I型白细胞黏附缺陷的着床前胚胎遗传学诊断

来源 :世界核心医学期刊文摘(妇产科学分册) | 被引量 : 0次 | 上传用户:qyc88107
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Objective: To describe the application of preimplantion genetic diagnosis to a carrier couple for leukocyte adhesion deficiency type I disease (LAD- 1), to achieve a healthy pregnancy. Design: Case report. Setting: Reproductive center and university hospital. Patient(s): A couple in which both partners were carriers for LAD- 1; the female partner carried a G400A substitution in exon 4, and the male partner carried a C562T substitution in exon 5 in theCD18 gene. Intervention(s): Day- 3 cleavage- stage biopsy after standard in vitro fertilization (IVF) and genetic analysis of blastomeres for two mutations, along with a marker from chromosome 21. Main Outcome Measure(s): Birth of a child unaffected with LAD- 1. Result(s): Fifteen oocytes were retrieved, of which 10 were fertilized; eight embryos were suitable for embryo biopsy. After genetic analysis, three embryos were found to be unaffected. According to embryo morphology, two embryos were transferred, resulting in the birth of an unaffected child. Conclusion(s): This is the first report of preimplantion genetic diagnosis for LAD- 1. The successful birth of a healthy child provides evidence that for carrier couples of diseases for which traditional prenatal diagnosis and the decision of whether to terminate a pregnancy might not be acceptable, the application of PGD provides an alternative. Objective: To describe the application of preimplantion genetic diagnosis to a carrier couple for leukocyte adhesion deficiency type I disease (LAD-1), to achieve a healthy pregnancy. Design: Case report. Setting: Reproductive center and university hospital. Patient (s) : Female partner carried a G400A substitution in exon 4, and the male partner carried a C562T substitution in exon 5 in the CD18 gene. Intervention (s): Day- 3 cleavage- stage biopsy after standard in vitro fertilization (IVF) and genetic analysis of blastomeres for two mutations, along with a marker from chromosome 21. Main Outcome Measure (s): Birth of a child unaffected with LAD- 1. Result (s): Fifteen After embryo morphology, two embryos were transferred, resulting in the birth of an unaffiliated Conclusion (s): This is the first report of preimplantion genetic diagnosis for LAD- 1. The successful birth of a healthy child may evidence that for carrier couples of diseases for which traditional prenatal diagnosis and the decision of whether to terminate a pregnancy might not be acceptable, the application of PGD provides an alternative.
其他文献
在对水利水电工程的坝基实施灌浆操作时,一般来说,会碰到很多特殊的地层,这就需要在结合实际状况的前提下,使用一些手段来解决该问题,只有这样,才能实现预定的目的。文章主要
利用硅烷偶联剂和钛酸酯偶联剂协同改性凹凸棒石,研究改性凹凸棒石填充三元乙丙橡胶力学性能的变化规律,借助红外光谱以及交联密度和热分析,探讨改性凹凸棒石对复合橡胶的补
开车进海德堡,幽静的林荫道,处处青 砖红瓦。远山绿树葱茏,古堡隐现其中。古 意盎然的老城与青山绿水交相辉映。 海德堡是中世纪德国的贵族聚集地, 文人雅士,觥筹交错。如今,
目的:沐舒坦采用静脉滴注及雾化吸入治疗新生儿肺炎的安全性观察。方法:本次研究对象均从从东莞市凤岗镇凤岗医院2013年6月-2014年6月收治的新生儿肺炎患儿中抽取62例,分为两
新疆伊犁库克苏河水电开发有限公司成立于2009年5月,是中电投新疆能源有限公司的全资子公司,首期注册资本金贰亿元人民币。公司经营范围:中小水电站开发、运行以及电力产品的
2003年秋季在英国伦敦苏富比拍卖公司所举行的“沐文堂”宋瓷珍藏专场拍卖,特别吸引我的注意和兴趣,尤其是那件北宋定窑刻花长颈瓶创下29.6万英镑的定瓷拍卖的历史最高价。本
沙孟海旧居位于杭州龙游路15号,占地面积870平方米,总建筑面积601平方米,其中的沙孟海旧居系一栋德式二层青砖小洋楼,面积350平方米,这里的起居室、书房、卧室、会客室等展厅
针对小儿腹股沟疝的治疗,采用合成材料制作一种“经腹腔自适应外充式小儿疝囊闭合器”装置从腹腔内对其治疗。装置由充填架,自适应伞状支撑条,底层片,定位外拉线和装置固定线
玉树藏族自治州地处青藏高原腹地,平均海拔4000米以上,是中华民族的“母亲河”长江、黄河以及闻名于世的澜沧江的发源地,有着独特的自然景观和民族风情。 Yushu Tibetan Au