-
1
-
-
84878148957
-
The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: challenges and progress made
-
Lench N, Barrett A, Fielding S, et al. The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: challenges and progress made. Prenat Diagn 2013;33(6):555–62.
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 555-562
-
-
Lench, N.1
Barrett, A.2
Fielding, S.3
-
2
-
-
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 2010;27(1):1–7.
-
(2010)
Fetal Diagn Ther
, vol.27
, Issue.1
, pp. 1-7
-
-
Tabor, A.1
Alfirevic, Z.2
-
3
-
-
84896717065
-
Non-invasive prenatal diagnosis for single gene disorders: experience of patients
-
Lewis C, Hill M, Chitty LS. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet 2014;85(4):336–42.
-
(2014)
Clin Genet
, vol.85
, Issue.4
, pp. 336-342
-
-
Lewis, C.1
Hill, M.2
Chitty, L.S.3
-
4
-
-
84911987311
-
Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis
-
Hill M, Compton C, Karunaratna M, et al. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. J Genet Couns 2014;23(6):1012–21.
-
(2014)
J Genet Couns
, vol.23
, Issue.6
, pp. 1012-1021
-
-
Hill, M.1
Compton, C.2
Karunaratna, M.3
-
5
-
-
84943352142
-
Preferences for prenatal tests for cystic fibrosis: a discrete choice experiment to compare the views of adult patients, carriers of cystic fibrosis and health professionals
-
Hill M, Suri R, Nash E, et al. Preferences for prenatal tests for cystic fibrosis: a discrete choice experiment to compare the views of adult patients, carriers of cystic fibrosis and health professionals. J Clin Med 2014;3(1):176–90.
-
(2014)
J Clin Med
, vol.3
, Issue.1
, pp. 176-190
-
-
Hill, M.1
Suri, R.2
Nash, E.3
-
6
-
-
84937512649
-
An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders
-
Skirton H, Goldsmith L, Chitty LS. An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders. Eur J Hum Genet 2015;23(8):1004–9.
-
(2015)
Eur J Hum Genet
, vol.23
, Issue.8
, pp. 1004-1009
-
-
Skirton, H.1
Goldsmith, L.2
Chitty, L.S.3
-
7
-
-
84879463003
-
Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom
-
Hill M, Karunaratna M, Lewis C, et al. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet A 2013; 161A(7):1612–8.
-
(2013)
Am J Med Genet A
, vol.161
, Issue.7
, pp. 1612-1618
-
-
Hill, M.1
Karunaratna, M.2
Lewis, C.3
-
8
-
-
79951937731
-
New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma
-
Chitty LS, Griffin DR, Meaney C, et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 2011;37(3):283–9.
-
(2011)
Ultrasound Obstet Gynecol
, vol.37
, Issue.3
, pp. 283-289
-
-
Chitty, L.S.1
Griffin, D.R.2
Meaney, C.3
-
9
-
-
84933673322
-
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
-
Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn 2015;35(7):656–62.
-
(2015)
Prenat Diagn
, vol.35
, Issue.7
, pp. 656-662
-
-
Chitty, L.S.1
Mason, S.2
Barrett, A.N.3
-
10
-
-
0036231537
-
Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study
-
Chiu RW, Lau TK, Cheung PT, et al. Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 2002;48(5):778–80.
-
(2002)
Clin Chem
, vol.48
, Issue.5
, pp. 778-780
-
-
Chiu, R.W.1
Lau, T.K.2
Cheung, P.T.3
-
11
-
-
0036797932
-
Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma
-
Gonzalez-Gonzalez MC, Garcia-Hoyos M, Trujillo MJ, et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn 2002;22(10):946–8.
-
(2002)
Prenat Diagn
, vol.22
, Issue.10
, pp. 946-948
-
-
Gonzalez-Gonzalez, M.C.1
Garcia-Hoyos, M.2
Trujillo, M.J.3
-
12
-
-
78650974626
-
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases
-
Galbiati S, Brisci A, Lalatta F, et al. Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases. Clin Chem 2011;57(1):136–8.
-
(2011)
Clin Chem
, vol.57
, Issue.1
, pp. 136-138
-
-
Galbiati, S.1
Brisci, A.2
Lalatta, F.3
-
13
-
-
54049132561
-
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
-
Lun FM, Chiu RW, Allen Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem 2008;54(10):1664–72.
-
(2008)
Clin Chem
, vol.54
, Issue.10
, pp. 1664-1672
-
-
Lun, F.M.1
Chiu, R.W.2
Allen Chan, K.C.3
-
14
-
-
84861658383
-
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia
-
Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin Chem 2012;58(6):1026–32.
-
(2012)
Clin Chem
, vol.58
, Issue.6
, pp. 1026-1032
-
-
Barrett, A.N.1
McDonnell, T.C.2
Chan, K.C.3
Chitty, L.S.4
-
15
-
-
84866977090
-
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia
-
Lam KW, Jiang P, Liao GJ, et al. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 2012;58(10):1467–75.
-
(2012)
Clin Chem
, vol.58
, Issue.10
, pp. 1467-1475
-
-
Lam, K.W.1
Jiang, P.2
Liao, G.J.3
-
16
-
-
84902304410
-
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma
-
New MI, Tong YK, Yuen T, et al. Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma. J Clin Endocrinol Metab 2014;99(6):E1022–30.
