-
1
-
-
27744477773
-
First-trimester or second-trimester screening, or both, for Down's syndrome
-
Malone F.D., Canick J.A., Ball R.H., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005, 353:2001-2011.
-
(2005)
N Engl J Med
, vol.353
, pp. 2001-2011
-
-
Malone, F.D.1
Canick, J.A.2
Ball, R.H.3
-
2
-
-
34548405957
-
Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review
-
Mujezinovic F., Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007, 110:687-694.
-
(2007)
Obstet Gynecol
, vol.110
, pp. 687-694
-
-
Mujezinovic, F.1
Alfirevic, Z.2
-
3
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
Lo Y.M.D., Corbetta N., Chamberlain P.F., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350:485-487.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.D.1
Corbetta, N.2
Chamberlain, P.F.3
-
4
-
-
3242694973
-
Fetal cell-free nucleic acids in the maternal circulation: new clinical applications
-
Wataganara T., Bianchi D.W. Fetal cell-free nucleic acids in the maternal circulation: new clinical applications. Ann N Y Acad Sci 2004, 1022:90-99.
-
(2004)
Ann N Y Acad Sci
, vol.1022
, pp. 90-99
-
-
Wataganara, T.1
Bianchi, D.W.2
-
5
-
-
0043124696
-
Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique
-
Guibert J., Benachi A., Grebille A.G., Ernault P., Zorn J.R., Costa J.M. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod 2003, 18:1733-1736.
-
(2003)
Hum Reprod
, vol.18
, pp. 1733-1736
-
-
Guibert, J.1
Benachi, A.2
Grebille, A.G.3
Ernault, P.4
Zorn, J.R.5
Costa, J.M.6
-
6
-
-
34347230507
-
Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast
-
Alberry M., Maddocks D., Jones M., et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn 2007, 27:415-418.
-
(2007)
Prenat Diagn
, vol.27
, pp. 415-418
-
-
Alberry, M.1
Maddocks, D.2
Jones, M.3
-
7
-
-
26844478953
-
Detection of the placental epigenetic signature of the maspin gene in maternal plasma
-
Chim S.S.C., Tong Y.K., Chiu R.W.K., et al. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA 2005, 102:14753-14758.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 14753-14758
-
-
Chim, S.S.C.1
Tong, Y.K.2
Chiu, R.W.K.3
-
8
-
-
1942501800
-
Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism
-
Masuzaki H., Miura K., Yoshiura K., Yoshimura S., Niikawa N., Ishimaru T. Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism. J Med Genet 2004, 41:289-292.
-
(2004)
J Med Genet
, vol.41
, pp. 289-292
-
-
Masuzaki, H.1
Miura, K.2
Yoshiura, K.3
Yoshimura, S.4
Niikawa, N.5
Ishimaru, T.6
-
9
-
-
0036177799
-
Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation
-
Lui Y.N.Y.N., Chik K.W., Chiu R.W.K., Ho C.Y., Lam C.W.K., Lo Y.M.D. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem 2002, 48:421-427.
-
(2002)
Clin Chem
, vol.48
, pp. 421-427
-
-
Lui, Y.N.Y.N.1
Chik, K.W.2
Chiu, R.W.K.3
Ho, C.Y.4
Lam, C.W.K.5
Lo, Y.M.D.6
-
10
-
-
1642574222
-
Size distributions of maternal and fetal DNA in maternal plasma
-
Chan K.C.A., Zhang J., Hui A.B.Y., et al. Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004, 50:88-92.
-
(2004)
Clin Chem
, vol.50
, pp. 88-92
-
-
Chan, K.C.A.1
Zhang, J.2
Hui, A.B.Y.3
-
11
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
Lo Y.M.D., Chan K.C.A., Sun H., et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010, 2.
-
(2010)
Sci Transl Med
, vol.2
-
-
Lo, Y.M.D.1
Chan, K.C.A.2
Sun, H.3
-
12
-
-
0347898005
-
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
-
Lo Y.M., Tein M.S., Lau T.K., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998, 62:768-775.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 768-775
-
-
Lo, Y.M.1
Tein, M.S.2
Lau, T.K.3
-
13
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
-
Chiu R.W., Akolekar R., Zheng Y.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401.
-
(2011)
BMJ
, vol.342
-
-
Chiu, R.W.1
Akolekar, R.2
Zheng, Y.W.3
-
14
-
-
84880863124
-
High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing
-
Yu S.C., Lee S.W., Jiang P., et al. High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing. Clin Chem 2013, 59:1228-1237.
