Diagnostic proteomic profiles for aneuploidy. NIH SBIR grant currently active; $99,400. Definitive diagnosis of chromosomal aneuploidies currently follows a two-step process: maternal screening and, if the results are positive, maternal amniocentesis with fetal karotyping.

The detection rate for both screening methods gives a false impression of the overall accuracy of current screening tests, with the sensitivity and specificity of the tests resulting in too many false-positive results, exposing many pregnancies to an unnecessary 0.5%-1.0% risk of miscarriage. Furthermore, chromosomal analysis of amniotic fluid cells is a labor-intensive and time-consuming procedure, taking up to two weeks. More reliable tests are, therefore, necessary to improve the detection of chromosomal aneuploidies using maternal serum.

We predict that there are proteomic profiles present in the amniotic fluid or serum of mothers carrying fetuses with aneuploidies that can be utilized to develop a sensitive and specific diagnostic test that can replace the current generation of analytical choices. We are employing a multi-pronged approach to identify proteins and peptides that are differentially expressed in amniotic fluid and/or maternal serum.

The data obtained in this initial phase will provide the foundation for the development of a sensitive and specific high-throughput mass spectrometry-based diagnostic test..