胚胎植入前遗传学诊断的研究进展

胚胎植入前遗传学诊断(preimplantafion genetic diagonosis，PGD)，又称为孕前诊断。体外受精(in vitro feailization，IVF)的问世是开展PGD的必需前提，是在胚胎植入母体前完成的遗传学诊断。与其它诊断技术相比，它不需要通过人工流产来选择胚胎，避免了人流对夫妇造成精神和肉体的损伤，特别适用于有高风险生育遗传病患儿的夫妇，而且在伦     

植入前遗传学诊断技术研究的新进展

近二十余年来人类对自身生殖过程的认识有了巨大的进步.而同期发展起来的辅助生殖技术与分子遗传学技术的有机结合,使人们能够在种植之前的早期胚胎中取出部分细胞检测疾病,从而筛选出正常胚胎进行宫腔内移植,即植入前遗传学诊断(preimplantation genetic diagnosis,PGD).     

胚胎植入前遗传学诊断的进展

植入前遗传学诊断(preimplantation genetic diagnosis，PGD)是指利用聚合酶链式反应技术(Ploymerase Chain Reaction．PCR)和荧光原位杂交技术(Fluorescence in situ hybridization，FISH)对植入前胚胎进行遗传物质的分析。诊断该胚胎是否携带致病基因，并将健康的胚胎移入母体继续发育。广义上说,PGD还包括对配子的诊断和选择。     

先天性异常与优生学

042 1 75　植入前遗传学诊断 /王仁礼∥生殖与避孕 — 2 0 0 4 ,2 4 ( 3) —Ⅰ～Ⅴ植入前遗传学诊断 (PGD)主要是指在显微操作下从体外受精 (IVF)发育至 6～ 8个细胞期的胚胎中 ,活检 1～ 2个卵裂球细胞或直接获取受精前后的极体 ,通过聚合酶链式反应 (PCR)或荧光原位杂交 (FISH) ,进行快速遗传学诊断 ,选择正常胚胎植入宫内 ,从而获得健康胎儿。该文在PGD取材方面介绍了 :( 1 )极体活检 ;( 2 )卵裂球活检 ;( 3)囊胚活检。在PGD诊断方面介绍了 :( 1 )染色体异常 ;( 2 )单基因病 ;( 3)诊断技术 ;( 4 )存在问题与解决办法。还介绍了…     

植入前遗传学诊断的伦理思考

植入前遗传学诊断（Preimplantation Genetic Diagnosis PGD）是以体外受精－胚胎移植技术为基础,结合多学科技术,特别是单细胞DNA分析技术的研究而发展起来的先进技术。在胚胎植入子宫前淘汰遗传异常的胚胎,以达到优生的目的。随着该技术的发展,PGD的应用范围变得更广,相伴而来的是伦理问题,深入思考PGD应用的伦理困境,以期切实地造福人类。     

应用单核苷酸多态性微阵列技术进行胚胎植入前遗传学诊断的价值

胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)克服了常规产前诊断技术因终止异常妊娠带给患者身心痛苦的缺陷,在辅助生殖技术中越来越受到重视。目前,PCR和荧光原位杂交(fluorescence in situ hybridization,FISH)是PGD中广泛应用的方法,但单细胞FISH和PCR存在污染、     

我校医学院附属妇产科医院一项技术获得国家发明专利

浙江大学申报的一项以徐晨明博士和黄荷凤教授为技术发明人的"一种单个卵裂球的染色体制备方法" 国家发明专利近期获得授权.这项基于克隆技术的染色体检测方法,在染色体病的植入前遗传学诊断(PGD)领域有着诱人的应用前景.     

