-
1
-
-
0029439084
-
Extracellular DNA in the blood of pregnant women [in Russian]
-
Kazakov VI, Bozhkov VM, Linde VA, Repina MA, Mikhaǐlov VM. Extracellular DNA in the blood of pregnant women [in Russian]. Tsitologiia 1995;37:232-6.
-
(1995)
Tsitologiia
, vol.37
, pp. 232-236
-
-
Kazakov, V.I.1
Bozhkov, V.M.2
Linde, V.A.3
Repina, M.A.4
Mikhaǐlov, V.M.5
-
2
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
Redman, C.W.6
-
3
-
-
34547479257
-
ACOG Practice Bulletin No. 77. American College of Obstetricians and Gynecologists
-
Screening for fetal chromosomal abnormalities.
-
Screening for fetal chromosomal abnormalities. ACOG Practice Bulletin No. 77. American College of Obstetricians and Gynecologists. Obstet Gynecol 2007;109:217-27.
-
(2007)
Obstet Gynecol
, vol.109
, pp. 217-227
-
-
-
4
-
-
38449105506
-
ACOG Practice Bulletin No. 88. American College of Obstetricians and Gynecologists
-
Invasive prenatal testing for aneuploidy.
-
Invasive prenatal testing for aneuploidy. ACOG Practice Bulletin No. 88. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2007;110:1459-67.
-
(2007)
Obstet Gynecol.
, vol.110
, pp. 1459-1467
-
-
-
5
-
-
79952302397
-
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
-
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, 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.e1-11.
-
(2011)
Am J Obstet Gynecol
, vol.204
-
-
Ehrich, M.1
Deciu, C.2
Zwiefelhofer, T.3
Tynan, J.A.4
Cagasan, L.5
Tim, R.6
-
6
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
-
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, 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
Lambert-Messerlian, G.M.4
Haddow, J.E.5
Neveux, L.M.6
-
7
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
-
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.
-
(2011)
Genet Med
, vol.13
, pp. 913-920
-
-
Palomaki, G.E.1
Kloza, E.M.2
Lambert-Messerlian, G.M.3
Haddow, J.E.4
Neveux, L.M.5
Ehrich, M.6
-
8
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gyne-col 2012;119:890-901.
-
(2012)
Obstet Gyne-col
, 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
-
9
-
-
79959759113
-
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
-
Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042-9.
-
(2011)
Clin Chem
, vol.57
, pp. 1042-1049
-
-
Sehnert, A.J.1
Rhees, B.2
Comstock, D.3
De Feo, E.4
Heilek, G.5
Burke, J.6
-
10
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
-
Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, 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
Leung, T.Y.4
Sun, H.5
Chan, K.C.6
-
11
-
-
84864408781
-
Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, 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.e1-8.
-
(2012)
Am J Obstet Gynecol
, vol.207
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
Karimi, A.4
Laurent, L.C.5
Caughey, A.B.6
-
12
-
-
84859320067
-
Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
-
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. 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.e1-5.
-
(2012)
Am J Obstet Gynecol
, vol.206
-
-
Ashoor, G.1
Syngelaki, A.2
Wagner, M.3
Birdir, C.4
Nicolaides, K.H.5
-
13
-
-
84871532946
-
Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
-
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 2013;41:21-5.
-
(2013)
Ultrasound Obstet Gynecol
, vol.41
, pp. 21-25
-
-
Ashoor, G.1
Syngelaki, A.2
Wang, E.3
Struble, C.4
Oliphant, A.5
Song, K.6
-
14
-
-
84859361254
-
Non-invasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: Evaluation for trisomy 21 and trisomy 18
-
Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Non-invasive 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.e1-9.
-
(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
-
15
-
-
84880041032
-
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy
-
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn 2013;33:643-9.
-
(2013)
Prenat Diagn
, vol.33
, pp. 643-649
-
-
Samango-Sprouse, C.1
Banjevic, M.2
Ryan, A.3
Sigurjonsson, S.4
Zimmermann, B.5
Hill, M.6
-
16
-
-
84870695892
-
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
-
Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-41.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1233-1241
-
-
Zimmermann, B.1
Hill, M.2
Gemelos, G.3
Demko, Z.4
Banjevic, M.5
Baner, J.6
-
17
-
-
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 KH, 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: 575-9.
