Feasibility of fetal-derived hypermethylated RASSF1A sequence quantification in maternal plasma - Next step toward reliable non-invasive prenatal diagnostics

Experimental and Molecular Pathology

Volumn 89, Issue 3, 2010, Pages 241-247

  Zejskova, L ^a   Jancuskova, T ^a   Kotlabova, K ^a   Doucha, J ^b   Hromadnikova, I ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

DNA quantification; GLO; Hypermethylated RASSF1A sequence; Real time PCR; SRY

Indexed keywords

BETA ACTIN; BETA GLOBIN; RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1A; TESTIS DETERMINING FACTOR;

ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DNA EXTRACTION; DNA METHYLATION; FEASIBILITY STUDY; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENE SEQUENCE; GENETIC VARIABILITY; GESTATIONAL AGE; HUMAN; MALE; MATERNAL PLASMA; NON INVASIVE MEASUREMENT; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SECOND TRIMESTER PREGNANCY; SENSITIVITY AND SPECIFICITY; THIRD TRIMESTER PREGNANCY;

ALCOHOL OXIDOREDUCTASES; DNA; DNA METHYLATION; FEMALE; FETUS; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SEX-DETERMINING REGION Y PROTEIN; TUMOR SUPPRESSOR PROTEINS;

EID: 78249251473     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2010.09.002     Document Type: Article

References (26)

