PRENATAL DIAGNOSIS TRIALS--FETAL CELLS/MATERNAL BLOOD

该项目是项目的第二阶段，其主要目标是 开发一种非侵入性、安全、相对便宜和准确的 遗传性疾病的产前诊断技术，可以 在怀孕的前三个月进行。第二阶段将测试、扩展和 完善在第一阶段制定的方法。这项研究将包括 对分离和分离过程中涉及的变量进行系统评估 通过流式细胞仪或其他方法从母血中富集胎儿细胞 方法，包括磁激活细胞分选(MACS)，然后是 用染色体特异性DNA探针进行原位杂交。结果是 这些外周血液研究将与那些将被 从羊膜穿刺术或绒毛取样(CVS)中获得 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是否有任何非生物影响 测试。即使与生殖遗传相关的生物风险 技术减少了，存在着其他潜在的可能性 风险(或收益)与程序有关。其中一些 因素可能是：增加或减少母亲的焦虑，增加 对怀孕的适应或不适应，增加了对 在有可以忽略的生物因素的情况下强迫进行产前检测 与手术相关的风险，以及增加或减少舒适度 与生殖决策有关。

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.