10.1016/j.ogc.2017.10.009.

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Shapiro, L. R. "Preimplantation Genetic Diagnosis." AAP Grand Rounds 7, no. 6 (June 1, 2002): 70–71. http://dx.doi.org/10.1542/gr.7-6-70.

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Pavelić, Krešimir, and Elitza Markova-Car. "Preimplantation Genetic Diagnosis." Donald School Journal of Ultrasound in Obstetrics and Gynecology 16, no. 1 (April 22, 2022): 79–82. http://dx.doi.org/10.5005/jp-journals-10009-1920.

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Petrou, Mary. "Preimplantation Genetic Diagnosis." Hemoglobin 33, sup1 (January 2009): S7—S13. http://dx.doi.org/10.3109/03630260903344838.

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Kopaczynski, Germain. "Preimplantation Genetic Diagnosis." Ethics & Medics 27, no. 5 (2002): 1–3. http://dx.doi.org/10.5840/em20022759.

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El Tokhy, Omar, Mona Salman, and Tarek El-Toukhy. "Preimplantation genetic diagnosis." Obstetrics, Gynaecology & Reproductive Medicine 31, no. 6 (June 2021): 157–61. http://dx.doi.org/10.1016/j.ogrm.2021.04.003.

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Kim, Jin Young, Hyoung-Song Lee, and Inn Soo Kang. "Preimplantation genetic diagnosis." Journal of the Korean Medical Association 58, no. 11 (2015): 979. http://dx.doi.org/10.5124/jkma.2015.58.11.979.

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BUI, THE-HUNG, and JOYCE C. HARPER. "Preimplantation Genetic Diagnosis." Clinical Obstetrics and Gynecology 45, no. 3 (September 2002): 640–48. http://dx.doi.org/10.1097/00003081-200209000-00007.

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Harper, Joyce C., and Joy D. A. Delhanty. "Preimplantation genetic diagnosis." Current Opinion in Obstetrics and Gynecology 12, no. 2 (April 2000): 67–72. http://dx.doi.org/10.1097/00001703-200004000-00002.

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Munné, Santiago, and Dagan Wells. "Preimplantation genetic diagnosis." Current Opinion in Obstetrics and Gynecology 14, no. 3 (June 2002): 239–44. http://dx.doi.org/10.1097/00001703-200206000-00001.

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Dissertations / Theses on the topic "Preimplantation genetic diagnosis"

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Thakur, Sanjay, and n/a. "The ethics of preimplantation genetic diagnosis." University of Otago. Department of Philosophy, 2006. http://adt.otago.ac.nz./public/adt-NZDU20060816.105106.

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Preimplantation genetic diagnosis is a technique used in the field of assisted reproduction. The technique is applied to embryos that have been created in vitro, in order to facilitate the selection of embryos according to particular genetic parameters. The use of preimplantation genetic diagnosis by prospective parents at high risk for having a child affected by a genetic disorder has facilitated the birth of unaffected children. Preimplantation genetic diagnosis has already been used for other purposes, such as screening for gender, and could in principle be used to screen for a wide range of genetic traits. The aim of this thesis is to provide good answers to the ethical questions provoked by the advent and continuing development of preimplantation genetic diagnosis. The thesis is divided into four parts. Part One provides a brief overview of the science of genetic selection. Part Two is centred on a discussion of two ethical principles. The principle of procreative liberty is based upon the idea that acts of interference in the reproductive lives of others should be avoided unless there is good justification for such acts. The principle of procreative beneficence is based upon the idea that prospective parents should select the child, of the possible children they could have, who is expected to have the best life. I will argue that the principle of procreative liberty should be applied to acts of interference in individuals� freedom to use preimplantation genetic diagnosis, while the principle of procreative beneficence should be applied to acts of selecting children. In Part Three, I will endorse a position that accords embryos a relatively low moral status, reject the arguments of the disability rights critique, argue that the eugenic aspects of preimplantation genetic diagnosis do not warrant much concern, and develop a framework for critically evaluating slippery slope arguments. Finally, in Part Four, specific applications of preimplantation genetic diagnosis will be examined in detail. Although each application raises unique ethical questions, this thesis aims to demonstrate that the consistent application of the principles and preliminary conclusions developed in Parts Two and Three provides the best means for determining how PGD should be used and which uses should be restricted.
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Bickerstaff, Helen. "Preimplantation genetic diagnosis of Huntington disease." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612093.

