-
1
-
-
84878144362
-
Noninvasive prenatal testing: the paradigm is shifting rapidly
-
Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat Diagn 2013;33:511-3.
-
(2013)
Prenat Diagn
, vol.33
, pp. 511-513
-
-
Chitty, L.S.1
Bianchi, D.W.2
-
2
-
-
84924084092
-
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
-
Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, pp. 249-266
-
-
Gil, M.M.1
Quezada, M.S.2
Revello, R.3
-
3
-
-
84939629649
-
640: cell-free DNA screening for fetal aneuploidy
-
Committee Opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126:e31-7.
-
(2015)
Obstet Gynecol
, vol.126
, pp. e31-e37
-
-
Committee Opinion, N.1
-
4
-
-
84931028539
-
Publications committee #36: prenatal aneuploidy screening using cell-free DNA
-
Society for Maternal-Fetal Medicine (SMFM). Publications committee #36: prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol 2015;212:711-6.
-
(2015)
Am J Obstet Gynecol
, vol.212
, pp. 711-716
-
-
-
5
-
-
84938751857
-
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
-
Benn P, Borrell A, Chiu RW, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2015;35:725-34.
-
(2015)
Prenat Diagn
, vol.35
, pp. 725-734
-
-
Benn, P.1
Borrell, A.2
Chiu, R.W.3
-
6
-
-
84926144579
-
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
-
Dondorp W, deWert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet 2015;23:1592, DOI: 10.1038/ejhg.2015.56.
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 1592
-
-
Dondorp, W.1
de Wert, G.2
Bombard, Y.3
-
7
-
-
84877253478
-
ACMG statement on noninvasive prenatal screening for fetal aneuploidy
-
Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15:395-8.
-
(2013)
Genet Med
, vol.15
, pp. 395-398
-
-
Gregg, A.R.1
Gross, S.J.2
Best, R.G.3
-
8
-
-
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;105:16266-16271.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
-
9
-
-
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;105:20458-20463.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 20458-20463
-
-
Chiu, R.W.1
Chan, K.C.2
Gao, Y.3
-
10
-
-
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, 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
-
11
-
-
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, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-1241.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1233-1241
-
-
Zimmermann, B.1
Hill, M.2
Gemelos, G.3
-
12
-
-
84857502701
-
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
-
Sparks AB, Wang ET, Struble CA, 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
-
13
-
-
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
-
14
-
-
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, 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
, pp. 137e1-137e8
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
-
15
-
-
84880043573
-
Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
-
Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013;33:662-666.
-
(2013)
Prenat Diagn
, vol.33
, pp. 662-666
-
-
Wang, E.1
Batey, A.2
Struble, C.3
-
16
-
-
77955255742
-
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
-
Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 2010;5:e10439.
-
(2010)
PLoS One
, vol.5
-
-
Fan, H.C.1
Quake, S.R.2
-
17
-
-
84905233420
-
Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma
-
Benn P, Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014;34:778-83.
-
(2014)
Prenat Diagn
, vol.34
, pp. 778-783
-
-
Benn, P.1
Cuckle, H.2
-
18
-
-
84880035770
-
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
-
Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-74.
-
(2013)
Prenat Diagn
, vol.33
, pp. 667-674
-
-
Canick, J.A.1
Palomaki, G.E.2
Kloza, E.M.3
-
19
-
-
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
-
20
-
-
84859361254
-
Noninvasive 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, et al. 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.e1-319.e9.
-
(2012)
Am J Obstet Gynecol
, vol.206
, pp. 319e1-319e9
-
-
Sparks, A.B.1
Struble, C.A.2
Wang, E.T.3
-
21
-
-
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
, pp. 205e1-20511
-
-
Ehrich, M.1
Deciu, C.2
Zwiefelhofer, T.3
-
22
-
-
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;32:1225-32.
-
(2012)
Prenat Diagn
, vol.32
, pp. 1225-1232
-
-
Dan, S.1
Wang, W.2
Ren, J.3
-
23
-
-
84905093469
-
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
-
Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124(2 Pt 1):210-8.
-
(2014)
Obstet Gynecol
, vol.124
, Issue.2
, pp. 210-218
-
-
Pergament, E.1
Cuckle, H.2
Zimmermann, B.3
-
24
-
-
84908296065
-
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
-
Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211:527.e1-17.
-
(2014)
Am J Obstet Gynecol
, vol.211
, pp. 527e1-52717
-
-
Dar, P.1
Curnow, K.J.2
Gross, S.J.3
-
25
-
-
84862492435
-
Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors
-
Ashoor G, Poon L, Syngelaki A, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther 2012;31:237-43.
-
(2012)
Fetal Diagn Ther
, vol.31
, pp. 237-243
-
-
Ashoor, G.1
Poon, L.2
Syngelaki, A.3
-
26
-
-
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
-
27
-
-
84878120833
-
Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
-
Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569-74.
-
(2013)
Prenat Diagn
, vol.33
, pp. 569-574
-
-
Futch, T.1
Spinosa, J.2
Bhatt, S.3
-
28
-
-
84891792588
-
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X
-
Rava RP, Srinivasan A, Sehnert AJ, et al. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014;60:243-50.
-
(2014)
Clin Chem
, vol.60
, pp. 243-250
-
-
Rava, R.P.1
Srinivasan, A.2
Sehnert, A.J.3
-
29
-
-
84907717938
-
Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100,000 clinical samples
-
McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100, 000 clinical samples. PLoS One 2014;9:e109173.
-
(2014)
PLoS One
, vol.9
-
-
McCullough, R.M.1
Almasri, E.A.2
Guan, X.3
-
30
-
-
84926492837
-
Cell-free DNA analysis for non invasive examination of trisomy
-
Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for non invasive examination of trisomy. N Engl J Med 2015;372:1589-97.
-
(2015)
N Engl J Med
, vol.372
, pp. 1589-1597
-
-
Norton, M.E.1
Jacobsson, B.2
Swamy, G.K.3
-
31
-
-
84938596631
-
Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for non invasive prenatal testing
-
Kinnings SL, Geis JA, Almasri E, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for non invasive prenatal testing. Prenat Diagn 2015;35:816-22.
-
(2015)
Prenat Diagn
, vol.35
, pp. 816-822
-
-
Kinnings, S.L.1
Geis, J.A.2
Almasri, E.3
-
32
-
-
84928494208
-
Use of cell-free DNA to screen for Down's syndrome
-
Chitty LS. Use of cell-free DNA to screen for Down's syndrome. N Engl J Med 2015;372:1666-7.
-
(2015)
N Engl J Med
, vol.372
, pp. 1666-1667
-
-
Chitty, L.S.1
|