-
1
-
-
84870676691
-
-
Statistics NBo. The population change of China in [WWW document]. URL [accessed on 18 January 2012].
-
Statistics NBo. The population change of China in 2011 [WWW document]. URL http://www.gov.cn/gzdt/2012-01/18/content_2047892.htm [accessed on 18 January 2012].
-
(2011)
-
-
-
2
-
-
84870711951
-
-
Health CsMo. Report on Women and Children's Health Development in China [WWW document]. URL [accessed on 21 September 2011].
-
Health CsMo. Report on Women and Children's Health Development in China [WWW document]. URL http://www.gov.cn/gzdt/2011-09/21/content_1952953.htm [accessed on 21 September 2011].
-
-
-
-
3
-
-
81755182911
-
Birth defects surveillance in China
-
Dai L, Zhu J, Liang J, et al. Birth defects surveillance in China. World J Pediatr 2011;7:302-10.
-
(2011)
World J Pediatr
, vol.7
, pp. 302-310
-
-
Dai, L.1
Zhu, J.2
Liang, J.3
-
4
-
-
84856678436
-
Pregnancy outcome following mid-trimester amniocentesis
-
Corrado F, Cannata ML, La Galia T, et al. Pregnancy outcome following mid-trimester amniocentesis. J Obstet Gynaecol 2012;32:117-9.
-
(2012)
J Obstet Gynaecol
, vol.32
, pp. 117-119
-
-
Corrado, F.1
Cannata, M.L.2
La Galia, T.3
-
5
-
-
84871647221
-
Fetal Loss Rate and Associated Risk Factors After Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling
-
Epub ahead of print]
-
Enzensberger C, Pulvermacher C, Degenhardt J, et al. Fetal Loss Rate and Associated Risk Factors After Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling. Ultraschall Med 2012. [Epub ahead of print].
-
(2012)
Ultraschall Med
-
-
Enzensberger, C.1
Pulvermacher, C.2
Degenhardt, J.3
-
6
-
-
84881609436
-
Procedure-Related Complications after Genetic Amniocentesis and Chorionic Villus Sampling
-
Epub ahead of print]
-
Kollmann M, Haeusler M, Haas J, et al. Procedure-Related Complications after Genetic Amniocentesis and Chorionic Villus Sampling. Ultraschall Med 2012. [Epub ahead of print].
-
(2012)
Ultraschall Med
-
-
Kollmann, M.1
Haeusler, M.2
Haas, J.3
-
7
-
-
80054004932
-
Implementation of One-Stop-Clinic for Risk Assessment of chromosomal abnormalities in the first trimester, evaluating the effectiveness and making it part of our daily practice
-
Dhaifalah I, Dusek L, Santavy J. Implementation of One-Stop-Clinic for Risk Assessment of chromosomal abnormalities in the first trimester, evaluating the effectiveness and making it part of our daily practice. Ceska Gynekol 2011;76:292-306.
-
(2011)
Ceska Gynekol
, vol.76
, pp. 292-306
-
-
Dhaifalah, I.1
Dusek, L.2
Santavy, J.3
-
8
-
-
84860460215
-
First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free beta-hCG and PAPP-A: a 5-year prospective study
-
Ghaffari SR, Tahmasebpour AR, Jamal A, et al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free beta-hCG and PAPP-A: a 5-year prospective study. Ultrasound Obstet Gynecol 2012;39:528-34.
-
(2012)
Ultrasound Obstet Gynecol
, vol.39
, pp. 528-534
-
-
Ghaffari, S.R.1
Tahmasebpour, A.R.2
Jamal, A.3
-
9
-
-
84867413876
-
Prenatal screening for trisomy 21: recent advances and guidelines
-
Canick J. Prenatal screening for trisomy 21: recent advances and guidelines. Clin Chem Lab Med 2011; 50:1003-8.
-
(2011)
Clin Chem Lab Med
, vol.50
, pp. 1003-1008
-
-
Canick, J.1
-
10
-
-
84861482109
-
The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008
-
Morris JK, Waters JJ, de Souza E. The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008. Prenat Diagn 2012;32:596-601.
-
(2012)
Prenat Diagn
, vol.32
, pp. 596-601
-
-
Morris, J.K.1
Waters, J.J.2
de Souza, E.3
-
11
-
-
37349058851
-
Maternal urine for prenatal diagnosis--an analysis of cell-free fetal DNA in maternal urine and plasma in the third trimester
-
Majer S, Bauer M, Magnet E, et al. Maternal urine for prenatal diagnosis--an analysis of cell-free fetal DNA in maternal urine and plasma in the third trimester. Prenat Diagn 2007;27:1219-23.
-
(2007)
Prenat Diagn
, vol.27
, pp. 1219-1223
-
-
Majer, S.1
Bauer, M.2
Magnet, E.3
-
12
-
-
80051564369
-
Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis
-
Devaney SA, Palomaki GE, Scott JA, et al. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011;306:627-36.
-
(2011)
JAMA
, vol.306
, pp. 627-636
-
-
Devaney, S.A.1
Palomaki, G.E.2
Scott, J.A.3
-
13
-
-
34548727890
-
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
-
Lo YM, Lun FM, Chan KC, et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 2007;104:13116-21.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 13116-13121
-
-
Lo, Y.M.1
Lun, F.M.2
Chan, K.C.3
-
14
-
-
28044449568
-
Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms
-
Tsui NB, Chiu RW, Ding C, et al. Detection of trisomy 21 by quantitative mass spectrometric analysis of single-nucleotide polymorphisms. Clin Chem 2005;51:2358-62.