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Malmgren, Helena. "Patients’ experiences of Preimplantation Genetic Diagnosis (PGD)." Thesis, Uppsala universitet, Institutionen för folkhälso- och vårdvetenskap, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-230901.

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The aim of the present study was to investigate the experiences and attitudes concerningpreimplantation genetic diagnosis (PGD) among the couples that have undergone PGD in Sweden.PGD is an alternative to conventional prenatal diagnosis for couples with a high risk of having a childwith genetic disease. Couples opting for PGD have to perform in vitro fertilisation, generatedembryos are subjected to biopsy and diagnosis, and healthy embryos can be transferred to the femaleuterus. Hopefully a pregnancy will be established. However, PGD is a strategy that implies bothphysical and psychological stress, and it is not obvious that this is an easier alternative than prenataldiagnosis. A questionnaire was sent to 116 couples that had carried out at least one PGD treatmentcycle. The response rate was 89%, thus almost all couples treated in Sweden since the start in 1995was represented. Results: The stress, both psychologically and physically, caused by the PGD treatment was evaluatedsomewhere between “As expected” and “More stressful than expected”. The stress experienced duringthe PGD treatments was not associated with the couples’ previous reproductive experiences. The mostphysical stressful event was the oocyte retrieval and the most psychologically stressful period was“waiting for a possibly/ hopefully embryo transfer”.The majority of couples that had performed prenatal diagnosis on a spontaneous pregnancy andexperienced a PGD treatment reported that PGD was more physically stressful (54%), but that prenataldiagnosis was more psychologically stressful (51%). The couples reported the reproductivealternatives chosen after PGD closure, and couples performing PGD at the present rated futurereproductive alternatives. Results indicated that ocyte- and sperm donations were a less attractivealternative than for example adoption. Participants in the study also had the opportunity to state forwhom /which indications PGD should be an option. Conclusion: The stress associated with performing PGD or prenatal diagnosis is extensive and noneof the alternatives is an obvious choice. PGD was reported as more physical stressful, but prenataldiagnosis was more psychologically stressful. The reproductive pathways chosen after PGD closurewas reported, and surprisingly sperm and oocyte donations were not attractive alternatives. The choiceof reproductive alternatives might be influenced by the information and support provided by thehealthcare personal. Knowledge about the experience of PGD treatments is of great importance forthose that meet these couples for genetic and reproductive counselling, in order to give them propercare and to better meet their demand of information and support.
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Konstantinidis, Michalis. "Preimplantation genetic diagnosis : new methods for the detection of genetic abnormalities in human preimplantation embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:28611f65-7729-4293-9c3f-4fc3f0cc39d7.

