-
1
-
-
22244465516
-
Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: A cytogenetic risk assessment
-
Caine A, Maltby AE, Parkin CA, Waters JJ, Crolla JA: Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005; 366: 123-128.
-
(2005)
Lancet
, vol.366
, pp. 123-128
-
-
Caine, A.1
Maltby, A.E.2
Parkin, C.A.3
Waters, J.J.4
Crolla, J.A.5
-
3
-
-
0141863495
-
First-trimester screening for trisomies 21 and 18
-
Wapner R, Thom E, Simpson JL et al: First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349: 1405-1413.
-
(2003)
N Engl J Med
, vol.349
, pp. 1405-1413
-
-
Wapner, R.1
Thom, E.2
Simpson, J.L.3
-
4
-
-
78650041666
-
NEQAS: National External Quality Assessment Scheme in clinical cytogenetics
-
NEQAS: National External Quality Assessment Scheme in clinical cytogenetics. Annu Rep 2000.
-
(2000)
Annu Rep
-
-
-
5
-
-
41949130391
-
Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome
-
Boyd PA, Devigan C, Khoshnood B, Loane M, Garne E, Dolk H: Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008; 115: 689-696.
-
(2008)
BJOG
, vol.115
, pp. 689-696
-
-
Boyd, P.A.1
Devigan, C.2
Khoshnood, B.3
Loane, M.4
Garne, E.5
Dolk, H.6
-
6
-
-
78650061761
-
NSC: Fetal Anomaly Screening Programme - Screening for Down's Syndrome: UK NSC Policy recommendations 2007-2010
-
UK: Department of Health
-
NSC: Fetal Anomaly Screening Programme - Screening for Down's Syndrome: UK NSC Policy recommendations 2007-2010: Model of Best Practice. UK: Department of Health, 2008.
-
(2008)
Model of Best Practice
-
-
-
7
-
-
33845942655
-
ACOG Practice Bulletin No 77: Screening for fetal chromosomal abnormalities
-
ACOG Committee on Practice Bulletins
-
ACOG Committee on Practice Bulletins: ACOG Practice Bulletin No 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007; 109: 217-227.
-
(2007)
Obstet Gynecol
, vol.109
, pp. 217-227
-
-
-
9
-
-
0032751941
-
Trends in cytogenetic prenatal diagnosis in the UK: Results from UKNEQAS external audit, 1987-1998
-
Waters JJ, Waters KS: Trends in cytogenetic prenatal diagnosis in the UK: results from UKNEQAS external audit, 1987-1998. Prenat Diagn 1999; 19: 1023-1026.
-
(1999)
Prenat Diagn
, vol.19
, pp. 1023-1026
-
-
Waters, J.J.1
Waters, K.S.2
-
10
-
-
19944407550
-
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples
-
Cirigliano V, Voglino G, Canadas MP et al: Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004; 10: 839-846.
-
(2004)
Mol Hum Reprod
, vol.10
, pp. 839-846
-
-
Cirigliano, V.1
Voglino, G.2
Canadas, M.P.3
-
11
-
-
0141613852
-
Rapid and simple prenatal diagnosis of common chromosome disorders: Advantages and disadvantages of the molecular methods FISH and QF-PCR
-
Hulten MA, Dhanjal S, Pertl B: Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 2003; 126: 279-297.
-
(2003)
Reproduction
, vol.126
, pp. 279-297
-
-
Hulten, M.A.1
Dhanjal, S.2
Pertl, B.3
-
12
-
-
7744225371
-
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
-
Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM: Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004; 12: 907-915.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 907-915
-
-
Mann, K.1
Donaghue, C.2
Fox, S.P.3
Docherty, Z.4
Ogilvie, C.M.5
-
13
-
-
0032482683
-
Rapid and simple prenatal DNA diagnosis of Down's syndrome
-
Verma L, Macdonald F, Leedham P, McConachie M, Dhanjal S, Hulten M: Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet 1998; 352: 9-12.
