Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: study on 10 pregnancies
By: Eusebiu V. Gorduza, Roxana Popescu, Lavinia Caba, Iuliu Ivanov, Violeta Martiniuc, Florina Nedelea, Mariela Militaru and Demetra G. Socolov
Open Access
|Sep 2013References
- 1. Gorduza EV, Covic M, Stoica O, Voloşciuc M, Angheloni T, Butnariu L, et al. Studii clinice, epidemiologice şi citogenetice pe un lot de 221 pacienţi cu sindrom Down. Rev Med Chir Soc Med Nat Iasi. 2007 Apr- Jun;111(2):363-72.
- 2. Popovici C, Ştefănescu D, Mixitch F, Gug C, Covic M. Profilaxia bolilor genetice. Covic M, Ştefănescu D, Sandovici I (Eds.), Genetică Medicală, 2nd Ed. Polirom Iaşi, 2011:619-646
- 3. Gekas J, van den Berg DG, Durand A, Vallée M, Wildschut HI, Bujold E, et al. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnor- malities. Eur J Hum Genet. 2011 Jan;19(1):3-9.
- 4. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1-7
- 5. Faas BH, Cirigliano V, Bui TH. Rapid methods for targeted prenatal diagnosis of common chromosome aneuploidies. Semin Fetal Neonatal Med. 2011 Apr;16(2):81-7.
- 6. Gorduza EV, Onofriescu M, Martiniuc V, Grigore M, Mihălceanu E, Iliev G. Importanţa tehnicii FISH în diagnosticul prenatal al aneuploidiilor. Rev Med Chir Soc Med Nat Iasi. 2007 Oct-Dec;111(4):990-996
- 7. Hahn S, Yan Zhong X, Holzgreve W. Recent progress in non-invasive prenatal diagnosis. Semin Fetal Neonatal Med. 2008 Apr;13(2):57-62.
- 8. Bianchi DW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP. PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies. Am J Hum Genet. 1997 Oct;61(4):822-9.
- 9. Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15.
- 10. Swarup V, Rajeswari MR. Circulating (cell-free) nucleic acids--a promising, non-invasive tool for early detection of several human diseases. FEBS Lett. 2007 Mar;581(5):795-9.
- 11. Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update. 2005 Jan-Feb;11(1):59-67.
- 12. Dennis Lo YM, Chiu RW. Prenatal diagnosis: progress through plasma nucleic acids. Nat Rev Genet. 2007 Jan;8(1):71-7.
- 13. Lo YM, Leung TN, Tein MS, Sargent IL, Zhang J, Lau TK, et al. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin Chem. 1999 Feb;45(2):184-8.
- 14. Leung TN, Zhang J, Lau TK, Hjelm NM, Lo YM. Maternal plasma fetal DNA as a marker for preterm labour. Lancet. 1998 Dec;352(9144):1904-5.
- 15. Lau TK, Lo KW, Chan LY, Leung TY and Lo YM. Cell-free fetal deoxyribonucleic acid in maternal circulation as a marker of fetal maternal hemorrhage in patients undergoing external cephalic version near term. Am J Obstet Gynecol. 2000 Sep; 183(3):712-716.
- 16. Zhong XY, Holzgreve W, Li JC, Aydinli K, Hahn S. High levels of fetal erythroblasts and fetal extracellular DNA in the peripheral blood of a pregnant woman with idiopathic polyhydramnios: case report. Prenat Diagn. 2000 Oct;20(10):838-41.
- 17. Zhong XY, Bürk MR, Troeger C, Jackson LR, Holzgreve W, Hahn S. Fetal DNA in maternal plasma is elevated in pregnancies with aneuploid fetuses. Prenat Diagn. 2000 Oct;20(10):795-8.
- 18. Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem. 2004 Jan;50(1):88-92.
- 19. van Lith JM, Benacerraf BR, Yagel S. Current controversies in prenatal diagnosis 2: Down syndrome screening: is ultrasound better than cell-free nucleic acids in maternal blood? Prenat Diagn. 2011 Mar;31(3):231-4.
- 20. Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A. 2005 Oct;102(41):14753-8.
- 21. Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One. 2010 May;5(5):e10439.
- 22. Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, et al. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009 May;174(5):1609-18.
- 23. Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med. 2011 Apr;17(4):510-3.
- 24. Papageorgiou EA, Patsalis PC. Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Med. 2012 May;4(5):46.
- 25. Tong YK, Chiu RW, Chan KC, Leung TY, Lo YM. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nat Med. 2012 Sep;18(9):1327-8.
- 26. Norton ME, Rose NC, Benn P., Noninvasive prenatal testing for fetal aneuploidy: Clinical assessment and a plea for restraint, Obstet. Gynecol., 2013 April; 121(4): 847-850
- 27. Nicolaides KH, Syngelaki A, Ashoor G, Birdir C., Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.e1-6
- 28. Morain S, Greene MF, Mello MM., A New Era in Noninvasive Prenatal Testing, N Engl J Med. 2013 Jul 17, 1-4 DOI: 10.1056/NEJMp1304843.
DOI: https://doi.org/10.2478/rrlm-2013-0030 | Journal eISSN: 2284-5623 | Journal ISSN: 1841-6624 (formerly 2284-5623)
Language: English, Romanian
Page range: 275 - 284
Published on: Sep 19, 2013
Published by: Romanian Association of Laboratory Medicine
In partnership with: Paradigm Publishing Services
Related subjects:
© 2013 Eusebiu V. Gorduza, Roxana Popescu, Lavinia Caba, Iuliu Ivanov, Violeta Martiniuc, Florina Nedelea, Mariela Militaru, Demetra G. Socolov, published by Romanian Association of Laboratory Medicine
This work is licensed under the Creative Commons License.