Abstract: This invention provides methods and compositions useful for identifying and diagnosing rare fetal cells in a mixed cell population such as a maternal blood sample. The methods entail the use of specific nucleic acid probes that hybridize to fetal cell associated RNAs to identify the rare fetal cells or antibodies that bind to polypeptides encoded by the fetal cell associated RNAs for fetal cell detection. The cells detected by the methods of the present invention are useful for diagnosing the fetal cells for a genetic trait of interest, such as trisomy 21. Novel methods for simultaneous screening for fetal cells and diagnosing the fetal cells are also provided. Compositions comprising the fetal cell associated nucleic acids of the invention and their encoded proteins are also provided. The present invention further provides kits useful for practicing the present methods.

Abstract: This invention provides methods and compositions useful for identifying and diagnosing rare fetal cells in a mixed cell population such as a maternal blood sample. The methods entail the use of specific nucleic acid probes that hybridize to fetal cell associated RNAs to identify the rare fetal cells or antibodies that bind to polypeptides encoded by the fetal cell associated RNAs for fetal cell detection. The cells detected by the methods of the present invention are useful for diagnosing the fetal cells for a genetic trait of interest, such as trisomy 21. Novel methods for simultaneous screening for fetal cells and diagnosing the fetal cells are also provided. Compositions comprising the fetal cell associated nucleic acids of the invention and their encoded proteins are also provided. The present invention further provides kits useful for practicing the present methods.