-
(2013)
Prenat Diagn
, vol.33
, pp. 575-579
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Gil, M.3
Atanasova, V.4
Markova, D.5
-
18
-
-
84857502701
-
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
-
Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32: 3-9.
-
(2012)
Prenat Diagn
, vol.32
, pp. 3-9
-
-
Sparks, A.B.1
Wang, E.T.2
Struble, C.A.3
Barrett, W.4
Stokowski, R.5
McBride, C.6
-
19
-
-
84879487413
-
Non-invasive prenatal testing for aneuploidy: Current status and future prospects
-
Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
-
(2013)
Ultrasound Obstet Gynecol
, vol.42
, pp. 15-33
-
-
Benn, P.1
Cuckle, H.2
Pergament, E.3
-
20
-
-
84878152406
-
Noninvasive prenatal detection of sex chromosomal aneu-ploidies by sequencing circulating cell-free DNA from maternal plasma
-
Mazloom AR, Džakula Ž, Oeth P, Wang H, Jensen T, Tynan J, et al. Noninvasive prenatal detection of sex chromosomal aneu-ploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33:591-7.
-
(2013)
Prenat Diagn
, vol.33
, pp. 591-597
-
-
Mazloom, A.R.1
Džakula, Ž.2
Oeth, P.3
Wang, H.4
Jensen, T.5
Tynan, J.6
-
21
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, et al. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 2009;41:1061-7.
-
(2009)
Nat Genet
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
Kidd, J.M.2
Marques-Bonet, T.3
Aksay, G.4
Antonacci, F.5
Hormozdiari, F.6
-
22
-
-
52649157765
-
Substantial biases in ultra-short read data sets from high-throughput DNA sequencing
-
Dohm JC, Lottaz C, Borodina T, Himmelbauer H. Substantial biases in ultra-short read data sets from high-throughput DNA sequencing. Nucleic Acids Res 2008;36:e105.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Dohm, J.C.1
Lottaz, C.2
Borodina, T.3
Himmelbauer, H.4
-
23
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, 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
Akolekar, R.4
Chan, K.C.5
Leung, T.Y.6
-
25
-
-
84868029481
-
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
-
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.
-
(2012)
Am J Obstet Gynecol
, vol.207
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Ashoor, G.3
Birdir, C.4
Touzet, G.5
-
26
-
-
0038271975
-
Cell-free fetal DNA in maternal circulation after amniocentesis
-
Samura O, Miharu N, Hyodo M, Honda H, Ohashi Y, Honda N, et al. Cell-free fetal DNA in maternal circulation after amniocentesis. Clin Chem 2003;49:1193-5.
-
(2003)
Clin Chem
, vol.49
, pp. 1193-1195
-
-
Samura, O.1
Miharu, N.2
Hyodo, M.3
Honda, H.4
Ohashi, Y.5
Honda, N.6
-
27
-
-
77950646369
-
Circulating cell-free DNA levels increase variably following chorionic villus sampling
-
Vora NL, Johnson KL, Peter I, Tighiouart H, Ralston SJ, Craigo SD, et al. Circulating cell-free DNA levels increase variably following chorionic villus sampling. Prenat Diagn 2010; 30:325-8.
-
(2010)
Prenat Diagn
, vol.30
, pp. 325-328
-
-
Vora, N.L.1
Johnson, K.L.2
Peter, I.3
Tighiouart, H.4
Ralston, S.J.5
Craigo, S.D.6
-
28
-
-
84896698058
-
Assessment of fetal sex chromosome aneuploidy using Directed cell-free DNA analysis
-
Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM. Assessment of fetal sex chromosome aneuploidy using Directed cell-free DNA analysis. Fetal Diagn Ther 2014;35:1-6.
-
(2014)
Fetal Diagn Ther
, vol.35
, pp. 1-6
-
-
Nicolaides, K.H.1
Musci, T.J.2
Struble, C.A.3
Syngelaki, A.4
Gil, M.M.5
-
30
-
-
84879498242
-
Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies
-
Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42:34-40.
