The development of a peptide SRM-based tandem mass spectrometry assay for prenatal screening of Down syndrome

Journal of Proteomics

Volumn 75, Issue 11, 2012, Pages 3248-3257

  Heywood, Wendy ^a   Wang, Darrell ^a   Madgett, Tracey E ^b   Avent, Neil D ^b   Eaton, Simon ^a   Chitty, Lyn S ^a,c   Mills, Kevin ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF PLYMOUTH   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

Down syndrome; Multiple reaction monitoring; Plasma C1 protease inhibitor; Prenatal screening; Serum amyloid P; Tandem mass spectrometry

Indexed keywords

BIOLOGICAL MARKER; PLASMA C1 INHIBITOR PROTEIN; SERUM AMYLOID P; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DOWN SYNDROME; FEMALE; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; TANDEM MASS SPECTROMETRY; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; WESTERN BLOTTING;

ADULT; COMPLEMENT C1 INACTIVATOR PROTEINS; DOWN SYNDROME; FEMALE; FETUS; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SERUM AMYLOID P-COMPONENT; TANDEM MASS SPECTROMETRY;

EID: 84861661446     PISSN: 18743919     EISSN: 18767737     Source Type: Journal    
DOI: 10.1016/j.jprot.2012.03.037     Document Type: Article

References (27)