-
(2005)
Clin Chem
, vol.51
, pp. 2358-2362
-
-
Tsui, N.B.1
Chiu, R.W.2
Ding, C.3
-
15
-
-
33845522324
-
Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations
-
Tong YK, Ding C, Chiu RW, et al. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations. Clin Chem 2006;52:2194-202.
-
(2006)
Clin Chem
, vol.52
, pp. 2194-2202
-
-
Tong, Y.K.1
Ding, C.2
Chiu, R.W.3
-
16
-
-
33846903851
-
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
-
Lo YM, Tsui NB, Chiu RW, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007;13:218-23.
-
(2007)
Nat Med
, vol.13
, pp. 218-223
-
-
Lo, Y.M.1
Tsui, N.B.2
Chiu, R.W.3
-
17
-
-
79953739378
-
Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21
-
Papageorgiou EA, Karagrigoriou A, Tsaliki E, et al. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med 2011;17:510-3.
-
(2011)
Nat Med
, vol.17
, pp. 510-513
-
-
Papageorgiou, E.A.1
Karagrigoriou, A.2
Tsaliki, E.3
-
18
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu RW, Chan KC, 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 U S A 2008;105:20458-63.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.1
Chan, K.C.2
Gao, Y.3
-
19
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 2008;105:16266-71.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
-
20
-
-
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, 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
-
21
-
-
78751683468
-
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study
-
Chiu RW, Akolekar R, Zheng YW, 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
-
22
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
-
Palomaki GE, Kloza EM, Lambert-Messerlian GM, 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
-
23
-
-
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, et al. 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
-
24
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen EZ, Chiu RW, 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
-
25
-
-
84859363202
-
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
-
Lau TK, 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;25:1370-4.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1370-1374
-
-
Lau, T.K.1
Chen, F.2
Pan, X.3
-
26
-
-
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, 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
-
27
-
-
84866370851
-
Clinical utility of noninvasive fetal trisomy (NIFTY) test - early experience
-
Lau TK, Chan MK, Salome Lo PS, et al. Clinical utility of noninvasive fetal trisomy (NIFTY) test - early experience. J Matern Fetal Neonatal Med 2012;25(10):1856-9.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, Issue.10
, pp. 1856-1859
-
-
Lau, T.K.1
Chan, M.K.2
Salome Lo, P.S.3
-
28
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
Bianchi DW, Platt LD, Goldberg JD, et al. 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
-
29
-
-
84862992185
-
Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in morocco
-
Aboussair N, Jaouad IC, Dequaqui SC, et al. Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in morocco. Genet Test Mol Biomarkers 2012;16:569-73.
-
(2012)
Genet Test Mol Biomarkers
, vol.16
, pp. 569-573
-
-
Aboussair, N.1
Jaouad, I.C.2
Dequaqui, S.C.3
-
30
-
-
79960700536
-
Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade
-
Mademont-Soler I, Morales C, Clusellas N, et al. Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade. Eur J Obstet Gynecol Reprod Biol 2011;157:156-60.
-
(2011)
Eur J Obstet Gynecol Reprod Biol
, vol.157
, pp. 156-160
-
-
Mademont-Soler, I.1
Morales, C.2
Clusellas, N.3
-
31
-
-
33846421941
-
First-trimester combined screening for trisomy 21 in a predominantly Chinese population
-
Leung TY, Chan LW, Leung TN, et al. First-trimester combined screening for trisomy 21 in a predominantly Chinese population. Ultrasound Obstet Gynecol 2007;29:14-7.
-
(2007)
Ultrasound Obstet Gynecol
, vol.29
, pp. 14-17
-
-
Leung, T.Y.1
Chan, L.W.2
Leung, T.N.3
-
32
-
-
84870370185
-
Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection
-
Deans Z, Newson AJ. Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection. J Med Ethics 2012;38(10):614-8.
-
(2012)
J Med Ethics
, vol.38
, Issue.10
, pp. 614-618
-
-
Deans, Z.1
Newson, A.J.2
-
34
-
-
79960597679
-
An integrated semiconductor device enabling non-optical genome sequencing
-
Rothberg JM, Hinz W, Rearick TM, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature 2011;475:348-52.
-
(2011)
Nature
, vol.475
, pp. 348-352
-
-
Rothberg, J.M.1
Hinz, W.2
Rearick, T.M.3
-
35
-
-
84863574483
-
Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma
-
Jensen TJ, Dzakula Z, Deciu C, et al. Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma. Clin Chem 2012;58:1148-51.
-
(2012)
Clin Chem
, vol.58
, pp. 1148-1151
-
-
Jensen, T.J.1
Dzakula, Z.2
Deciu, C.3
-
36
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
Lo YM, Chan KC, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
-
(2010)
Sci Transl Med
, vol.2
-
-
Lo, Y.M.1
Chan, K.C.2
Sun, H.3
-
38
-
-
80053317610
-
Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous alpha-thalassemia in maternal plasma
-
Yan TZ, Mo QH, Cai R, et al. Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous alpha-thalassemia in maternal plasma. PLoS One 2011;6:e24779.
-
(2011)
PLoS One
, vol.6
-
-
Yan, T.Z.1
Mo, Q.H.2
Cai, R.3
|