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Articles |
Departments of
1
Chemical Pathology and
2
Obstetrics and Gynecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong SAR.
3
Department of Pediatrics, New England Medical Center and
Tufts University School of Medicine, Boston, MA 02111.
a Author for correspondence. Fax 852-2194-6171; e-mail loym{at}cuhk edu.hk.
Background: The recent discovery of the presence of circulating cell-free fetal DNA in maternal plasma opens up new prenatal diagnostic applications and provides new avenues for clinical investigation. It is of research and potential diagnostic interest to determine whether fetal trisomy 21 may be associated with quantitative abnormalities of circulating fetal DNA in maternal plasma.
Methods: Maternal plasma samples were prospectively collected from two centers situated in Hong Kong and Boston. Samples collected from Boston consisted of 7 women carrying male trisomy 21 fetuses, 19 carrying euploid male fetuses, and 13 carrying female fetuses. Samples collected from Hong Kong consisted of 6 women carrying male trisomy 21 fetuses, 18 carrying euploid male fetuses, and 10 carrying female fetuses. Male fetal DNA in maternal plasma was measured using real-time quantitative Y-chromosomal PCR.
Results: For patients recruited from Boston, the median circulating fetal DNA concentrations in women carrying trisomy 21 and euploid male fetuses were 46.0 genome-equivalents/mL and 23.3 genome-equivalents/mL, respectively (P = 0.028). For patients recruited from Hong Kong, the median circulating fetal DNA concentrations in women carrying trisomy 21 and euploid male fetuses were 48.2 genome-equivalents/mL and 16.3 genome-equivalents/mL, respectively (P = 0.026). None of the samples from women carrying female fetuses had detectable Y-chromosomal signals.
Conclusions: Abnormally high concentrations of circulating fetal DNA are found in a proportion of women carrying fetuses with trisomy 21. The robustness and reproducibility of real-time PCR analysis of maternal plasma makes it a valuable tool for cross-institutional collaboration involving centers located in different parts of the world.
The following articles in journals at HighWire Press have cited this article:
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  E C W Hung, R W K Chiu, and Y M D Lo Detection of circulating fetal nucleic acids: a review of methods and applications J. Clin. Pathol., April 1, 2009; 62(4): 308 - 313. [Abstract] [Full Text] [PDF]
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 C. F. Wright and H. Burton The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis Hum. Reprod. Update, January 1, 2009; 15(1): 139 - 151. [Abstract] [Full Text] [PDF]
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 R. W. K. Chiu, K. C. A. Chan, Y. Gao, V. Y. M. Lau, W. Zheng, T. Y. Leung, C. H. F. Foo, B. Xie, N. B. Y. Tsui, F. M. F. Lun, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma PNAS, December 23, 2008; 105(51): 20458 - 20463. [Abstract] [Full Text] [PDF]
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H. C. Fan, Y. J. Blumenfeld, U. Chitkara, L. Hudgins, and S. R. Quake From the Cover: Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood PNAS, October 21, 2008; 105(42): 16266 - 16271. [Abstract] [Full Text] [PDF]
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 Y. M. Dennis Lo and R. W. K. Chiu Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis Clin. Chem., March 1, 2008; 54(3): 461 - 466. [Abstract] [Full Text] [PDF]
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Y. K. Tong, R. W.K. Chiu, T. Y. Leung, C. Ding, T. K. Lau, T. N. Leung, and Y.M. D. Lo Detection of Restriction Enzyme Digested Target DNA by PCR Amplification Using a Stem-Loop Primer: Application to the Detection of Hypomethylated Fetal DNA in Maternal Plasma Clin. Chem., November 1, 2007; 53(11): 1906 - 1914. [Abstract] [Full Text] [PDF]
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 C. J. Jorgez, D. D. Dang, R. Wapner, A. Farina, J. L. Simpson, and F. Z. Bischoff Elevated levels of total (maternal and fetal) beta-globin DNA in maternal blood from first trimester pregnancies with trisomy 21 Hum. Reprod., August 1, 2007; 22(8): 2267 - 2272. [Abstract] [Full Text] [PDF]
