Puszyk, William Matthew, Crea, F. (Francesco) and Old, R. W. (2008) Noninvasive prenatal diagnosis of aneuploidy using cell-free nucleic acids in maternal blood : promises and unanswered questions. Prenatal Diagnosis, Vol.28 (No.1). pp. 1-6. ISSN 0197-3851

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Abstract

The discovery of cell-free fetal (cff) DNA and RNA in the maternal circulation has driven developments in noninvasive prenatal diagnosis (NIPD) for the past decade. Detection of paternally derived alleles in cff DNA is becoming well established. Now much interest is focussing on NIPD of fetal chromosomal abnormalities, such as trisomy 2 1, which is a considerable challenge because this demands accurate quantitative measurements of the amounts of specific cff DNA or cff RNA sequences in maternal blood samples. Emerging strategies for distinguishing and quantifying the fetal nucleic acids in the maternal circulation promise continued development of the field, and pose a number of unanswered questions. Copyright (c) 2007 John Wiley & Sons, Ltd.

Item Type:	Journal Item
Subjects:	R Medicine > RB Pathology R Medicine > RG Gynecology and obstetrics
Divisions:	Faculty of Science > Life Sciences (2010- ) > Biological Sciences ( -2010)
Library of Congress Subject Headings (LCSH):	Diagnosis, Noninvasive -- Evaluation, Prenatal diagnosis -- Evaluation, Aneuploidy, Trisomy, Down syndrome, Human chromosome abnormalities, Nucleic acids
Journal or Publication Title:	Prenatal Diagnosis
Publisher:	John Wiley & Sons Ltd.
ISSN:	0197-3851
Date:	January 2008
Volume:	Vol.28
Number:	No.1
Number of Pages:	6
Page Range:	pp. 1-6
Identification Number:	10.1002/pd.1902
Status:	Peer Reviewed
Publication Status:	Published
Funder:	European Commission (EC)
Grant number:	LSHB-CT-2004-503243 (EC)
References:	Agren J, Thiemermann C, Foster SJ, Wang JE, Aasen AO. 2006. Cytokine responses to CpG DNA in human leukocytes. Scand J Immunol 64: 61–68. Alberry M, Maddocks D, Jones M, et al. 2007. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 27: 415–418. Babochkina T, Mergenthaler S, Dinges TM, Holzgreve W, Hahn S. 2005. Direct detection of fetal cells in maternal blood: a reappraisal using a combination of two different Y chromosome-specific FISH probes and a single X chromosome-specific probe. Arch Gynecol Obstet 273: 166–169. Bayrak-Toydemir P, Pergament E, Fiddler M. 2003. Applying a test system for discriminating fetal from maternal cells. Prenat Diagn 23: 619–624. Benachi A, Steffann GE, Ernault P, Olivi M, Dumez CJM. 2003. Fetal DNA in maternal serum: does it persist after pregnancy? Hum Genet 113: 76–79. Bianchi DW. 2004. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 25(Suppl. A): S93–S101. Bianchi DW, Hanson J. 2006. Sharpening the tools: a summary of a National Institutes of Health workshop on new technologies for detection of fetal cells in maternal blood for early prenatal diagnosis. J Matern Fetal Neonatal Med 19: 199–207. Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. 1996. Male fetal progenitor cells perist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci U S A 93: 705–708. Bianchi DW, Mahr A, Zickwolf GK, Houseal TW, Flint AF, Klinger KW. 1992. Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood. Hum Genet 90: 368–370. Bianchi DW, Simpson JL, Jackson LG, et al. 2002. 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 22: 609–615. Birch L, English CA, O’Donoghue K, Barigye O, Fisk NM, Keer JT. 2005. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem 51: 312–320. Bischoff FZ, Marquez-Do DA, Martinez DI, et al. 2003. Intact fetal cell isolation from maternal blood: improved isolation using a simple whole blood progenitor cell enrichment approach (RosetteSep). Clin Genet 63: 483–489. Chan KC, Zhang J, Hui AB, et al. 2004. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 50: 88–92. Chan KC, Ding C, Gerovassili A, et al. 2006. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 52: 2211–2218. Chim SS, Tong YK, Chiu RW, et al. 2005. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A 102: 14753–14758. Chinnapapagari SK, Holzgreve W, Lapaire O, Zimmermann B, Hahn S. 2005. Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma. Clin Chem 51: 652–655. Chiu RW, Lo YM. 2004. The biology and diagnostic applications of fetal DNA and RNA in maternal plasma. Curr Top Dev Biol 61: 81–111. Chiu RWK, Lui W, Cheung M, et al. 2006. Time profile of appearance and disappearance of circulating placenta-derived mRNA in maternal plasma. Clin Chem 52: 313–316. Chiu RWK, Chim SSC, Wong IHN, et al. 2007. Hypermethylation of RASSFIA in human and Rhesus placentas. Am J Pathol 170: 941–950. Chung GT, Chiu RW, Chan KC, Lau TK, Leung TN, Lo YM. 2005. Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment. Clin Chem 51: 655–658. Clausen FB, Krog GR, Rieneck K, Dziegiel MH. 2007. Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit. Prenat Diagn 27: 6–10. Cornelie S, Poulain-Godefroy O, Lund C, et al. 2004. Methylated CpG-containing plasmid activates the immune system. Scand J Immunol 59: 143–151. Costa JM, Gautier E, Benachi A. 2004. Genetic analysis of the fetus using maternal blood. Gynecol Obstet Fertil 32: 646–650. Dhallan R, Au WC, Mattagajasingh S, et al. 2004. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 291: 1114–1119. Dhallan R, Guo X, Emche S, et al. 2007. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 369: 474–481. Fisher SJ, Cui TY, Zhang L, et al. 1989. Adhesive and degradative properties of human placental cytotrophoblast cells in vitro. J Cell Biol 109: 891–902. Fraga MF, Ballestar E, Paz MF, et al. 2005. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A 102: 10604–10609. Galbiati S, Smid M, Gambini D, et al. 2005. Fetal DNA detection in maternal plasma throughout gestation. Hum Genet 117: 243–248. Grunau C, Clark SJ, Rosenthal A. 2001. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 29: E65–E65. Guetta E, Gutstein-Abo L, Barkai G. 2005. Trophoblasts isolated from the maternal circulation: in vitro expansion and potential application in non-invasive prenatal diagnosis. J Histochem Cytochem 53: 337–339. Guetta E, Gordon D, Simchen MJ, Goldman B, Barkai G. 2003. Hematopoietic progenitor cells as targets for non-invasive prenatal diagnosis: detection of fetal CD34+ cells and assessment of postdelivery persistence in the maternal circulation. Blood Cells Mol Dis 30: 13–21. Guldberg P, Worm J, Gronbaek K. 2002. Profiling DNA methylation by melting analysis. Methods 27: 121–127. Hahn S, Zhong X, Holzgreve W. 2007. Non-invasive prenatal diagnosis of Down’s syndrome. Lancet 369: 1997–1998, author reply 1998–9. Herman JG. 2004. Circulating methylated DNA. Ann N Y Acad Sci 1022: 33–39. Hobbs CA, Sherman SL, Yi P, et al. 2000. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67: 623–630. Hult´en MA, Old RW. 2007. Non-invasive prenatal diagnosis of Down’s syndrome. Lancet 369: 1997, author reply 1998–9. Ingargiola I, Vaerman J-L, Debi`eve F, Palgen G, Verellen-Dumoulin C, Hubinont C. 2003. Free fetal DNA concentration in maternal plasma during normal labour at term. Prenat Diagn 23: 1077–1082. Invernizzi P, Biondi ML, Battezzati PM, et al. 2002. Presence of fetal DNA in maternal plasma decades after pregnancy. Hum Genet 110: 587–591. Januchowski R, Prokop J, Jagodzinski PP. 2004. Role of epigenetic DNA alterations in the pathogenesis of systemic lupus erythematosus. J Appl Genet 45: 237–248. Jahr S, Hentze H, Englisch S, et al. 2001. DNA fragments in the blood plasma of cancer patients: quantitations and evidence for their origin from apoptotic and necrotic cells. Cancer Res 61: 1659–1665. Johnson-Hopson CN, Artlett CM. 2002. Evidence against the longterm persistence of fetal DNA in maternal plasma after pregnancy. Hum Genet 111: 575. Lau TW, Leung TN, Chan LY, et al. 2002. Fetal DNA clearance from maternal plasma is impaired in preeclampsia. Clin Chem 48: 2141–2146. Legler TJ, Liu Z, Mavrou A, et al. 2007. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn 27: 824–829. Li Y, Holzgreve W, Page-Christiaens GC, Gille JJ, Hahn S. 2004. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma–case report. Prenat Diagn 24: 896–898. Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S. 2005. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 293: 843–849. Librach CL, Werb Z, Fitzgerald ML, et al. 1991. 92-kD type IV collagenase mediates invasion of human cytotrophoblasts. J Cell Biol 113: 437–449. Liu Q, Sommer SS. 2004. PAP: detection of ultra rare mutations depends on P* oligonucleotides: “sleeping beauties” awakened by the kiss of pyrophosphorolysis. Hum Mutat 23: 426–436. Lo YM. 2006. Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping. Transfus Clin Biol 13: 50–52. Lo YM, Chiu RW. 2007. Non-invasive prenatal diagnosis of Down’s syndrome. Lancet 369: 1997, author reply 1998–1999. Lo YM, Corbetta N, Chamberlain PF, et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485–487. Lo YM, Tein MS, Lau TK, et al. 1998. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62: 768–775. Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM. 1999. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64: 218–224. Lo YMD, Lun FMF, Chan KCA, et al. 2007a. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 104: 13116–13121. Lo YM, Tsui NB, Chiu RW, et al. 2007b. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 13: 218–223. Lui YY, Chik KW, Chiu RW, Ho CY, Lam CW, Lo YM. 2002. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem 48: 421–427. Lun FM, Chiu RW, Leung TY, Leung TN, Lau TK, Lo YM. 2007. Epigenetic analysis of RASSF1A gene in cell-free DNA in amniotic fluid. Clin Chem 53: 796–798. Maron JL, Johnson KL, Slonim D, et al. 2007. Gene expression analysis in pregnant women and their infants identifies unique fetal biomarkers that circulate in maternal blood. J Clin Invest 117: 3007–3019. Martin GM. 2005. Epigenetic drift in aging identical twins. Proc Natl Acad Sci U S A 102: 10413–10414. Mavrou A, Kouvidi E, Antsaklis A, Souka A, Kitsiou Tzeli S, Kolialexi A. 2007. Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications. Prenat Diagn 27: 150–153. Nelson M, Eagle C, Langshaw M, Popp H, Kronenberg H. 2001. Genotyping fetal DNA by non-invasive means: extraction from maternal plasma. Vox Sang 80: 112–116. Ng EK, Tsui NB, Lam NY, et al. 2002. Presence of filterable and nonfilterable mRNA in the plasma of cancer patients and healthy individuals. Clin Chem 48: 1212–1217. Ng EK, Tsui NB, Lau TK, et al. 2003a. mRNA of placental origin is readily detectable in maternal plasma. Proc Natl Acad Sci U S A 100: 4748–4753. Ng EK, Leung TN, Tsui NB, et al. 2003b. The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia. Clin Chem 49: 727–731. Old RW, Crea F, Puszyk W, Hulten MA. 2007. Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome. Reprod Biomed Online 15: 227–235. Oudejans CB, Go AT, Visser A, et al. 2003. Detection of chromosome 21-encoded mRNA of placental origin in maternal plasma. Clin Chem 49: 1445–1449. Partsalis T, Chan LY, Hurworth M, et al. 2006. Evidence of circulating donor genetic material in bone allotransplantation. Int J Mol Med 17: 1151–1155. Poon LLM, Leung TN, Lau TK, Chow KCK, Lo YDM. 2002. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem 48: 35–41. Rijnders RJ, Christiaens GC, Soussan AA, van der Schoot CE. 2004. Cell-free fetal DNA is not present in plasma of nonpregnant mothers. Clin Chem 50: 697–681. Saker A, Benachi A, Bonnefont JP, et al. 2006. Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. Prenat Diagn 26: 906–916. Sekizawa A, Kondo T, Iwasaki M, et al. 2001. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem 47: 1856–1858. Smid M, Galbiati S, Vassollo A, et al. 2003. No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet 112: 617–618. Smid M, Galbiati S, Lojacono A, et al. 2006. Correlation of fetal DNA levels in maternal plasma with Doppler status in pathological pregnancies. Prenat Diagn 26: 785–790. Tjoa ML, Cindrova-Dvaies T, Spasic-Boskovic O, Bianchi DW, Burton GJ. 2006. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Tong YK, Lo YM. 2006. Plasma epigenetic markers for cancer detection and prenatal diagnosis. Front Biosci 11: 2647–2656. Tong YK, Ding C, Chiu RWK, et al. 2006. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations. Clin Chem 52: 2194–2202. Tsui NB, Ng EK, Lo YM. 2002. Stability of endogenous and added RNA in blood specimens, serum, and plasma. Clin Chem 48: 1647–1653. Tsui NB, Chiu RW, Ding C, et al. 2005. Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms. Clin Chem 51: 2358–2362. Van der Schoot CE, Soussan AA, Koelewijn J, Bonsel G, Paget- Christiaens LG, de Haas M. 2006. Non-invasive antenatal RHD typing. Transfus Clin Biol 13: 53–57. Wakuda K, Yoshida Y. 1992. DNA ploidy and proliferative characteristics of human trophoblasts. Acta Obstet Gynecol Scand 71: 12–16. Weier JF, Weier HU, Jung CJ, et al. 2005. Human cytotrophoblasts acquire aneuploidies as they differentiate to an invasive phenotype. Dev Biol 279: 420–432. Wilson IM, Davies JJ, Weber M, et al. 2006. Epigenomics: mapping the methylome. Cell Cycle 5: 155–158. Yamada Y, Watanabe H, Miura F, et al. 2004. A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q. Genome Res 14: 247–266. Yoshikawa T, Imazu S, Gao JQ, et al. 2006. Non-methylated CpG motif packaged into fusogenic liposomes enhance antigen-specific immunity in mice. Biol Pharm Bull 29: 105–109. Zybina TG, Kaufmann P, Frank HG, Freed J, Kadyrov M, Biesterfeld S. 2002. Genome multiplication of extravillous trophoblast cells in human placenta in the course of differentiation and invasion into endometrium and myometrium. I. Dynamics of polyploidization. Tsitologiia 44: 1058–1067.
URI:	http://wrap.warwick.ac.uk/id/eprint/30450

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