PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD

产前诊断试验——胎儿细胞/母血

• 批准号: 2758637
• 负责人: Laird G. Jackson
• 金额: $ 36.98万
• 依托单位: THOMAS JEFFERSON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-03-25 至 1999-03-24
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2758637
• 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 (NACS), 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.

该项目是一个项目的第二阶段，其主要目标是 开发一种非侵入性的，安全的，相对便宜的和准确的 遗传性疾病的产前诊断技术， 在怀孕的前三个月进行。 第二阶段将测试、扩大和 完善第一阶段制定的方法。 研究工作包括 系统评价涉及分离的变量， 通过流式细胞术或其他方法从母体血液中富集胎儿细胞 方法，包括磁激活细胞分选（NACS），然后 染色体特异性DNA探针原位杂交。 结果 这些外周血研究将与那些将 从胎盘穿刺或绒毛膜绒毛取样（CVS）获得， 同样的女人 该项目的另一个目标是确定是否有 对接受产前诊断的妇女的任何非生物学影响 试验. 即使与生殖遗传相关的生物风险 技术减少，存在其他潜在的可能性， 风险（或收益）与手术相关。 其中一些 因素可能是：扩大或减少母亲的焦虑，增加 对怀孕的适应或不适应， 强迫进行产前检查，而生物学上的 与手术相关的风险，以及舒适度的增加或降低 生殖决策。