-
(2013)
Ultrasound Obstet Gynecol
, vol.42
, pp. 34-40
-
-
Gil, M.M.1
Quezada, M.S.2
Bregant, B.3
Ferraro, M.4
Nicolaides, K.H.5
-
31
-
-
84905091660
-
A single center's experience with noninvasive prenatal testing
-
doi: 10.1038/gim.2014.20 [Epub ahead of print]
-
Beamon CJ, Hardisty EE, Harris SC, Vora NL. A single center's experience with noninvasive prenatal testing. Genet Med 2014; doi: 10.1038/gim.2014.20 [Epub ahead of print].
-
(2014)
Genet Med
-
-
Beamon, C.J.1
Hardisty, E.E.2
Harris, S.C.3
Vora, N.L.4
-
32
-
-
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, Li Y, Hu H, Xu Z, 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;32:1225-32.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1225-1232
-
-
Dan, S.1
Wang, W.2
Ren, J.3
Li, Y.4
Hu, H.5
Xu, Z.6
-
33
-
-
84866370851
-
Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience
-
Lau TK, Chan MK, Lo PS, Chan HY, Chan WS, Koo TY, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test-early experience. J Matern Fetal Neonatal Med 2012;25:1856-9.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1856-1859
-
-
Lau, T.K.1
Chan, M.K.2
Lo, P.S.3
Chan, H.Y.4
Chan, W.S.5
Koo, T.Y.6
-
34
-
-
84880038440
-
Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
-
Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013;33:700-6.
-
(2013)
Prenat Diagn
, vol.33
, pp. 700-706
-
-
Song, Y.1
Liu, C.2
Qi, H.3
Zhang, Y.4
Bian, X.5
Liu, J.6
-
35
-
-
84873257075
-
Fetal aneuploidy screening by maternal plasma DNA sequencing: "false positive" due to confined placental mosaicism
-
Choi H, Lau TK, Jiang FM, Chan MK Zhang HY, Lo PS, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: "false positive" due to confined placental mosaicism. Prenat Diagn 2013;33:198-200.
-
(2013)
Prenat Diagn
, vol.33
, pp. 198-200
-
-
Choi, H.1
Lau, T.K.2
Jiang, F.M.3
Chan, M.K.4
Zhang, H.Y.5
Lo, P.S.6
-
36
-
-
84905571246
-
The role of feto-placental mosacism in false positive and false negative non-invasive prenatal screening (NIPS) results
-
doi: 10.1038/gim.2014.3 [Epub ahead of print]
-
Grati FR Malvestiti F, Ferreira JCPB, Bajaj K Gaetani E, Agrati C, et al. The role of feto-placental mosacism in false positive and false negative non-invasive prenatal screening (NIPS) results. Genet Med 2014; doi: 10.1038/gim.2014.3 [Epub ahead of print].
-
(2014)
Genet Med
-
-
Grati, F.R.1
Malvestiti, F.2
Ferreira, J.C.P.B.3
Bajaj, K.4
Gaetani, E.5
Agrati, C.6
-
37
-
-
0027363265
-
Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis
-
Harrison KJ, Barrett IJ, Lomax BL, Kuchinka BD, Kalousek DK Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis. Hum Genet 1993;92:353-8.
-
(1993)
Hum Genet
, vol.92
, pp. 353-358
-
-
Harrison, K.J.1
Barrett, I.J.2
Lomax, B.L.3
Kuchinka, B.D.4
Kalousek, D.K.5
-
38
-
-
0024596935
-
Placental mosaicism and intrauterine survival of trisomies 13 and 18
-
Kalousek DK Barrett IJ, McGillivray BC. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 1989;44:338-43.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 338-343
-
-
Kalousek, D.K.1
Barrett, I.J.2
McGillivray, B.C.3
-
39
-
-
0035061631
-
A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies
-
Schuring-Blom GH, Boer K Leschot NJ. A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Eur J Hum Genet 2001;9:286-90.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 286-290
-
-
Schuring-Blom, G.H.1
Boer, K.2
Leschot, N.J.3
-
40
-
-
0030941126
-
European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
-
Hahnemann JM, Vejerslev LO. European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. AmJ Med Genet 1997;70:179-87.
-
(1997)
AmJ Med Genet
, vol.70
, pp. 179-187
-
-
Hahnemann, J.M.1
Vejerslev, L.O.2
|