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.
Thesaurus Terms: chromosome disorder, diagnosis procedure safety, genetic screening, method development, noninvasive diagnosis, prenatal diagnosis cell sorting, embryo /fetus death, genetic counseling, genetic mapping, immunologic technique, mother /infant health care, pregnancy circulation clinical research, fluorescent in situ hybridization, human pregnant subject, women's health