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Y. K. Tong, C. Ding, R. W.K. Chiu, A. Gerovassili, S. S.C. Chim, T. Y. Leung, T. N. Leung, T. K. Lau, K. H. Nicolaides, and Y.M. D. Lo Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations Clin. Chem., December 1, 2006; 52(12): 2194 - 2202. [Abstract] [Full Text] [PDF]
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K.C. A. Chan, C. Ding, A. Gerovassili, S. W. Yeung, R. W.K. Chiu, T. N. Leung, T. K. Lau, S. S.C. Chim, G. T.Y. Chung, K. H. Nicolaides, et al. Hypermethylated RASSF1A in Maternal Plasma: A Universal Fetal DNA Marker that Improves the Reliability of Noninvasive Prenatal Diagnosis Clin. Chem., December 1, 2006; 52(12): 2211 - 2218. [Abstract] [Full Text] [PDF]
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P. D. Pan, I. Peter, G. M. Lambert-Messerlian, J. A. Canick, D. W. Bianchi, and K. L. Johnson Cell-free fetal DNA levels in pregnancies conceived by IVF Hum. Reprod., November 1, 2005; 20(11): 3152 - 3156. [Abstract] [Full Text] [PDF]
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S. S. C. Chim, Y. K. Tong, R. W. K. Chiu, T. K. Lau, T. N. Leung, L. Y. S. Chan, C. B. M. Oudejans, C. Ding, and Y. M. D. Lo Detection of the placental epigenetic signature of the maspin gene in maternal plasma PNAS, October 11, 2005; 102(41): 14753 - 14758. [Abstract] [Full Text] [PDF]
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B. Zimmermann, A. El-Sheikhah, K. Nicolaides, W. Holzgreve, and S. Hahn Optimized Real-Time Quantitative PCR Measurement of Male Fetal DNA in Maternal Plasma Clin. Chem., September 1, 2005; 51(9): 1598 - 1604. [Abstract] [Full Text] [PDF]
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K.C. A. Chan, S.-W. Yeung, W.-B. Lui, T. H. Rainer, and Y.M. D. Lo Effects of Preanalytical Factors on the Molecular Size of Cell-Free DNA in Blood Clin. Chem., April 1, 2005; 51(4): 781 - 784. [Full Text] [PDF]
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 Y.M. D. Lo Recent Advances in Fetal Nucleic Acids in Maternal Plasma J. Histochem. Cytochem., March 1, 2005; 53(3): 293 - 296. [Abstract] [Full Text] [PDF]
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C. Gonzalez-Gonzalez, M. Garcia-Hoyos, M. J. Trujillo-Tiebas, I. Lorda-Sanchez, M. R. de Alba, F. Infantes, J. Gallego, J. Diaz-Recasens, C. Ayuso, and C. Ramos Application of Fetal DNA Detection in Maternal Plasma: A Prenatal Diagnosis Unit Experience J. Histochem. Cytochem., March 1, 2005; 53(3): 307 - 314. [Abstract] [Full Text] [PDF]
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X. Y. Zhong, W. Holzgreve, I. Hoesli, and S. Hahn Circulatory Corticotropin-Releasing Hormone mRNA Concentrations Are Increased in Women with Preterm Delivery But Not in Those Who Respond to Tocolytic Treatment Clin. Chem., March 1, 2005; 51(3): 635 - 636. [Full Text] [PDF]
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S. K. R. Chinnapapagari, W. Holzgreve, O. Lapaire, B. Zimmermann, and S. Hahn 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., March 1, 2005; 51(3): 652 - 655. [Full Text] [PDF]
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G. T.Y. Chung, R. W.K. Chiu, K.C. A. Chan, T. K. Lau, T. N. Leung, and Y.M. D. Lo Lack of Dramatic Enrichment of Fetal DNA in Maternal Plasma by Formaldehyde Treatment Clin. Chem., March 1, 2005; 51(3): 655 - 658. [Full Text] [PDF]
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F. Z. Bischoff, D. E. Lewis, and J. L. Simpson Cell-free fetal DNA in maternal blood: kinetics, source and structure Hum. Reprod. Update, January 1, 2005; 11(1): 59 - 67. [Abstract] [Full Text] [PDF]
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X. Y. Zhong, Y. Wang, S. Chen, Labu, Pubuzhuoma, Gesangzhuogab, Ouzhuwangmu, X. Pan, N. Zhu, C. Hahn, et al. Circulating Fetal DNA in Maternal Plasma Is Increased in Pregnancies at High Altitude and Is Further Enhanced by Preeclampsia Clin. Chem., December 1, 2004; 50(12): 2403 - 2405. [Full Text] [PDF]
