PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD

产前诊断试验——胎儿细胞/母血

• 批准号: 6204743
• 负责人: MARK I EVANS
• 金额: --
• 依托单位: WAYNE STATE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-03-15 至 1999-10-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6204743
• 关键词: chromosome aberrations; clinical trials; diagnosis design /evaluation; diagnosis quality /standard; female; flow cytometry; fluorescent dye /probe; genetic disorder diagnosis; human fetus tissue; human pregnant subject; in situ hybridization; noninvasive diagnosis; nucleic acid probes; pregnancy circulation; prenatal diagnosis; psychological tests

This project represents phase II of a project whose main Objective is to develOp a non-invasive, safe, relatively inexpensive and accurate technique for the prenatal diagnosis Of genetic disorders that can be performed during the first trimester. Phase II will test, expand and refine the methodology developed in phase I. The study will include a systematic evaluation of the variables involved in separating and enriching fetal cells from maternal blood through flow cytometry or other methods, including magnetic-activated cell sorting (MACS), followed by in situ hybridization with chromosome-specific DNA probes. The results of these peripheral blood studies will be compared to those that will be obtained from amniocentesis or chorionic villus sampling (CVS) on the same women. Another objective of the project is to determine whether or not there are any non-biological effects on the women undergoing prenatal diagnostic testing. Even if the biologic risks associated with reproductive genetic technologies are reduced, the possibility exists that other potential risks (or benefits) are associated with the procedures. Some of these factors may be: expanded or diminished maternal anxiety, increased adjustment or maladaptation to the pregnancy, increased feelings of coercion to undertake prenatal testing when there are negligible biologic risks associated with the procedure, and increased or decreased comfort with reproductive decision-making.

该项目代表了一个项目的第二阶段，其主要目标是 开发一种非侵入性，安全，相对便宜且准确的 可能是遗传疾病产前诊断的技术 在头孕期进行。 第二阶段将测试，扩展和 完善第1期中开发的方法论 系统评估分离和分离的变量 通过流式细胞术或其他 方法，包括磁激活的细胞分选（MAC），然后是 与染色体特异性DNA探针的原位杂交。 结果 将这些外周血研究与将是 从羊膜穿刺术或绒毛膜绒毛采样（CVS）获得 同一妇女。 该项目的另一个目的是确定是否有 对接受产前诊断的妇女的任何非生物影响 测试。 即使与生殖遗传有关的生物学风险 技术减少了，存在其他潜力的可能性 风险（或福利）与程序有关。 其中一些 因素可能是：扩大或减少孕产妇焦虑，增加 调整或适应怀孕的不适，增加了 当生物学可忽略的生物学时，强制进行产前测试 与程序相关的风险，舒适性增加或减少 与生殖决策。