-
(2013)
Clin Chem
, vol.59
, pp. 1228-1237
-
-
Yu, S.C.1
Lee, S.W.2
Jiang, P.3
-
15
-
-
80051564369
-
Noninvasive fetal sex determination using cell-free fetal DNA a systematic review and meta-analysis
-
Devaney S.A., Palomaki G.E., Scott J.A., Bianchi D.W. Noninvasive fetal sex determination using cell-free fetal DNA a systematic review and meta-analysis. JAMA 2011, 306:627-636.
-
(2011)
JAMA
, vol.306
, pp. 627-636
-
-
Devaney, S.A.1
Palomaki, G.E.2
Scott, J.A.3
Bianchi, D.W.4
-
16
-
-
84355166816
-
Standardization non-invasive fetal RHD and SRY determination into clinical routine using a new multiplex RT-PCR assay for fetal cell-free DNA in pregnant women plasma: results in clinical benefits and cost saving
-
Macher H.C., Noguerol P., Medrano-Campillo P., et al. Standardization non-invasive fetal RHD and SRY determination into clinical routine using a new multiplex RT-PCR assay for fetal cell-free DNA in pregnant women plasma: results in clinical benefits and cost saving. Clin Chim Acta 2012, 413:490-494.
-
(2012)
Clin Chim Acta
, vol.413
, pp. 490-494
-
-
Macher, H.C.1
Noguerol, P.2
Medrano-Campillo, P.3
-
17
-
-
84864288916
-
Noninvasive single-exon fetal RHD determination in a routine screening program in early pregnancy
-
Wikman A.T., Tiblad E., Karlsson A., Olsson M.L., Westgren M., Reilly M. Noninvasive single-exon fetal RHD determination in a routine screening program in early pregnancy. Obstet Gynecol 2012, 120:227-234.
-
(2012)
Obstet Gynecol
, vol.120
, pp. 227-234
-
-
Wikman, A.T.1
Tiblad, E.2
Karlsson, A.3
Olsson, M.L.4
Westgren, M.5
Reilly, M.6
-
18
-
-
61549101535
-
Sonographic fetal sex determination
-
Odeh M., Grinin V., Kais M., Ophir E., Bornstein J. Sonographic fetal sex determination. Obstet Gynecol Surv 2009, 64:50-57.
-
(2009)
Obstet Gynecol Surv
, vol.64
, pp. 50-57
-
-
Odeh, M.1
Grinin, V.2
Kais, M.3
Ophir, E.4
Bornstein, J.5
-
19
-
-
59649095981
-
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Nimkarn S., New M.I. Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Mol Cell Endocrinol 2009, 300:192-196.
-
(2009)
Mol Cell Endocrinol
, vol.300
, pp. 192-196
-
-
Nimkarn, S.1
New, M.I.2
-
20
-
-
79958087361
-
Non-invasive prenatal determination of fetal sex: translating research into clinical practice
-
Hill M., Finning K., Martin P., et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011, 80:68-75.
-
(2011)
Clin Genet
, vol.80
, pp. 68-75
-
-
Hill, M.1
Finning, K.2
Martin, P.3
-
21
-
-
84861421570
-
Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom
-
Hill M., Lewis C., Jenkins L., Allen S., Elles R.G., Chitty L.S. Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom. Expert Opin Biol Ther 2012, 12:S119-S126.
-
(2012)
Expert Opin Biol Ther
, vol.12
-
-
Hill, M.1
Lewis, C.2
Jenkins, L.3
Allen, S.4
Elles, R.G.5
Chitty, L.S.6
-
22
-
-
48549093650
-
Management of rhesus alloimmunization in pregnancy
-
Moise K.J. Management of rhesus alloimmunization in pregnancy. Obstet Gynecol 2008, 112:164-176.
-
(2008)
Obstet Gynecol
, vol.112
, pp. 164-176
-
-
Moise, K.J.1
-
24
-
-
0032506669
-
Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma
-
Lo Y.M.D., Hjelm N.M., Fidler C., et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998, 339:1734-1738.
-
(1998)
N Engl J Med
, vol.339
, pp. 1734-1738
-
-
Lo, Y.M.D.1
Hjelm, N.M.2
Fidler, C.3
-
25
-
-
0032505654
-
Detection of fetal RHD-specific sequences in maternal plasma
-
Faas B.H.W., Beuling E.A., Christiaens G.C.M.L., von dem Borne A.E.G.K., van der Schoot C.E. Detection of fetal RHD-specific sequences in maternal plasma. Lancet 1998, 352:1196.