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C. Ding, R. W. K. Chiu, T. K. Lau, T. N. Leung, L. C. Chan, A. Y. Y. Chan, P. Charoenkwan, I. S. L. Ng, H.-y. Law, E. S. K. Ma, et al. MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis PNAS, July 20, 2004; 101(29): 10762 - 10767. [Abstract] [Full Text] [PDF]
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 N B Y Tsui, S S C Chim, R W K Chiu, T K Lau, E K O Ng, T N Leung, Y K Tong, K C A Chan, and Y M D Lo Systematic micro-array based identification of placental mRNA in maternal plasma: towards non-invasive prenatal gene expression profiling J. Med. Genet., June 1, 2004; 41(6): 461 - 467. [Full Text] [PDF]
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Y. Li, B. Zimmermann, C. Rusterholz, A. Kang, W. Holzgreve, and S. Hahn Size Separation of Circulatory DNA in Maternal Plasma Permits Ready Detection of Fetal DNA Polymorphisms Clin. Chem., June 1, 2004; 50(6): 1002 - 1011. [Abstract] [Full Text] [PDF]
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H Masuzaki, K Miura, K-i Yoshiura, S Yoshimura, N Niikawa, and T Ishimaru Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism J. Med. Genet., April 1, 2004; 41(4): 289 - 292. [Full Text] [PDF]
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 R. Dhallan, W.-C. Au, S. Mattagajasingh, S. Emche, P. Bayliss, M. Damewood, M. Cronin, V. Chou, and M. Mohr Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal Circulation JAMA, March 3, 2004; 291(9): 1114 - 1119. [Abstract] [Full Text] [PDF]
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J. L. Simpson and F. Bischoff Cell-Free Fetal DNA in Maternal Blood: Evolving Clinical Applications JAMA, March 3, 2004; 291(9): 1135 - 1137. [Full Text] [PDF]
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K. L. Johnson, K. A. Dukes, J. Vidaver, E. S. LeShane, I. Ramirez, W. D. Weber, F. Z. Bischoff, S. Hahn, A. Sharma, D. X. Dang, et al. Interlaboratory Comparison of Fetal Male DNA Detection from Common Maternal Plasma Samples by Real-Time PCR Clin. Chem., March 1, 2004; 50(3): 516 - 521. [Abstract] [Full Text] [PDF]
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A. Sekizawa, A. Farina, Y. Sugito, R. Matsuoka, M. Iwasaki, H. Saito, and T. Okai Proteinuria and Hypertension Are Independent Factors Affecting Fetal DNA Values: A Retrospective Analysis of Affected and Unaffected Patients Clin. Chem., January 1, 2004; 50(1): 221 - 224. [Full Text] [PDF]
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 R. Wapner, E. Thom, J. L. Simpson, E. Pergament, R. Silver, K. Filkins, L. Platt, M. Mahoney, A. Johnson, W. A. Hogge, et al. First-Trimester Screening for Trisomies 21 and 18 N. Engl. J. Med., October 9, 2003; 349(15): 1405 - 1413. [Abstract] [Full Text] [PDF]
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Y. Sugito, A. Sekizawa, A. Farina, Y. Yukimoto, H. Saito, M. Iwasaki, N. Rizzo, and T. Okai Relationship between Severity of Hyperemesis Gravidarum and Fetal DNA Concentration in Maternal Plasma Clin. Chem., October 1, 2003; 49(10): 1667 - 1669. [Full Text] [PDF]
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E. K.O. Ng, T. N. Leung, N. B.Y. Tsui, T. K. Lau, N. S. Panesar, R. W.K. Chiu, and Y.M. D. Lo The Concentration of Circulating Corticotropin-releasing Hormone mRNA in Maternal Plasma Is Increased in Preeclampsia Clin. Chem., May 1, 2003; 49(5): 727 - 731. [Abstract] [Full Text] [PDF]
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M. A. Ferguson-Smith Placental mRNA in maternal plasma: Prospects for fetal screening PNAS, April 15, 2003; 100(8): 4360 - 4362. [Full Text] [PDF]
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E. K. O. Ng, N. B. Y. Tsui, T. K. Lau, T. N. Leung, R. W. K. Chiu, N. S. Panesar, L. C. W. Lit, K.-W. Chan, and Y. M. D. Lo From the Cover: mRNA of placental origin is readily detectable in maternal plasma PNAS, April 15, 2003; 100(8): 4748 - 4753. [Abstract] [Full Text] [PDF]