-
(2014)
J Clin Endocrinol Metab
, vol.99
, Issue.6
, pp. E1022-E1030
-
-
New, M.I.1
Tong, Y.K.2
Yuen, T.3
-
17
-
-
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(6):569–74.
-
(2013)
Prenat Diagn
, vol.33
, Issue.6
, pp. 569-574
-
-
Futch, T.1
Spinosa, J.2
Bhatt, S.3
-
18
-
-
84928470965
-
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases
-
Wang JC, Sahoo T, Schonberg S, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med 2015;17(3):234–6.
-
(2015)
Genet Med
, vol.17
, Issue.3
, pp. 234-236
-
-
Wang, J.C.1
Sahoo, T.2
Schonberg, S.3
-
19
-
-
84880039807
-
The role of noninvasive prenatal testing as a diagnostic versus a screening tool—a cost-effectiveness analysis
-
Ohno M, Caughey A. The role of noninvasive prenatal testing as a diagnostic versus a screening tool—a cost-effectiveness analysis. Prenat Diagn 2013;33(7):630–5.
-
(2013)
Prenat Diagn
, vol.33
, Issue.7
, pp. 630-635
-
-
Ohno, M.1
Caughey, A.2
-
20
-
-
84899508178
-
Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's Syndrome using cell free fetal DNA in the UK National Health Service
-
Morris S, Karlsen S, Chung N, et al. Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's Syndrome using cell free fetal DNA in the UK National Health Service. PLoS One 2014;9(4):e93559.
-
(2014)
PLoS One
, vol.9
, Issue.4
-
-
Morris, S.1
Karlsen, S.2
Chung, N.3
-
21
-
-
84955267704
-
Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis
-
Fairbrother G, Burigo J, Sharon T, Song K. Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis. J Matern Fetal Neonatal Med 2016;29(7):1160–4.
-
(2016)
J Matern Fetal Neonatal Med
, vol.29
, Issue.7
, pp. 1160-1164
-
-
Fairbrother, G.1
Burigo, J.2
Sharon, T.3
Song, K.4
-
23
-
-
79952230961
-
Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England
-
Hill M, Taffinder S, Chitty LS, Morris S. Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn 2011;31(3):267–73.
-
(2011)
Prenat Diagn
, vol.31
, Issue.3
, pp. 267-273
-
-
Hill, M.1
Taffinder, S.2
Chitty, L.S.3
Morris, S.4
-
24
-
-
84943348860
-
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
-
Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn 2015;35(10):950–8.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 950-958
-
-
Hill, M.1
Twiss, P.2
Verhoef, T.I.3
-
25
-
-
84919886530
-
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
-
Meng M, Li X, Ge H, et al. Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness. Genet Med 2014;16(12):972–6.
-
(2014)
Genet Med
, vol.16
, Issue.12
, pp. 972-976
-
-
Meng, M.1
Li, X.2
Ge, H.3
-
26
-
-
42149127173
-
-
Personal Social Services Research Unit; University of Kent,, Available from wwwpssruacuk/project-pages/unit-costs/2013/Accessed October 2015
-
Curtis L. Unit costs of health and social care. Personal Social Services Research Unit; University of Kent, 2014. Available from: wwwpssruacuk/project-pages/unit-costs/2013/Accessed October 2015.
-
(2014)
Unit costs of health and social care
-
-
Curtis, L.1
-
27
-
-
84975723220
-
-
Available from URL, Accessed October 2015
-
Department of Health. National schedule of reference costs 2013/14. Available from URL: https://www.gov.uk/government/publications/nhs-reference-costs-2013-to-2014. 2015. Accessed October 2015.
-
(2015)
National schedule of reference costs 2013/14
-
-
-
28
-
-
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(1):68–75.
-
(2011)
Clin Genet
, vol.80
, Issue.1
, pp. 68-75
-
-
Hill, M.1
Finning, K.2
Martin, P.3
-
29
-
-
66249100493
-
-
Report of the UK expert working group., PHG Foundation, [online], http//wwwphgfoundationorg/reports/4985 2009. Accessed November 2015
-
Wright CF. Cell-free fetal nucleic acids for non-invasive prenatal diagnosis. Report of the UK expert working group. PHG Foundation [online], http://wwwphgfoundationorg/reports/4985 2009. Accessed November 2015.
-
Cell-free fetal nucleic acids for non-invasive prenatal diagnosis
-
-
Wright, C.F.1
-
30
-
-
84879421774
-
Non-invasive prenatal testing for single gene disorders: exploring the ethics
-
Deans Z, Hill M, Chitty LS, Lewis C. Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet 2012;21(7):713–8.
-
(2012)
Eur J Hum Genet
, vol.21
, Issue.7
, pp. 713-718
-
-
Deans, Z.1
Hill, M.2
Chitty, L.S.3
Lewis, C.4
-
31
-
-
84864310059
-
Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery
-
Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn 2012;32(8):735–41.
-
(2012)
Prenat Diagn
, vol.32
, Issue.8
, pp. 735-741
-
-
Lewis, C.1
Hill, M.2
Skirton, H.3
Chitty, L.S.4
|