-
(1998)
Lancet
, vol.352
, pp. 1196
-
-
Faas, B.H.W.1
Beuling, E.A.2
Christiaens, G.C.M.L.3
Von Dem Borne, A.E.G.K.4
van der Schoot, C.E.5
-
26
-
-
67650263847
-
Prenatal RhD testing: a review of studies published from 2006 to 2008
-
Legler T.J., Muller S.P., Haverkamp A., Grill S., Hahn S. Prenatal RhD testing: a review of studies published from 2006 to 2008. Transfus Med Hemother 2009, 36:189-198.
-
(2009)
Transfus Med Hemother
, vol.36
, pp. 189-198
-
-
Legler, T.J.1
Muller, S.P.2
Haverkamp, A.3
Grill, S.4
Hahn, S.5
-
27
-
-
84855526742
-
Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study
-
Fernandez-Martinez F.J., Galindo A., Garcia-Burguillo A., et al. Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study. Genet Med 2012, 14:101-106.
-
(2012)
Genet Med
, vol.14
, pp. 101-106
-
-
Fernandez-Martinez, F.J.1
Galindo, A.2
Garcia-Burguillo, A.3
-
28
-
-
3242691320
-
A clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasma
-
Finning K., Martin P., Daniels G. A clinical service in the UK to predict fetal Rh (Rhesus) D blood group using free fetal DNA in maternal plasma. Ann N Y Acad Sci 2004, 1022:119-123.
-
(2004)
Ann N Y Acad Sci
, vol.1022
, pp. 119-123
-
-
Finning, K.1
Martin, P.2
Daniels, G.3
-
29
-
-
67049116478
-
Non-invasive prenatal paternity testing from maternal blood
-
Wagner J., Dzijan S., Marjanovic D., Lauc G. Non-invasive prenatal paternity testing from maternal blood. Int J Legal Med 2009, 123:75-79.
-
(2009)
Int J Legal Med
, vol.123
, pp. 75-79
-
-
Wagner, J.1
Dzijan, S.2
Marjanovic, D.3
Lauc, G.4
-
30
-
-
84860432504
-
A noninvasive test to determine paternity in pregnancy
-
Guo X., Bayliss P., Damewood M., et al. A noninvasive test to determine paternity in pregnancy. N Engl J Med 2012, 366:1743-1745.
-
(2012)
N Engl J Med
, vol.366
, pp. 1743-1745
-
-
Guo, X.1
Bayliss, P.2
Damewood, M.3
-
31
-
-
84869426753
-
FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma
-
Jiang P.Y., Chan K.C.A., Liao G.J.W., et al. FetalQuant: deducing fractional fetal DNA concentration from massively parallel sequencing of DNA in maternal plasma. Bioinformatics 2012, 28:2883-2890.
-
(2012)
Bioinformatics
, vol.28
, pp. 2883-2890
-
-
Jiang, P.Y.1
Chan, K.C.A.2
Liao, G.J.W.3
-
32
-
-
84873186698
-
Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis
-
Qu J.Z.Z., Leung T.Y., Jiang P.Y., et al. Noninvasive prenatal determination of twin zygosity by maternal plasma DNA analysis. Clin Chem 2013, 59:427-435.
-
(2013)
Clin Chem
, vol.59
, pp. 427-435
-
-
Qu, J.Z.Z.1
Leung, T.Y.2
Jiang, P.Y.3
-
33
-
-
0036140193
-
Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma
-
Poon L.L., Leung T.N., Lau T.K., Chow K.C., Lo Y.M. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin Chem 2002, 48:35-41.
-
(2002)
Clin Chem
, vol.48
, pp. 35-41
-
-
Poon, L.L.1
Leung, T.N.2
Lau, T.K.3
Chow, K.C.4
Lo, Y.M.5
-
34
-
-
28544448867
-
Epigenetic inactivation of the CIP/KIP cell-cycle control pathway in acute leukemias
-
Chim C.S., Wong A.S., Kwong Y.L. Epigenetic inactivation of the CIP/KIP cell-cycle control pathway in acute leukemias. Am J Hematol 2005, 80:282-287.
-
(2005)
Am J Hematol
, vol.80
, pp. 282-287
-
-
Chim, C.S.1
Wong, A.S.2
Kwong, Y.L.3
-
35
-
-
33744458195
-
Plasma epigenetic markers for cancer detection and prenatal diagnosis
-
Tong Y.K., Lo Y.M. Plasma epigenetic markers for cancer detection and prenatal diagnosis. Front Biosci 2006, 11:2647-2656.
