Patent Number: 8,574,860

Title: Biomarkers for the detection and screening of down syndrome

Abstract: The disclosure includes assays and methods for screening for risk of Down syndrome and/or trisomy 21 in a fetus. The assays and methods comprise determining the level of at least one biomarker selected from mucin 13 (MUC13), bile salt-activated lipase (CEL), dipeptidyl peptidase 4 (DPP4), carboxypeptidase A1 (CPA1), amyloid precursor protein (APP) and tenascin-C (TNC-C) polypeptides in a test biological sample from a pregnant subject, wherein a decreased level of MUC13, CEL, DPP4, and/or CPA1 polypeptide and/or an increased level of APP and/or TNC-C polypeptide in the test biological sample compared to a corresponding reference biomarker polypeptide level indicates an increased risk of Down syndrome or trisomy 21 in the fetus. The disclosure also includes assays, compositions, immunoassays, and kits for performing the methods disclosed herein.

Inventors: Diamandis; Eleftherios P. (Toronto, CA), Cho; Chan-Kyung Jane (Toronto, CA), Martinez Morillo; Eduardo (Toronto, CA)

Assignee: University Health Network

International Classification: G01N 33/573 (20060101); A61K 35/50 (20060101); A61K 35/14 (20060101); A61K 38/00 (20060101); A61K 35/413 (20060101); A61P 25/00 (20060101)

Expiration Date: 1/05/12017