-
(1998)
Lancet
, vol.352
, pp. 9-12
-
-
Verma, L.1
MacDonald, F.2
Leedham, P.3
McConachie, M.4
Dhanjal, S.5
Hulten, M.6
-
14
-
-
33947237911
-
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
-
Shaffer LG, Bui TH: Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007; 145C: 87-98.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 87-98
-
-
Shaffer, L.G.1
Bui, T.H.2
-
15
-
-
0038207040
-
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities
-
Grimshaw GM, Szczepura A, Hulten M et al: Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess 2003; 7: 1-146.
-
(2003)
Health Technol Assess
, vol.7
, pp. 1-146
-
-
Grimshaw, G.M.1
Szczepura, A.2
Hulten, M.3
-
16
-
-
0032951503
-
International, collaborative assessment of 146,000 prenatal karyotypes: Expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used
-
Evans MI, Henry GP, Miller WA et al: International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 1999; 14: 1213-1216.
-
(1999)
Hum Reprod
, vol.14
, pp. 1213-1216
-
-
Evans, M.I.1
Henry, G.P.2
Miller, W.A.3
-
17
-
-
0035968604
-
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
-
Mann K, Fox SP, Abbs SJ et al: Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 2001; 358: 1057-1061.
-
(2001)
Lancet
, vol.358
, pp. 1057-1061
-
-
Mann, K.1
Fox, S.P.2
Abbs, S.J.3
-
18
-
-
68849103694
-
Karyotyping or rapid aneuploidy detection in prenatal diagnosis - The different views of users and providers of prenatal care
-
Boormans EM, Birnie E, Bilardo CM, Oepkes D, Bonsel GJ, Van Lith JM: Karyotyping or rapid aneuploidy detection in prenatal diagnosis- The different views of users and providers of prenatal care. BJOG 2009; 116: 1396-1399.
-
(2009)
BJOG
, vol.116
, pp. 1396-1399
-
-
Boormans, E.M.1
Birnie, E.2
Bilardo, C.M.3
Oepkes, D.4
Bonsel, G.J.5
Van Lith, J.M.6
-
20
-
-
0034520328
-
Technical and clinical assessment of fluorescence in situ hybridization: An ACMG/ASHG position statement. I. Technical considerations
-
Test and Technology Transfer Committee
-
Test and Technology Transfer Committee: Technical and clinical assessment of fluorescence in situ hybridization: an ACMG/ASHG position statement. I. Technical considerations. Genet Med 2000; 2: 356-361.
-
(2000)
Genet Med
, vol.2
, pp. 356-361
-
-
-
21
-
-
0034042125
-
An assessment of the use of interphase FISH with chromosome specific probes as an alternative to cytogenetics in prenatal diagnosis
-
Thein AT, Abdel-Fattah SA, Kyle PM, Soothill PW: An assessment of the use of interphase FISH with chromosome specific probes as an alternative to cytogenetics in prenatal diagnosis. Prenat Diagn 2000; 20: 275-280.
-
(2000)
Prenat Diagn
, vol.20
, pp. 275-280
-
-
Thein, A.T.1
Abdel-Fattah, S.A.2
Kyle, P.M.3
Soothill, P.W.4
-
22
-
-
0033983677
-
Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation
-
Thilaganathan B, Sairam S, Ballard T, Peterson C, Meredith R: Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation. BJOG 2000; 107: 262-266.
-
(2000)
BJOG
, vol.107
, pp. 262-266
-
-
Thilaganathan, B.1
Sairam, S.2
Ballard, T.3
Peterson, C.4
Meredith, R.5
-
23
-
-
33749470608
-
Sequential and contingent prenatal screening for Down syndrome
-
Wald NJ, Rudnicka AR, Bestwick JP: Sequential and contingent prenatal screening for Down syndrome. Prenat Diagn 2006; 26: 769-777.
-
(2006)
Prenat Diagn
, vol.26
, pp. 769-777
-
-
Wald, N.J.1
Rudnicka, A.R.2
Bestwick, J.P.3
-
24
-
-
23244454757
-
Cost-effectiveness analysis of prenatal diagnosis: Methodological issues and concerns
-
Caughey AB: Cost-effectiveness analysis of prenatal diagnosis: methodological issues and concerns. Gynecol Obstet Invest 2005; 60: 11-18.