-
(2006)
Front Biosci
, vol.11
, pp. 2647-2656
-
-
Tong, Y.K.1
Lo, Y.M.2
-
36
-
-
79953739378
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
-
Papageorgiou E.A., Karagrigoriou A., Tsaliki E., Velissariou V., Carter N.P., Patsalis P.C. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011, 17:510-513.
-
(2011)
Nat Med
, vol.17
, pp. 510-513
-
-
Papageorgiou, E.A.1
Karagrigoriou, A.2
Tsaliki, E.3
Velissariou, V.4
Carter, N.P.5
Patsalis, P.C.6
-
37
-
-
81755176083
-
Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma
-
Lim J.H., Kim S.Y., Park S.Y., et al. Non-invasive epigenetic detection of fetal trisomy 21 in first trimester maternal plasma. PLoS One 2011, 6:e27709.
-
(2011)
PLoS One
, vol.6
-
-
Lim, J.H.1
Kim, S.Y.2
Park, S.Y.3
-
38
-
-
33846903851
-
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
-
Lo Y.M., Tsui N.B., Chiu R.W., et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007, 13:218-223.
-
(2007)
Nat Med
, vol.13
, pp. 218-223
-
-
Lo, Y.M.1
Tsui, N.B.2
Chiu, R.W.3
-
39
-
-
35348999450
-
Detection of aneuploidy with digital polymerase chain reaction
-
Fan H.C., Quake S.R. Detection of aneuploidy with digital polymerase chain reaction. Anal Chem 2007, 79:7576-7579.
-
(2007)
Anal Chem
, vol.79
, pp. 7576-7579
-
-
Fan, H.C.1
Quake, S.R.2
-
40
-
-
34548727890
-
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
-
Lo Y.M.D., Lun F.M.F., Chan K.C.A., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 2007, 104:13116-13121.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13116-13121
-
-
Lo, Y.M.D.1
Lun, F.M.F.2
Chan, K.C.A.3
-
41
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu R.W., Chan K.C., Gao Y., et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 2008, 105:20458-20463.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.1
Chan, K.C.2
Gao, Y.3
-
42
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan H.C., Blumenfeld Y.J., Chitkara U., Hudgins L., Quake S.R. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008, 105:16266-16271.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
43
-
-
84857502701
-
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
-
Sparks A.B., Wang E.T., Struble C.A., et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenatl Diagn 2012, 32:3-9.
-
(2012)
Prenatl Diagn
, vol.32
, pp. 3-9
-
-
Sparks, A.B.1
Wang, E.T.2
Struble, C.A.3
-
44
-
-
84868288522
-
Genomic analysis of fetal nucleic acids in maternal blood
-
Lo Y.M., Chiu R.W. Genomic analysis of fetal nucleic acids in maternal blood. Annu Rev Genomics Hum Genet 2012, 13:285-306.
-
(2012)
Annu Rev Genomics Hum Genet
, vol.13
, pp. 285-306
-
-
Lo, Y.M.1
Chiu, R.W.2
-
45
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen E.Z., Chiu R.W., Sun H., et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011, 6:e21791.
-
(2011)
PLoS One
, vol.6
-
-
Chen, E.Z.1
Chiu, R.W.2
Sun, H.3
-
46
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
-
Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011, 13:913-920.
-
(2011)
Genet Med
, vol.13
, pp. 913-920
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
-
47
-
-
84866370851
-
Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience
-
Lau T.K., Chan M.K., Lo P.S., et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med 2012, 25:1856-1859.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1856-1859
-
-
Lau, T.K.1
Chan, M.K.2
Lo, P.S.3
-
48
-
-
84868029481
-
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
-
[374 e371-376]
-
Nicolaides K.H., 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 e371-376].
-
(2012)
Am J Obstet Gynecol
, vol.207
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Ashoor, G.3
Birdir, C.4
Touzet, G.5
-
49
-
-
84878150323
-
Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population
-
Fairbrother G., Johnson S., Musci T.J., Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn 2013, 33:580-583.
-
(2013)
Prenat Diagn
, vol.33
, pp. 580-583
-
-
Fairbrother, G.1
Johnson, S.2
Musci, T.J.3
Song, K.4
-
50
-
-
84870688045
-
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
-
Dan S., Wang W., Ren J., et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 2012, 32:1225-1232.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1225-1232
-
-
Dan, S.1
Wang, W.2
Ren, J.3
-
51
-
-
84878120833
-
Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
-
Futch T., Spinosa J., Bhatt S., de Feo E., Rava R.P., Sehnert A.J. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013, 33:569-574.
