Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units
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OBJECTIVE: To investigate the benefits and costs of implementing non-invasive prenatal testing (NIPT) for Down's syndrome into the NHS maternity care pathway. DESIGN: Prospective cohort study. SETTING: Eight maternity units across the United Kingdom between 1 November 2013 and 28 February 2015. PARTICIPANTS: All pregnant women with a current Down's syndrome risk on screening of at least 1/1000. MAIN OUTCOME MEASURES: Outcomes were uptake of NIPT, number of cases of Down's syndrome detected, invasive tests performed, and miscarriages avoided. Pregnancy outcomes and costs associated with implementation of NIPT, compared with current screening, were determined using study data on NIPT uptake and invasive testing in combination with national datasets. RESULTS: NIPT was prospectively offered to 3175 pregnant women. In 934 women with a Down's syndrome risk greater than 1/150, 695 (74.4%) chose NIPT, 166 (17.8%) chose invasive testing, and 73 (7.8%) declined further testing. Of 2241 women with risks between 1/151 and 1/1000, 1799 (80.3%) chose NIPT. Of 71 pregnancies with a confirmed diagnosis of Down's syndrome, 13/42 (31%) with the diagnosis after NIPT and 2/29 (7%) after direct invasive testing continued, resulting in 12 live births. In an annual screening population of 698 500, offering NIPT as a contingent test to women with a Down's syndrome screening risk of at least 1/150 would increase detection by 195 (95% uncertainty interval -34 to 480) cases with 3368 (2279 to 4027) fewer invasive tests and 17 (7 to 30) fewer procedure related miscarriages, for a non-significant difference in total costs (£-46 000, £-1 802 000 to £2 661 000). The marginal cost of NIPT testing strategies versus current screening is very sensitive to NIPT costs; at a screening threshold of 1/150, NIPT would be cheaper than current screening if it cost less than £256. Lowering the risk threshold increases the number of Down's syndrome cases detected and overall costs, while maintaining the reduction in invasive tests and procedure related miscarriages. CONCLUSIONS: Implementation of NIPT as a contingent test within a public sector Down's syndrome screening programme can improve quality of care, choices for women, and overall performance within the current budget. As some women use NIPT for information only, the Down's syndrome live birth rate may not change significantly. Future research should consider NIPT uptake and informed decision making outside of a research setting.
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The usefulness of PAPP-A as a marker is limited by the uptake of trisomy screening, which is around 66% in the UK.
“The usefulness of this marker is limited by the uptake of trisomy screening, which is around 66% in the UK [12].”
From Volume and vascularity: Using ultrasound to unlock the secrets of the first trimester placenta (2019) · cites this paper as [12]
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Yaşlı Kadınlarda Üreme Sağlığı
Kokanalı, D., & Engin Üstün, Y. (n.d.) · DergiPark (Istanbul University) · Cited by 170,090 · see citing works
Two new Later Stone Age sites from the Final Pleistocene in the Falémé Valley, eastern Senegal
Ndiaye, M., Lespez, L., Tribolo, C., Rassé, M., Hadjas, I., Davidoux, S., Huysecom, É., & Douze, K. (2024) · Monash University Research Portal (Monash University) · doi:10.3929/ethz-b-000667478 · Cited by 24,015 · see citing works
Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., Bombard, A. T., Deciu, C., Grody, W. W., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182368a0e · Cited by 937 · see citing works
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., Tomlinson, M. W., Pereira, L., Spitz, J. L., Hollemon, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1407349 · Cited by 817 · see citing works
Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14791 · Cited by 806 · see citing works
Update on Procedure-Related Risks for Prenatal Diagnosis Techniques
Tabor, A., & Alfirević, Ž. (2009) · Fetal Diagnosis and Therapy · doi:10.1159/000271995 · Cited by 398 · see citing works
Zhang, H., Gao, Y. M., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M.-W., Liu, Q., Tian, Z., et al. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14792 · Cited by 394 · see citing works