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Preimplantation genetic diagnosis (PGD) refers to the testing of embryos produced through in vitro fertilization (IVF) in order to identify those unaffected by a specific genetic disorder or chromosomal abnormality. In this study, different methodologies were examined and developed for performance of PGD. Investigation of various whole genome amplification (WGA) methods identified multiple displacement amplification as a reliable method for genotyping single cells. Furthermore, this technology was shown to be compatible with subsequent analysis using single nucleotide polymorphism (SNP) microarrays. Compared to conventional methods used in this study to perform single cell diagnosis (e.g. multiplex PCR), WGA techniques were found to be advantageous since they streamline the development of PGD protocols for couples at high risk of transmitting an inherited disorder and simultaneously offer the possibility of comprehensive chromosome screening (CCS). This study also aimed to develop a widely applicable protocol for accurate typing of the human leukocyte antigen (HLA) region with the purpose of identifying embryos that will be HLA-identical to an existing sibling affected by a disorder that requires haematopoietic stem cell transplantation. Additionally, a novel microarray platform was developed that, apart from accurate CCS, was capable of reliably determining the relative quantity of mitochondrial DNA in polar bodies removed from oocytes and single cells biopsied from embryos. Mitochondria are known to play an important role in oogenesis and preimplantation embryogenesis and their measurement may therefore be of clinical relevance. Moreover, real-time PCR was used for development of protocols for CCS, DNA fingerprinting of sperm samples and embryos and the relative quantitation of telomere length in embryos (since shortened telomeres might be associated with reduced viability). As well as considering the role of genetics in terms of oocyte and embryo viability assessment and the diagnosis of inherited genetic disorders, attention was given to a specific gene (Phospholipase C zeta) of relevance to male infertility. A novel mutation affecting the function of the resulting protein was discovered highlighting the growing importance of DNA sequence variants in the diagnosis and treatment of infertility.
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Iwarsson, Erik. "Genetic studies in early embryos with emphasis on preimplantation genetic diagnosis /." Stockholm, 2000. http://diss.kib.ki.se/2000/91-628-4112-2/.

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Ménétrey, Frédéric. "Multiple preimplantation genetic diagnosis and analysis of bovine embryos /." Zürich : ETH, 2007. http://e-collection.ethbib.ethz.ch/show?type=diss&nr=16581.

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Hedberg, Rickard. "Preimplantation genetic diagnosis and therapy in humans- Opportunities and risks." Thesis, Örebro universitet, Institutionen för medicinska vetenskaper, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-81532.

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IntroductionPreimplantation Genetic Diagnosis (PGD) was developed in the 1990s and has been used since to diagnose and discard embryos with genetic conditions or chromosomal abnormalities. CRISPR-Cas9 was discovered in 2012 and has been used in research, but has not become clinical practice on humans yet. CRISPR-Cas9 could potentially be applied to treat and prevent genetic disorders.AimThe aim was to investigate the ethical dilemmas of each method through a set of research questions. The ethics of applying PGD according to Swedish guidelines and applying CRISPR-Cas9 on humans was investigated.MethodologyThis was not a systematic literature review. Instead, articles have been selected based on their explanation of each method and uniqueness or volume of ethical arguments surrounding each method, that is of relevance for the discussed issues.ResultsArguments in favour of PGD addressed among other things the somatic and psychological health of future children and parents along with the economical benefits. Arguments against PGD addressed different dilemmas of discarding an embryo and thereby a future individual. Arguments against CRISPR-Cas9 addressed technical limitations, our limited knowledge of genetics and more. Arguments in favour addressed benefits in clinical medicine and research.ConclusionsPGD according to Swedish guidelines was found to be ethically acceptable, since its restrictive use that have not given room for ethically dubious applications. CRISPR-Cas9 was found not to be safe enough for human applications at this moment due to technical limitations. If these were to be solved, caution and restraint must be urged.
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Parfenchyk, Volha <1984&gt. "Contesting Rights: Bioconstitutionalism and the Debate on Preimplantation Genetic Diagnosis in Italy." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amsdottorato.unibo.it/8252/1/PARFENCHYK_VOLHA_tesi.pdf.

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The main objective of this work is to explore how constitutional rights figure in social controversies around new biomedical technologies and to highlight the possible advantages, problems and difficulties that the use of rights as benchmarks for their regulation involves. It does so by drawing on the concept of bioconstitutionalism. To address this issue, this work is mainly based on a case study: the exploration of a social controversy around a technology known as preimplantation genetic diagnosis (PGD) in Italy. Exploring the different roles that rights have played in the Italian controversy, as well as the different ways in which they have been used, appealed to, shaped, and implemented, this work thus seeks to contribute to exploring the problems of using rights in social controversies around new biomedical technologies.
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Jiang, Sheng. "Application of nested PCR, whole genome amplification and comparative genomic hybridisation for single cell genetic analysis." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.366140.