1. MacRae A.R., Chodirker B.N., Davies G.A., Palomaki G.E., Knight G.J., Minett J., et al. Second and first trimester estimation of risk for Down syndrome: implementation and performance in the SAFER study. Prenat Diagn 2010 May, 30(5):459-466.
2. Lo Y.M., Corbetta N., Chamberlain P.F., Rai V., Sargent I.L., Redman C.W., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997 Aug 16, 350(9076):485-487.
3. Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., Ehrich M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011 Nov, 13(11):913-920.
4. Kolialexi A., Anagnostopoulos A.K., Mavrou A., Tsangaris G.T. Application of proteomics for diagnosis of fetal aneuploidies and pregnancy complications. J Proteomics 2009 Jul 21, 72(5):731-739.
5. Kolialexi A., Tsangaris G.T., Papantoniou N., Anagnostopoulos A.K., Vougas K., Bagiokos V., et al. Application of proteomics for the identification of differentially expressed protein markers for Down syndrome in maternal plasma. Prenat Diagn 2008 Aug, 28(8):691-698.
6. Lopez M.F., Kuppusamy R., Sarracino D.A., Prakash A., Athanas M., Krastins B., et al. Mass spectrometric discovery and selective reaction monitoring (SRM) of putative protein biomarker candidates in first trimester Trisomy 21 maternal serum. J Proteome Res 2011 Jan 7, 10(1):133-142.
7. Cho C.K., Drabovich A.P., Batruch I., Diamandis E.P. Verification of a biomarker discovery approach for detection of Down syndrome in amniotic fluid via multiplex selected reaction monitoring (SRM) assay. J Proteomics 2011 Sep 6, 74(10):2052-2059.
8. Bystrom C.E., Salameh W., Reitz R., Clarke N.J. Plasma renin activity by LC-MS/MS: development of a prototypical clinical assay reveals a subpopulation of human plasma samples with substantial peptidase activity. Clin Chem 2010 Oct, 56(10):1561-1569.
9. Van E.A., Maes K., Aourz N., Smolders I., Michotte Y. The absolute quantification of endogenous levels of brain neuropeptides in vivo using LC-MS/MS. Bioanalysis 2011 Jun, 3(11):1271-1285.
10. Babic N., Larson T.S., Grebe S.K., Turner S.T., Kumar R., Singh R.J. Application of liquid chromatography-mass spectrometry technology for early detection of microalbuminuria in patients with kidney disease. Clin Chem 2006 Nov, 52(11):2155-2157.
11. Grebe S.K., Singh R.J. LC-MS/MS in the Clinical Laboratory-where to from here?. Clin Biochem Rev 2011 Feb, 32(1):5-31.
12. Barts & The London School of Medicine & Dentistry. Antenatal screening services 1-3-2011. 4-8-2011. http://www.wolfson.qmul.ac.uk/epm/screening/calcrisk.html.
13. Ewles M.F., Turpin P.E., Goodwin L., Bakes D.M. Validation of a bioanalytical method for the quantification of a therapeutic peptide, ramoplanin, in human dried blood spots using LC-MS/MS. Biomed Chromatogr 2011 Sep, 25(9):995-1002.
14. deWilde A., Sadilkova K., Sadilek M., Vasta V., Hahn S.H. Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem 2008 Dec, 54(12):1961-1968.
15. Girardi G., Salmon J.B. The role of complement in pregnancy and fetal loss. Autoimmunity 2003 Feb, 36(1):19-26.
16. Girardi G., Bulla R., Salmon J.E., Tedesco F. The complement system in the pathophysiology of pregnancy. Mol Immunol 2006 Jan, 43(1-2):68-77.
17. Hook E.B., Mutton D.E., Ide R., Alberman E., Bobrow M. The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminated. Am J Hum Genet 1995 Oct, 57(4):875-881.
18. Tennent G.A., Lovat L.B., Pepys M.B. Serum amyloid P component prevents proteolysis of the amyloid fibrils of Alzheimer disease and systemic amyloidosis. Proc Natl Acad Sci U S A 1995 May 9, 92(10):4299-4303.
19. Ying S.C., Gewurz A.T., Jiang H., Gewurz H. Human serum amyloid P component oligomers bind and activate the classical complement pathway via residues 14-26 and 76-92 of the A chain collagen-like region of C1q. J Immunol 1993 Jan 1, 150(1):169-176.
20. Hicks P.S., Saunero-Nava L., Du Clos T.W., Mold C. Serum amyloid P component binds to histones and activates the classical complement pathway. J Immunol 1992 Dec 1, 149(11):3689-3694.
21. Andersen O., Vilsgaard R.K., Juul S.I., Jonson G., Holm N.E., Svehag S.E. Serum amyloid P component binds to influenza A virus haemagglutinin and inhibits the virus infection in vitro. Scand J Immunol 1997 Oct, 46(4):331-337.
22. de Haas C.J., van der Tol M.E., Van Kessel K.P., Verhoef J., Van Strijp J.A. A synthetic lipopolysaccharide-binding peptide based on amino acids 27-39 of serum amyloid P component inhibits lipopolysaccharide-induced responses in human blood. J Immunol 1998 Oct 1, 161(7):3607-3615.
23. Pepys M.B., Booth S.E., Tennent G.A., Butler P.J., Williams D.G. Binding of pentraxins to different nuclear structures: C-reactive protein binds to small nuclear ribonucleoprotein particles, serum amyloid P component binds to chromatin and nucleoli. Clin Exp Immunol 1994 Jul, 97(1):152-157.
24. Voss A., Nielsen E.H., Svehag S.E., Junker P. Serum amyloid P component-DNA complexes are decreased in systemic lupus erythematosus. Inverse association with anti-dsDNA antibodies. J Rheumatol 2008 Apr, 35(4):625-630.
25. Wang Y., Guo Y., Wang X., Huang J., Shang J., Sun S. Serum amyloid P component facilitates DNA clearance and inhibits plasmid transfection: implications for human DNA vaccine. Gene Ther 2012 Jan, 19(1):70-77.
26. Bianchi D.W., Williams J.M., Sullivan L.M., Hanson F.W., Klinger K.W., Shuber A.P. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet 1997 Oct, 61(4):822-829.
27. Lo Y.M., Lau T.K., Zhang J., Leung T.N., Chang A.M., Hjelm N.M., et al. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 1999 Oct, 45(10):1747-1751.