1. Chan K.C., Ding C., Gerovassili A., Yeung S.W., Chiu R.W., Leung T.N., Lau T.K., Chim S.S., Chung G.T., Nicolaides K.H., Lo Y.M. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin. Chem. 2006, 52(12):2211-2218. (Dec).
2. Chan K.C., Lai P.B., Mok T.S., Chan H.L., Ding C., Yeung S.W., Lo Y.M. Quantitative analysis of circulating methylated DNA as a biomarker for hepatocellular carcinoma. Clin. Chem. 2008, 54(9):1528-1536. (Sep; Epub 2008 Jul 24).
3. Chim S.S., Tong Y.K., Chiu R.W., Lau T.K., Leung T.N., Chan L.Y., Oudejans C.B., Ding C., Lo Y.M. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc. Natl. Acad. Sci. U. S. A. 2005, 102(41):14753-14758. (Oct 11).
4. Chim S.S., Jin S., Lee T.Y., Lun F.M., Lee W.S., Chan L.Y., Jin Y., Yang N., Tong Y.K., Leung T.Y., Lau T.K., Ding C., Chiu R.W., Lo Y.M. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21. Clin. Chem. 2008, 54(3):500-511. (Mar; Epub 2008 Jan 17).
5. Costa J.M., Benachi A., Gautier E., Jouannic J.M., Ernault P., Dumez Y. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat. Diagn. 2001, 21(12):1070-1074. (Dec).
6. Donninger H., Vos M.D., Clark G.J. The RASSF1A tumor suppressor. J. Cell Sci. 2007, 120(Pt 18):3163-3172. (Sep 15).
7. Faas B.H., Maaskant-Van Wijk P.A., von dem Borne A.E., van der Schoot C.E., Christiaens G.C. The applicability of different PCR-based methods for fetal RHD and K1 genotyping: a prospective study. Prenat. Diagn. 2000, 20(6):453-458. (Jun).
8. Grunau C., Clark S.J., Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res. 2001, 29(13):E65. (Jul 1).
9. Honda H., Miharu N., Ohashi Y., Samura O., Kinutani M., Hara T., Ohama K. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum. Genet. 2002, 110(1):75-79. (Jan).
10. Hromadnikova I., Houbova B., Hridelova D., Voslarova S., Kofer J., Komrska V., Habart D. Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determination. Prenat. Diagn. 2003, 23(3):235-238. (Mar).
11. Hromadnikova I., Vechetova L., Vesela K., Benesova B., Doucha J., Kulovany E., Vlk R. Non-invasive fetal RHD exon 7 and exon 10 genotyping using real-time PCR testing of fetal DNA in maternal plasma. Fetal Diagn. Ther. 2005, 20(4):275-280. (Jul-Aug).
12. Hromadnikova I., Dlouha K., Doucha J., Mrazikova V., Krofta L. OP01.13: quantification of extracellular DNA in maternal plasma in placenta associated disorders and physiological pregnancies: a pilot study. Ultrasound Obstet Gynecol. 2007, 30(4):459-460. (Oct).
13. Hyland C.A., Gardener G.J., Davies H., Ahvenainen M., Flower R.L., Irwin D., Morris J.M., Ward C.M., Hyett J.A. Evaluation of non-invasive prenatal RHD genotyping of the fetus. Med. J. Aust. 2009, 191(1):21-25. (Jul 6).
14. Legler T.J., Lynen R., Maas J.H., Pindur G., Kulenkampff D., Suren A., Osmers R., Köhler M. Prediction of fetal Rh D and Rh CcEe phenotype from maternal plasma with real-time polymerase chain reaction. Transfus. Apher. Sci. 2002, 27(3):217-223. (Dec).
15. Leung T.N., Zhang J., Lau T.K., Hjelm N.M., Lo Y.M. Maternal plasma fetal DNA as a marker for preterm labour. Lancet 1998, 352(9144):1904-1905. (Dec 12).
16. Leung T.N., Zhang J., Lau T.K., Chan L.Y., Lo Y.M. Increased maternal plasma fetal DNA concentrations in women who eventually develop preeclampsia. Clin. Chem. 2001, 47(1):137-139. (Jan).
17. Lo Y.M., Corbetta N., Chamberlain P.F., Rai V., Sargent I.L., Redman C.W., Wainscoat J.S. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350(9076):485-487. (Aug 16).
18. Lo Y.M., Hjelm N.M., Fidler C., Sargent I.L., Murphy M.F., Chamberlain P.F., Poon P.M., Redman C.W., Wainscoat J.S. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N. Engl. J. Med. 1998, 339(24):1734-1738. (Dec 10).
19. Lo Y.M., Tein M.S., Lau T.K., Haines C.J., Leung T.N., Poon P.M., Wainscoat J.S., Johnson P.J., Chang A.M., Hjelm N.M. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 1998, 62(4):768-775. (Apr).
20. Lo Y.M., Leung T.N., Tein M.S., Sargent I.L., Zhang J., Lau T.K., Haines C.J., Redman C.W. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin. Chem. 1999, 45(2):184-188. (Feb).
21. Old R.W., Crea F., Puszyk W., Hulten M.A. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod. Biomed. Online 2007, 15(2):227-235. (Aug).
22. Papageorgiou E.A., Fiegler H., Rakyan V., Beck S., Hulten M., Lamnissou K., Carter N.P., Patsalis P.C. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009, 174(5):1609-1618. (May; Epub 2009 Apr 6).
23. Sekizawa A., Kondo T., Iwasaki M., Watanabe A., Jimbo M., Saito H., Okai T. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin. Chem. 2001, 47(10):1856-1858. (Oct).
24. Sekizawa A., Sugito Y., Iwasaki M., Watanabe A., Jimbo M., Hoshi S., Saito H., Okai T. Cell-free fetal DNA is increased in plasma of women with hyperemesis gravidarum. Clin. Chem. 2001, 47(12):2164-2165. (Dec).
25. Sekizawa A., Jimbo M., Saito H., Iwasaki M., Sugito Y., Yukimoto Y., Otsuka J., Okai T. Increased cell-free fetal DNA in plasma of two women with invasive placenta. Clin. Chem. 2002, 48(2):353-354. (Feb; No abstract available).
26. Zhong X.Y., Holzgreve W., Hahn S. The levels of circulatory cell free fetal DNA in maternal plasma are elevated prior to the onset of preeclampsia. Hypertens. Pregnancy 2002, 21(1):77-83.