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Raberi, Araz. "Genetic contributory factors to infertility." Thesis, University of Oxford, 2017. https://ora.ox.ac.uk/objects/uuid:4363762b-6c0b-465c-925a-ecc86e772220.

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Introduction: In recent years, the average age of first reproduction has risen significantly, the mean now standing at around 30 years in many countries. The adverse effects of maternal age on fertility and reproduction have been well documented. However, the influence of paternal age on fertility, reproduction and postnatal health is relatively poorly understood, and 50% of all male infertility cases are classed as idiopathic or unexplained infertility. Methods: The aim of this study was to investigate factors that contribute to male infertility, split into two main parts. The first part focused on analysing data collected from patients who had undergone fertility treatment to assess the influence of different factors on infertility, especially at the genome level. The second part attempted to deal with some of the technical challenges of screening and diagnostic methods to study the genome, with the aim of providing tools that would assist future studies in pinpointing genetic factors responsible for infertility, especially in cases of idiopathic infertility. Results: Based on data from the first part of the study, it was determined that advanced paternal age can affect sperm progressive motility, sperm DNA integrity and the fertilisation rate of in vitro fertilisation (IVF) cycles, as well as the development of embryos. Direct analysis of sperm DNA fragmentation (SDF) and degradation levels revealed an association between elevated SDF and impaired embryo development. Furthermore, a correlation was shown between chromosome aneuploidy and variance in SDF and sperm DNA degradation. Moreover, aneuploidy can influence abnormal sperm morphology and consequently also progressive motility. Also, embryo development rate of IVF cycles on day three, demonstrated a significant decline in cycles where the sperm used for fertilisation had a high aneuploidy rate, which can highlight the reduced developmental capacity of aneuploid embryos. From the lifestyle factors assessed, only alcohol consumption significantly correlated with the sperm DNA damage. Therefore, poor semen quality may highlight damage that has been incurred by the sperm DNA. When the semen quality is suboptimal, the intracytoplasmic sperm injection (ICSI) technique is suggested as a standard strategy to improve the prognosis of ART. However, when the progressive motility is poor, the ICSI approach is not as effective. Based on our findings and in line with other studies, the only sperm parameter that can be affected by paternal age is sperm motility, which could be an indicator of SDF. Therefore, the decline in ICSI fertilisation rate in patients with impaired sperm progressive motility could be due to sperm DNA damage, and even ICSI cannot improve the fertilisation rate considerably. Discussion: The aim of the second part of this project was to establish a robust workflow for whole- genome amplification (WGA) and whole-genome sequencing of single cells to improve the coverage rate and fidelity, with the aim of providing means of detecting any mutation in the genome that might be responsible for reduced embryonic developmental competence. Towards this end, the efficiencies of two different WGA protocols (REPLI-g and TruePrime) were compared. Multiple technical factors required optimisation in order to create a suitable protocol. Our results demonstrated the overall superiority of REPLI-g compared to TruePrime in almost all the assessed parameters. The amplification rate of REPLI-g was much faster than that of TruePrime, and prolonged incubation led to overamplification and an increased duplication rate. However, the TruePrime method has a slower amplification rate and therefore, by increasing the incubation time, it was possible to improve the quality of the data. The modified protocol with reduced volume also had the most promising outcome in terms of the data produced, and could fulfil our expectations by being fast, cost-effective and efficient. Conclusion: In conclusion, the results from the first part of this study confirmed the negative impact of male age on assisted reproductive treatments, which can result in decreased success rates of fertilisation. Other factors such as sperm DNA damage may also contribute to this age effect, suggesting that assessing this parameter prior to fertility treatment, and attempting to mitigate elevated levels of sperm DNA damage, may be of value to older patients. Additionally, overcoming the technical challenges in studying genetic contributory factors in infertility is a promising step toward better understanding of the mutations and variations that are involved in this phenomenon.
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Books on the topic "Preimplantation genetic diagnosis"

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C, Harper Joyce, ed. Preimplantation genetic diagnosis. 2nd ed. Cambridge [UK]: Cambridge University Press, 2009.