-
(2005)
Gynecol Obstet Invest
, vol.60
, pp. 11-18
-
-
Caughey, A.B.1
-
25
-
-
61849085113
-
Comparison of different strategies in prenatal screening for Down's syndrome: Cost effectiveness analysis of computer simulation
-
Gekas J, Gagne G, Bujold E et al: Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation. BMJ 2009; 338: b138.
-
(2009)
BMJ
, vol.338
-
-
Gekas, J.1
Gagne, G.2
Bujold, E.3
-
26
-
-
0037704145
-
First and second trimester antenatal screening for Down's syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS)
-
Wald NJ, RodeckC, Hackshaw AK, Walters J, Chitty L, Mackinson AM: First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003; 10: 56-104.
-
(2003)
J Med Screen
, vol.10
, pp. 56-104
-
-
Wald, N.J.1
Rodeck, C.2
Hackshaw, A.K.3
Walters, J.4
Chitty, L.5
MacKinson, A.M.6
-
28
-
-
0344672354
-
Fetal loss in Down syndrome pregnancies
-
Snijders R: Fetal loss in Down syndrome pregnancies. Prenat Diagn 1999; 19: 1180.
-
(1999)
Prenat Diagn
, vol.19
, pp. 1180
-
-
Snijders, R.1
-
29
-
-
0034810253
-
What is the true fetal loss rate in pregnancies affected by trisomy 21 and how does this influence whether first trimester detection rates are superior to those in the second trimester?
-
Spencer K: What is the true fetal loss rate in pregnancies affected by trisomy 21 and how does this influence whether first trimester detection rates are superior to those in the second trimester? Prenat Diagn 2001; 21: 788-789.
-
(2001)
Prenat Diagn
, vol.21
, pp. 788-789
-
-
Spencer, K.1
-
30
-
-
33744926156
-
Correction to SURUSS report
-
Wald N Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM, Bestwick JP: Correction to SURUSS report. J Med Screen 2006; 13: 51-52.
-
(2006)
J Med Screen
, vol.13
, pp. 51-52
-
-
Wald Rodeck N, C.1
Hackshaw, A.K.2
Walters, J.3
Chitty, L.4
MacKinson, A.M.5
Bestwick, J.P.6
-
31
-
-
27744477773
-
First-trimester or second-trimester screening, or both, for Down's syndrome
-
Malone FD, Canick JA, Ball RH et al: First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med2005; 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
-
32
-
-
0036126106
-
The effect of fast reporting by amnio-PCR on anxiety levels in women with positive biochemical screening for Down syndrome-a randomized controlled trial
-
Leung WC, Lam YH, Wong Y, Lau ET, Tang MH: The effect of fast reporting by amnio-PCR on anxiety levels in women with positive biochemical screening for Down syndrome-a randomized controlled trial. Prenat Diagn 2002; 22: 256-259.
-
(2002)
Prenat Diagn
, vol.22
, pp. 256-259
-
-
Leung, W.C.1
Lam, Y.H.2
Wong, Y.3
Lau, E.T.4
Tang, M.H.5
-
33
-
-
33644777447
-
Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: Observational study
-
Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH: Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 2006; 332: 452-455.
-
(2006)
BMJ
, vol.332
, pp. 452-455
-
-
Chitty, L.S.1
Kagan, K.O.2
Molina, F.S.3
Waters, J.J.4
Nicolaides, K.H.5
-
34
-
-
56249097606
-
Costs of prenatal genetic screening
-
Buckley F, Buckley SJ: Costs of prenatal genetic screening. Lancet 2008; 372: 1789-1791.
-
(2008)
Lancet
, vol.372
, pp. 1789-1791
-
-
Buckley, F.1
Buckley, S.J.2
-
36
-
-
15944409220
-
Multicenter study of firsttrimester screening for trisomy 21 in 75 821 pregnancies: Results and estimation of the potential impact of individual risk-orientated twostage first-trimester screening
-
Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O: Multicenter study of firsttrimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated twostage first-trimester screening. Ultrasound Obstet Gynecol 2005; 25: 221-226.