-
(2013)
Prenat Diagn
, vol.33
, pp. 569-574
-
-
Futch, T.1
Spinosa, J.2
Bhatt, S.3
de Feo, E.4
Rava, R.P.5
Sehnert, A.J.6
-
52
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen E.Z., Chiu R.W.K., Sun H., et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011, 6.
-
(2011)
PLoS One
, vol.6
-
-
Chen, E.Z.1
Chiu, R.W.K.2
Sun, H.3
-
53
-
-
84863954202
-
Non-invasive prenatal measurement of the fetal genome
-
Fan H.C., Gu W., Wang J.B., Blumenfeld Y.J., El-Sayed Y.Y., Quake S.R. Non-invasive prenatal measurement of the fetal genome. Nature 2012, 487:320-+.
-
(2012)
Nature
, vol.487
-
-
Fan, H.C.1
Gu, W.2
Wang, J.B.3
Blumenfeld, Y.J.4
El-Sayed, Y.Y.5
Quake, S.R.6
-
55
-
-
84876100471
-
Haplotype-assisted accurate noninvasive fetal whole genome recovery through maternal plasma sequencing
-
Chen S., Ge H., Wang X., et al. Haplotype-assisted accurate noninvasive fetal whole genome recovery through maternal plasma sequencing. Genome Med 2013, 5:18.
-
(2013)
Genome Med
, vol.5
, pp. 18
-
-
Chen, S.1
Ge, H.2
Wang, X.3
-
57
-
-
0037342690
-
Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR
-
Gonzalez-Gonzalez M.C., Trujillo M.J., de Alba M.R., et al. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat Diagn 2003, 23:232-234.
-
(2003)
Prenat Diagn
, vol.23
, pp. 232-234
-
-
Gonzalez-Gonzalez, M.C.1
Trujillo, M.J.2
de Alba, M.R.3
-
58
-
-
0037426408
-
Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR
-
Gonzalez-Gonzalez M.C., Trujillo M.J., De alba M.R., Ramos C. Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. Neurology 2003, 60:1214-1215.
-
(2003)
Neurology
, vol.60
, pp. 1214-1215
-
-
Gonzalez-Gonzalez, M.C.1
Trujillo, M.J.2
De Alba, M.R.3
Ramos, C.4
-
59
-
-
56049089009
-
Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study
-
Bustamante-Aragones A., Trujillo-Tiebas M.J., Gallego-Merlo J., et al. Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study. Eur J Neurol 2008, 15:1338-1344.
-
(2008)
Eur J Neurol
, vol.15
, pp. 1338-1344
-
-
Bustamante-Aragones, A.1
Trujillo-Tiebas, M.J.2
Gallego-Merlo, J.3
-
60
-
-
0033968645
-
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
-
Amicucci P., Gennarelli M., Novelli G., Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000, 46:301-302.
-
(2000)
Clin Chem
, vol.46
, pp. 301-302
-
-
Amicucci, P.1
Gennarelli, M.2
Novelli, G.3
Dallapiccola, B.4
-
61
-
-
0034734711
-
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma
-
Saito H., Sekizawa A., Morimoto T., Suzuki M., Yanaihara T. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 2000, 356:1170.
-
(2000)
Lancet
, vol.356
, pp. 1170
-
-
Saito, H.1
Sekizawa, A.2
Morimoto, T.3
Suzuki, M.4
Yanaihara, T.5
-
62
-
-
33846449071
-
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay
-
Li Y., Page-Christiaens G.C.M.L., Gille J.J.P., Holzgreve W., Hahn S. Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn 2007, 27:11-17.
-
(2007)
Prenat Diagn
, vol.27
, pp. 11-17
-
-
Li, Y.1
Page-Christiaens, G.C.M.L.2
Gille, J.J.P.3
Holzgreve, W.4
Hahn, S.5
-
63
-
-
58149401202
-
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
-
Lun F.M.F., Tsui N.B.Y., Chan K.C.A., et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci USA 2008, 105:19920-19925.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 19920-19925
-
-
Lun, F.M.F.1
Tsui, N.B.Y.2
Chan, K.C.A.3
-
64
-
-
84861658383
-
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia
-
Barrett A.N., McDonnell T.C.R., Chan K.C.A., Chitty L.S. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 2012, 58:1026-1032.