植入前遗传学诊断中的胚胎活检技术应用进展

植入前遗传学诊断(PGD)主要是对体外受精(IVF)后发育到6～8细胞的胚胎，在显微操作系统下活检其中的1～2个卵裂球或对囊胚期胚胎活检其滋养外胚层细胞，应用聚合酶链反应(PCR)或荧光原位杂交(FISH)技术进行快速的遗传学诊断后．选择正常健康的胚胎植入子宫内，从而获得健康的胎儿。PGD是辅助生育技术与分子生物学相结合     

胚胎植入前遗传学诊断的护理体会

目的 分析心理护理对胚胎植入前遗传学诊断临床结局的影响.方法 对2009年6月–2010年8月期间在我中心接受胚胎植入前遗传学诊断治疗的18例患者进行了针对性的心理指导,统计其临床结局.结果 共18例患者行PGD,其中活检17例;结果有1例未检出,5例无可移植胚胎;移植11例有7例获得临床妊娠(63.6%).结论 从护理的角度对PGD患者进行良性干预,对临床结局有积极的影响.     

用荧光原位杂交技术进行染色体异常者胚胎植入前遗传学诊断

目的：初步探索应用荧光原位杂交(FISH)技术为染色体异常患者进行胚胎植入前遗传诊断(PGD)。方法：针对染色体结构异常的种类．分别选择亚端粒探针及着丝粒探针，用荧光原位杂交技术为5例染色体异常患者进行植入前遗传学诊断。结果：5例患者共行7个PGD周期，共获卵134个，活检47个胚胎，FISH分析可供移植胚胎16个，6个移植周期移植其中15个胚胎，获得1例临床妊娠，并经产前诊断验证，已顺利诞生1健康男婴。结论：荧光原位杂交技术能有效地应用于染色体异常者胚胎植入前遗传学诊断。     

An analysis of US fertility centre educational materials suggests that informed consent for preimplantation genetic diagnosis may be inadequate

The use of preimplantation genetic diagnosis (PGD) has expanded both in number and scope over the past 2 decades. Initially carried out to avoid the birth of children with severe genetic disease, PGD is now used for a variety of medical and non-medical purposes. While some human studies have concluded that PGD is safe, animal studies and a recent human study suggest that the embryo biopsy procedure may result in neurological problems for the offspring. Given that the long-term safety of PGD has not been clearly established in humans, this study sought to determine how PGD safety is presented to prospective patients by means of a detailed website analysis. The websites of 262 US fertility centres performing PGD were analysed and comments about safety and risk were catalogued. Results of the analysis demonstrated that 78.2% of centre websites did not mention safety or risk of PGD at all. Of the 21.8% of centres that did contain safety or risk information about PGD, 28.1% included statements highlighting the potential risks, 38.6% presented information touting the procedure as safe and 33.3% included statements highlighting potential risks and the overall safety of the procedure. Thus, 86.6% of PGD-performing centres state that PGD is safe and/or fail to disclose any risks on their websites despite the fact that the impact of the procedure on the long-term health of offspring is unproven. This lack of disclosure suggests that informed consent is inadequate; this study examines numerous factors that are likely to inhibit comprehensive discussions of safety.     

眼科儿童诊疗过程的伦理问题及对策

对儿童诊疗过程中的伦理问题及对策进行探讨,有利于避免及减少这一在我国民事规定中属于无民事行为能力的弱势群体的心理损害.强调尊重他们的知情同意权,防范医源性损伤.     

Informed consent in emergency research. Prehospital thrombolytic therapy for acute myocardial infarction

Can the conscious patient in the midst of a medical emergency provide adequate informed consent for a clinical research protocol? Adequate consent is crucial to the ethical conduct of clinical trials, including those performed in emergency settings. We examine the problem of emergency informed consent. As an illustrative case, we discuss a pilot trial of prehospital thrombolytic therapy for myocardial infarction. Federal regulations for clinical research do not provide clear guidelines on emergency research in the conscious patient. Clinical investigators currently approach emergency consent in four ways: (1) avoid such research, (2) omit the consent process, (3) obtain deferred consent, or (4) obtain customary consent. We suggest a fifth alternative, two-step consent, which permits the conduct of emergency research while protecting the rights of the emergency research subjects. Such a process may serve as an alternative solution for future studies faced with the problem of informed consent in emergencies.     