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Harper, Joyce, ed. Preimplantation Genetic Diagnosis. Cambridge: Cambridge University Press, 2009. http://dx.doi.org/10.1017/cbo9780511581571.

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Harper, Joyce C., Joy D. A. Delhanty, and Alan H. Handyside, eds. Preimplantation Genetic Diagnosis. Chichester, UK: John Wiley & Sons, Ltd, 2001. http://dx.doi.org/10.1002/0470846615.

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Harper, Joyce C., Joy D. A. Delhanty, and Alan H. Handyside, eds. Preimplantation Genetic Diagnosis. Chichester, UK: John Wiley & Sons, Ltd, 2001. http://dx.doi.org/10.1002/0470846615.

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Kuliev, Anver. Practical Preimplantation Genetic Diagnosis. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-4090-0.

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Anver, Kuliev, ed. Atlas of preimplantation genetic diagnosis. 2nd ed. London: Taylor & Francis, 2005.

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International Symposium on Preimplantation Genetics (1st 1990 Chicago, Ill.). Preimplantation genetics. New York: Plenum Press, 1991.

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El-Toukhy, Tarek, and Peter Braude, eds. Preimplantation Genetic Diagnosis in Clinical Practice. London: Springer London, 2014. http://dx.doi.org/10.1007/978-1-4471-2948-6.

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Bayefsky, Michelle, and Bruce Jennings. Regulating Preimplantation Genetic Diagnosis in the United States. New York: Palgrave Macmillan US, 2015. http://dx.doi.org/10.1057/9781137515445.

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Diekämper, Julia. Reproduziertes Leben: Biomacht in Zeiten der Präimplantationsdiagnostik. Bielefeld: Transcript, 2011.

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Book chapters on the topic "Preimplantation genetic diagnosis"

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Kuliev, Anver, and Svetlana Rechitsky. "Preimplantation Genetic Diagnosis." In Genetic Disorders and the Fetus, 419–52. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2015. http://dx.doi.org/10.1002/9781118981559.ch10.

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Lalioti, Maria D. "Preimplantation Genetic Diagnosis." In Infertility, 155–63. Oxford, UK: Wiley-Blackwell, 2011. http://dx.doi.org/10.1002/9781444393958.ch16.

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Verlinsky, Yury, and Anver Kuliev. "Preimplantation Genetic Diagnosis." In Genetic Disorders and the Fetus, 950–77. Oxford, UK: Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444314342.ch29.

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Tsafrir, Avi, Yoel Shufaro, Alex Simon, and Neri Laufer. "Preimplantation Genetic Diagnosis." In The Embryo: Scientific Discovery and Medical Ethics, 166–201. Basel: KARGER, 2004. http://dx.doi.org/10.1159/000082225.

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Brambati, Bruno, and Leonardo Formigli. "Uterine Lavage for Preimplantation Genetic Diagnosis." In Preimplantation Genetics, 165–74. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-1351-9_18.

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Repping, Sjoerd, Sebastiaan Mastenbroek, and Paul N. Scriven. "Preimplantation Genetic Screening." In Preimplantation Genetic Diagnosis in Clinical Practice, 175–85. London: Springer London, 2013. http://dx.doi.org/10.1007/978-1-4471-2948-6_16.

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Kuliev, Anver. "Approaches to Preimplantation Diagnosis." In Practical Preimplantation Genetic Diagnosis, 11–43. London: Springer London, 2012. http://dx.doi.org/10.1007/978-1-4471-4090-0_2.

