Comprehensive non-invasive prenatal diagnostics

该项目的目的是扩大目前针对某些染色体异常的非侵入性产前筛查程序，将新出现的非侵入性诊断技术战略结合起来，为孕妇提供比目前更全面的服务。通过改进目前评估在前三个月后期和中三个月期间母体循环中发现的胎儿细胞的方法，保护携带染色体正常胎儿的妇女免受侵入性手术（例如，穿刺术，绒毛取样）可能成为一个新的护理标准。该项目的成功将取决于提高目前的效率，即在母体循环中富集有限数量的胎儿细胞（当它们存在时），确定胎儿细胞的身份，而不管胎儿的性别，应用快速染色体鉴定技术，并将结果与结合联合收割机血液化学和超声分析的筛选程序相结合。这些实验室程序将与完整的遗传咨询服务相结合。最初，这些服务将在美国的一个大都市地区提供，然后通过直接可用性或创建服务提供商网络进行扩展。将筛查程序扩展到包括胎儿细胞诊断技术，将作为一个长期目标的基础，即利用非侵入性程序为妇女和夫妇提供完整的基因诊断， 最大限度地应用人类基因组的新知识，同时消除 诊断技术的程序风险。

The purpose of the project is to expand upon current non-invasive prenatal screening procedures for selected chromosome anomalies by integrating emerging strategies for non-invasive diagnostic techniques to create a more comprehensive service than is currently available to pregnant women. By improving upon current approaches to assessing fetal cells found in maternal circulation during late first trimester and second trimester, the goal of protecting women carrying chromosomally normal fetuses from pregnancy loss by invasive procedures (e.g., amniocentesis, chroionic villus sampling) may become a new standard of care. The success of the project will rest on improving upon the current efficiencies of enriching a limited number of fetal cells in maternal circulation when they are present, establishing the identity of a cell as fetal, regardless of the sex of the fetus, applying rapid chromosome identification techniques, and integrating the findings with screening procedures that combine blood chemistries and ultrasound analyses. These laboratory procedures will be integrated with comoplete genetic counseling services. Initially, these services will be provided in a single metropolitan region of the U.S. and then scaled for expansion through direct availability or the creation of a network of service provdiers. The extension of screening procedures to include fetal cell diagnostic techniques will serve as the basis for a longer term objective of providing women and couples with complete genetic diagnoses using non-invasive procedures to maximize the application of emerging knowledge of the human genome while eliminating procedural risks of the diagnostic techniques.