Informed consent for BRCA1 and BRCA2 testing: what clinicians should know about the process and content

The exploration and understanding of the human genome has begun to alter the nature of health care. Scientific advances have provided tools to predict susceptibility to a number of adult-onset diseases, including cancer. Some of the most powerful lessons learned about both the promise and the threat of hereditary cancer risk assessment have come from the study of the genetic testing process among women and families at risk for breast and ovarian cancer. The complexity of the issues associated with genetic testing for these cancers has raised concerns about the informed consent process. This paper reviews the issues associated with informed consent for genetic testing for breast and ovarian cancer risk. The paper also addresses the risks, benefits, and limitations of genetic testing, as well as confidentiality issues that should be addressed in this process. Included is a discussion of the alternatives available to women and families considering genetic testing.     

On the Ottoman consent documents for medical interventions and the modern concept of informed consent

Information for patients prior to medical intervention is one of the principles of modern medical practice. In this study, we looked at an earlier practice of this principle. Ottoman judges had record books called sicil. One of the categories in sicils was the consent documents called riza senedi, which was a patient-physician contract approved by the courts. These contracts were especially for the protection of physicians from punishment if the patient dies. It is not clear whether patients were informed properly or not. Consent for minors was obtained from parents. However, a situation where an adult does not have the capacity to consent, was not clear in these documents. Any sign of free withdrawal of consent was not found in these records. Due to the legal system of Ottoman State, these contracts were related to Islamic law rather than modern civil law. We aim, in this paper, to present a legal practice, which is possible to consider as an early example of the informed consent practice.     

医疗同意权主体合理性探究

医疗同意权是患者充分了解自己病情诊断以及可供选择的治疗方案信息后,作出接受治疗与否以及选择何种治疗方案的人格权利。患者医疗同意权作为患者的一项重要权利越来越受到关注。在借鉴、吸收学术界研究成果的基础上,对如何更好地维护患者的医疗同意权作了初步探讨。     

知情同意的“元”分析

知情同意是临床医学伦理学和生命伦理研究的一项基本原则。把知情同意分解为知、情、同意三部分,分析了这三者的深刻内涵,探讨了这一原则在实际中所遇到的一些问题,指出知情同意的“元”分析,有利于避免这一原则的误解和滥用以及在实践中的混乱。     

履行知情同意手续 规避医疗矛盾纠纷

在医生对患者进行某些特殊检查、治疗时要求患者或患者家属签署知情同意书,这是医疗活动中极为重要的一环。医院正确而及时履行知情同意手续既是对患者权利的保护,又能够从很大程度上避免许多不必要的医疗纠纷,是构建社会主义和谐医患关系的重要保证。该文以患者知情同意的相关法律,结合临床医疗工作中常见的履行知情同意手续的实际情况进行了具体的阐述。     

医疗知情同意书的医疗告知现状调查及评价

目的 了解目前医院手术、特殊检查、特殊治疗知情同意书的医疗告知现状,评价其合法性与合理性,并提出改进建议.方法 以<侵权责任法>第55条为依据,采用美国医学会建议的医疗告知标准制订评价指标,对2012年2～5月广西区人民医院的270份及北京大学人民医院<医疗知情同意书汇编>中的331份手术、特殊检查、特殊治疗知情同意书的医疗告知内容、知情同意书格式特征进行调查分析.结果 广西区医院及北大医院的手术、特殊检查、特殊治疗知情同意书均存在医疗告知内容不完整和缺项现象;两院对替代医疗方案的告知率均较低,分别为18.52%、4.83%;两院均未告知替代医疗方案的风险、效益以及不接受医疗建议的效益;两院均有部分知情同意书没有告知患者疾病的诊断及拟定医疗方案的性质、目的 ;在拟定医疗方案的效益告知率两院均不足30%;广西区医院对不接受医疗建议的风险的告知率仅为12.22%,北大医院为48.94%,广西区医院有4.44%没有告知拟定医疗方案的风险.北大医院知情同意书的5项格式特征的合格率均高于广西区医院(P均＜0.05).结论 我国现行手术、特殊检查、特殊治疗知情同意书普遍存在告知内容不完整及缺项现象,与当前法律规定及医学伦理原则的要求仍有较大差距,有待进一步完善和改进.