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Braude, Peter. "Preimplantation Diagnosis of Genetic Disease Using Enzyme Assays." In Preimplantation Genetics, 113–19. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-1351-9_12.

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Robertson, John. "Legal and Ethical Issues in Preimplantation Genetic Diagnosis." In Preimplantation Genetics, 253–69. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-1351-9_27.

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Liu, Chengcheng, Xiaoting Lou, Jianxin Lyu, Jian Wang, and Yufei Xu. "Prenatal Diagnosis and Preimplantation Genetic Diagnosis." In Clinical Molecular Diagnostics, 769–800. Singapore: Springer Singapore, 2021. http://dx.doi.org/10.1007/978-981-16-1037-0_43.

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Conference papers on the topic "Preimplantation genetic diagnosis"

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Alsynbayeva, Elvira. "PROBLEMS OF LEGAL REGULATION OF PREIMPLANTATION AND PRENATAL GENETIC DIAGNOSIS IN THE RUSSIAN FEDERATION." In MODERN PROBLEMS AND PROSPECTS OF DEVELOPMENT PRIVATE LAW AND PUBLIC LAW REGULATION. Baskir State University, 2022. http://dx.doi.org/10.33184/spprchppr-2022-04-22.4.

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Litton, JK, CJ Etzel, MA Jackson, KI Muse, D. Turco, LR Schover, RL Theriault, et al. "P2-13-05: Breast Cancer, BRCA Mutations and Attitudes Regarding Pregnancy and Preimplantation Genetic Diagnosis." In Abstracts: Thirty-Fourth Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 6‐10, 2011; San Antonio, TX. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/0008-5472.sabcs11-p2-13-05.

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Putra, Novitrian Eka. "Preimplantation Genetics Diagnosis: Ethical and Legal Aspects." In International Conference on Law, Economics and Health (ICLEH 2020). Paris, France: Atlantis Press, 2020. http://dx.doi.org/10.2991/aebmr.k.200513.102.

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Reports on the topic "Preimplantation genetic diagnosis"

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Colls, P., L. Silver, G. Olivera, J. Weier, T. Escudero, N. Goodall, G. Tomkin, and S. Munne. Preimplantation genetic diagnosis for gender selection in the United States. Office of Scientific and Technical Information (OSTI), August 2009. http://dx.doi.org/10.2172/983213.

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Zhenni, Mu, Le Lei, Shen Sinan, and Tang Li. Effectiveness of integrated Chinese herbal medicine Shoutai Pill and Western medicine in the treatment of recurrent pregnancy loss: A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, October 2021. http://dx.doi.org/10.37766/inplasy2021.10.0062.

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Review question / Objective: We provide a protocol to evaluate the efficacy of integrated Shoutai Pill and Western medicine to update the evaluation for the best available and security treatment for recurrent pregnancy loss(RPL). Condition being studied: Recurrent pregnancy loss (RPL) is a distinct disorder defined by two or more consecutive pregnancy failures before 20 gestational weeks infertile couples. The incidence of this disease accounts for about 1%-5% of women of reproductive age and seriously affects their physical and psychological health. At present, the known etiology of this disease mainly includes abnormal anatomic structures, genetic abnormality, endocrine disorders, prethrombotic status, abnormal immune function, infection, etc. Excluding the above factors, approximately 40-50% of RPL remain unexplained, known as unexplained recurrent pregnancy loss (URPL). At present, the main therapeutic methods of RPL are surgical therapy, preimplantation genetic diagnosis (PGD), hormone therapy, anti-infection therapy, anticoagulation, and immunoregulatory therapy, etc. However, there is no effective treatment has been identified for URPL. Therefore, we still need to investigate effective treatments to reduce pregnancy losses and maintain successful pregnancy preservation in these patients.
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