-
(2012)
Clin Chem
, vol.58
, pp. 1026-1032
-
-
Barrett, A.N.1
McDonnell, T.C.R.2
Chan, K.C.A.3
Chitty, L.S.4
-
65
-
-
79953703694
-
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA
-
Tsui N.B.Y., Kadir R.A., Chan K.C.A., et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011, 117:3684-3691.
-
(2011)
Blood
, vol.117
, pp. 3684-3691
-
-
Tsui, N.B.Y.1
Kadir, R.A.2
Chan, K.C.A.3
-
66
-
-
84866977090
-
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia
-
Lam K.W.G., Jiang P., Liao G.J.W., et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012, 58:1467-1475.
-
(2012)
Clin Chem
, vol.58
, pp. 1467-1475
-
-
Lam, K.W.G.1
Jiang, P.2
Liao, G.J.W.3
-
67
-
-
0036231537
-
Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study
-
Chiu R.W.K., Lau T.K., Cheung P.T., Gong Z.Q., Leung T.N., Lo Y.M.D. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 2002, 48:778-780.
-
(2002)
Clin Chem
, vol.48
, pp. 778-780
-
-
Chiu, R.W.K.1
Lau, T.K.2
Cheung, P.T.3
Gong, Z.Q.4
Leung, T.N.5
Lo, Y.M.D.6
-
68
-
-
79952302397
-
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
-
[205 e201-211]
-
Ehrich M., Deciu C., Zwiefelhofer T., et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011, 204. [205 e201-211].
-
(2011)
Am J Obstet Gynecol
, vol.204
-
-
Ehrich, M.1
Deciu, C.2
Zwiefelhofer, T.3
-
69
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
Bianchi D.W., Platt L.D., Goldberg J.D., Abuhamad A.Z., Sehnert A.J., Rava R.P. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012, 119:890-901.
-
(2012)
Obstet Gynecol
, vol.119
, pp. 890-901
-
-
Bianchi, D.W.1
Platt, L.D.2
Goldberg, J.D.3
Abuhamad, A.Z.4
Sehnert, A.J.5
Rava, R.P.6
-
70
-
-
84859320067
-
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
-
[322 e321-325]
-
Ashoor G., Syngelaki A., Wagner M., Birdir C., Nicolaides K.H. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012, 206. [322 e321-325].
-
(2012)
Am J Obstet Gynecol
, vol.206
-
-
Ashoor, G.1
Syngelaki, A.2
Wagner, M.3
Birdir, C.4
Nicolaides, K.H.5
-
71
-
-
84870175220
-
Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
-
Jiang F., Ren J., Chen F., et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 2012, 5:57.
-
(2012)
BMC Med Genomics
, vol.5
, pp. 57
-
-
Jiang, F.1
Ren, J.2
Chen, F.3
-
72
-
-
84859363202
-
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
-
Lau T.K., Chen F., Pan X., et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012, 25:1370-1374.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1370-1374
-
-
Lau, T.K.1
Chen, F.2
Pan, X.3
-
73
-
-
84864408781
-
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
[137 e131-138]
-
Norton M.E., Brar H., Weiss J., et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012, 207. [137 e131-138].
-
(2012)
Am J Obstet Gynecol
, vol.207
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
-
74
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
-
Palomaki G.E., Deciu C., Kloza E.M., et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012, 14:296-305.
-
(2012)
Genet Med
, vol.14
, pp. 296-305
-
-
Palomaki, G.E.1
Deciu, C.2
Kloza, E.M.3
-
75
-
-
84859361254
-
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18
-
[319 e311-319]
-
Sparks A.B., Struble C.A., Wang E.T., Song K., Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012, 206. [319 e311-319].
-
(2012)
Am J Obstet Gynecol
, vol.206
-
-
Sparks, A.B.1
Struble, C.A.2
Wang, E.T.3
Song, K.4
Oliphant, A.5
-
76
-
-
84877601474
-
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
-
Liang D., Lv W., Wang H., et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013, 33:409-415.
-
(2013)
Prenat Diagn
, vol.33
, pp. 409-415
-
-
Liang, D.1
Lv, W.2
Wang, H.3
-
77
-
-
84878164024
-
Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
-
Nicolaides K.H., Syngelaki A., Gil M., Atanasova V., Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013, 33:575-579.
-
(2013)
Prenat Diagn
, vol.33
, pp. 575-579
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Gil, M.3
Atanasova, V.4
Markova, D.5
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