-
(2005)
Ultrasound Obstet Gynecol
, vol.25
, pp. 221-226
-
-
Nicolaides, K.H.1
Spencer, K.2
Avgidou, K.3
Faiola, S.4
Falcon, O.5
-
37
-
-
0030846081
-
Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling
-
Sundberg K, Bang J, Smidt-Jensen S et al: Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet 1997; 350: 697-703.
-
(1997)
Lancet
, vol.350
, pp. 697-703
-
-
Sundberg, K.1
Bang, J.2
Smidt-Jensen, S.3
-
38
-
-
0026574505
-
Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
-
Jacobs PA, Browne C, Gregson N, Joyce C, White H: Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992; 29: 103-108.
-
(1992)
J Med Genet
, vol.29
, pp. 103-108
-
-
Jacobs, P.A.1
Browne, C.2
Gregson, N.3
Joyce, C.4
White, H.5
-
39
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A et al: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999; 354: 1676-1681.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
-
40
-
-
77952032690
-
AradhyaS etal: Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, AradhyaS etal: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
-
41
-
-
44649102696
-
Fitting observed and theoretical choices - Women's choices about prenatal diagnosis of Down syndrome
-
Seror V: Fitting observed and theoretical choices - women's choices about prenatal diagnosis of Down syndrome. Health Econ 2008; 17: 557-577.
-
(2008)
Health Econ
, vol.17
, pp. 557-577
-
-
Seror, V.1
-
42
-
-
0033549839
-
Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters
-
Wald NJ, Watt HC, Hackshaw AK: Integrated screening for Down's syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999; 341: 461-467.
-
(1999)
N Engl J Med
, vol.341
, pp. 461-467
-
-
Wald, N.J.1
Watt, H.C.2
Hackshaw, A.K.3
-
43
-
-
85056249957
-
FISH analysis for fetal karyotype : What are the factors associated with its failure?
-
Faucher E, Bujold E, Brassard N, Himaya E, Gekas J: FISH analysis for fetal karyotype : what are the factors associated with its failure? Prenat Diagn 2008; 28: S27.
-
(2008)
Prenat Diagn
, vol.28
-
-
Faucher, E.1
Bujold, E.2
Brassard, N.3
Himaya, E.4
Gekas, J.5
-
44
-
-
78650037310
-
Cost of integrated, sequential and contingent prenatal screening for Down's syndrome
-
e-pub ahead of print 2 April 2009
-
Bestwick JP, Wald N, Rudnicka AR: Cost of integrated, sequential and contingent prenatal screening for Down's syndrome. BMJ 2009; e-pub ahead of print 2 April 2009.
-
(2009)
BMJ
-
-
Bestwick, J.P.1
Wald, N.2
Rudnicka, A.R.3
-
45
-
-
0017316806
-
Midtrimester amniocentesis for prenatal diagnosis: Safety and accuracy
-
Midtrimester amniocentesis for prenatal diagnosis: Safety and accuracy. JAMA 1976; 236:1471-1476.
-
(1976)
JAMA
, vol.236
, pp. 1471-1476
-
-
-
47
-
-
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
-
48
-
-
76449093190
-
Update on procedure-related risks for prenatal diagnosis techniques
-
Tabor A, Alfirevic Z: Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2009; 27: 1-7.
-
(2009)
Fetal Diagn Ther
, vol.27
, pp. 1-7
-
-
Tabor, A.1
Alfirevic, Z.2
-
49
-
-
67650258731
-
Fetal loss rate after chorionic villus sampling and amniocentesis: An 11-year national registry study
-
Tabor A, Vestergaard CH, Lidegaard O: Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 2009; 34: 19-24.
-
(2009)
Ultrasound Obstet Gynecol
, vol.34
, pp. 19-24
-
-
Tabor, A.1
Vestergaard, C.H.2
Lidegaard, O.3
|