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A. Farina, E. S. LeShane, G. M. Lambert-Messerlian, J. A. Canick, T. Lee, L. M. Neveux, G. E. Palomaki, and D. W. Bianchi Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy Clin. Chem., February 1, 2003; 49(2): 239 - 242. [Abstract] [Full Text] [PDF]
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R. M. Angert, E. S. LeShane, Y.M. D. Lo, L. Y.S. Chan, L. C. Delli-Bovi, and D. W. Bianchi Fetal Cell-free Plasma DNA Concentrations in Maternal Blood Are Stable 24 Hours after Collection: Analysis of First- and Third-Trimester Samples Clin. Chem., January 1, 2003; 49(1): 195 - 198. [Full Text] [PDF]
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 X. Y. Zhong, W. Holzgreve, and S. Hahn Cell-free fetal DNA in the maternal circulation does not stem from the transplacental passage of fetal erythroblasts Mol. Hum. Reprod., September 1, 2002; 8(9): 864 - 870. [Abstract] [Full Text] [PDF]
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D. W. Bianchi Prenatal Exclusion of Recessively Inherited Disorders: Should Maternal Plasma Analysis Precede Invasive Techniques? Clin. Chem., May 1, 2002; 48(5): 689 - 690. [Full Text] [PDF]
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J.-M. Costa and P. Ernault Automated Assay for Fetal DNA Analysis in Maternal Serum Clin. Chem., April 1, 2002; 48(4): 679 - 680. [Full Text] [PDF]
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K. Spencer Point-of-Care Screening for Chromosomal Anomalies in the First Trimester of Pregnancy Clin. Chem., March 1, 2002; 48(3): 403 - 404. [Full Text] [PDF]
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A. Sekizawa, M. Jimbo, H. Saito, M. Iwasaki, Y. Sugito, Y. Yukimoto, J. Otsuka, and T. Okai Increased Cell-free Fetal DNA in Plasma of Two Women with Invasive Placenta Clin. Chem., February 1, 2002; 48(2): 353 - 354. [Full Text] [PDF]
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Y. Ohashi, N. Miharu, H. Honda, O. Samura, and K. Ohama Correlation of Fetal DNA and Human Chorionic Gonadotropin Concentrations in Second-Trimester Maternal Serum Clin. Chem., February 1, 2002; 48(2): 386 - 388. [Full Text] [PDF]
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A. Sekizawa, Y. Sugito, M. Iwasaki, A. Watanabe, M. Jimbo, S. Hoshi, H. Saito, and T. Okai Cell-free Fetal DNA Is Increased in Plasma of Women with Hyperemesis Gravidarum Clin. Chem., December 1, 2001; 47(12): 2164 - 2165. [Full Text] [PDF]
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D. W. Bianchi, E. S. LeShane, and J. M. Cowan Large Amounts of Cell-free Fetal DNA Are Present in Amniotic Fluid Clin. Chem., October 1, 2001; 47(10): 1867 - 1869. [Full Text] [PDF]
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S. Hahn, X. Yan Zhong, and W. Holzgreve Quantification of Circulating DNA: In the Preparation Lies the Rub Clin. Chem., September 1, 2001; 47(9): 1577 - 1578. [Full Text] [PDF]
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R. W. K. Chiu, L. L. M. Poon, T. K. Lau, T. N. Leung, E. M. C. Wong, and Y. M. D. Lo Effects of Blood-Processing Protocols on Fetal and Total DNA Quantification in Maternal Plasma Clin. Chem., September 1, 2001; 47(9): 1607 - 1613. [Abstract] [Full Text] [PDF]
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C. Wei, D. N. Saller, and J.W.H. Sutherland Detection and Quantification by Homogeneous PCR of Cell-free Fetal DNA in Maternal Plasma Clin. Chem., February 1, 2001; 47(2): 336 - 338. [Full Text] [PDF]
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H. Honda, N. Miharu, Y. Ohashi, and K. Ohama Successful Diagnosis of Fetal Gender Using Conventional PCR Analysis of Maternal Serum Clin. Chem., January 1, 2001; 47(1): 41 - 46. [Abstract] [Full Text] [PDF]
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Y.M. D. Lo Fetal DNA in Maternal Plasma: Biology and Diagnostic Applications Clin. Chem., December 1, 2000; 46(12): 1903 - 1906. [Abstract] [Full Text] [PDF]
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P. Amicucci, M. Gennarelli, G. Novelli, and B. Dallapiccola Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma Clin. Chem., February 1, 2000; 46(2): 301 - 302. [Full Text] [PDF]
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