(2015) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000001051 · Cited by 350 · see citing works
BENN, P. A., BORRELL, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B. H. W., Gross, S. J., Huang, T., Johnson, J.-A. M., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 293 · see citing works
Self-citationACMG statement on noninvasive prenatal screening for fetal aneuploidy
Gregg, A. R., Gross, S. J., Best, R. G., Monaghan, K. G., Bajaj, K., Skotko, B. G., Thompson, B. H., & Watson, M. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.29 · Cited by 272 · see citing works
Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening
Chetty, S., Garabedian, M. J., & Norton, M. E. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4125 · Cited by 168 · see citing works
Overview of the impact of noninvasive prenatal testing on diagnostic procedures
Warsof, S. L., Larion, S., & Abuhamad, A. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4601 · Cited by 160 · see citing works
Petersen, O. B., Vogel, I., Ekelund, C., Hyett, J., Tabor, A., the Danish Fetal Medicine Study Group, & the Danish Clinical Genetics Study Group (2014) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.13270 · Cited by 154 · see citing works
Global perspectives on clinical adoption of NIPT
Minear, M. A., Lewis, C., Pradhan, S., & Chandrasekharan, S. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4637 · Cited by 146 · see citing works
Self-citationNoninvasive prenatal diagnosis: pregnant women's interest and expected uptake
Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2888 · Cited by 131 · see citing works
Non-Invasive Prenatal Testing for Down's Syndrome: Pregnant Women's Views and Likely Uptake
Lewis, C., Silcock, C., & Chitty, L. S. (2013) · Public Health Genomics · doi:10.1159/000353523 · Cited by 130 · see citing works
Self-citationGil, M. M., Revello, R., Poon, L. C., Akolekar, R., & Nicolaides, K. H. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.15783 · Cited by 124 · see citing works
Song, K., Musci, T. J., & Caughey, A. B. (2013) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2013.770464 · Cited by 122 · see citing works
Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis
Cuckle, H., BENN, P. A., & Pergament, E. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4157 · Cited by 115 · see citing works
Langlois, S. F., Brock, J., Wilson, R. D., Audibert, F., Brock, J., Carroll, J. C., Cartier, L., Gagnon, A., Johnson, J.-A., Langlois, S. F., et al. (2013) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(15)31025-2 · Cited by 114 · see citing works
Hill, M. K., Johnson, J.-A., Langlois, S. F., Lee, H. J., Winsor, S. H. M., Dineley, B., Horniachek, M., Lalatta, F., Ronzoni, L., Barrett, A. N., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.249 · Cited by 111 · see citing works
Self-citationStephen Morris, A., Karlsen, S., Chung, N., Hill, M. K., & Chitty, L. S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0093559 · Cited by 110 · see citing works
Self-citationOhno, M. S., & Caughey, A. B. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4156 · Cited by 104 · see citing works
Lewis, C., Hill, M. K., Silcock, C., Daley, R., & Chitty, L. S. (2014) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.12579 · Cited by 93 · see citing works
Self-citationCell-free DNA screening for fetal aneuploidy as a clinical service
Cuckle, H., BENN, P. A., & Pergament, E. (2015) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2015.02.011 · Cited by 85 · see citing works
Hill, M. K., Wright, D. E., Daley, R., Lewis, C., McKay, F., Mason, S., Lench, N., Howarth, A., Boustred, C. R., Lo, K., et al. (2014) · BMC Pregnancy and Childbirth · doi:10.1186/1471-2393-14-229 · Cited by 83 · see citing works
Self-citationLewis, C., Hill, M. K., Skirton, H., & Chitty, L. S. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.207 · Cited by 78 · see citing works
Self-citationIntroducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysis
Neyt, M., Hulstaert, F., & Gyselaers, W. (2014) · BMJ Open · doi:10.1136/bmjopen-2014-005922 · Cited by 78 · see citing works
Wagner, P., Sonek, J., Hoopmann, M., Abele, H., & Kagan, K. O. (2016) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.15829 · Cited by 68 · see citing works
Beulen, L., Grutters, J. P. C., Faas, B. H. W., Feenstra, I., van Vugt, J. M. G., & Bekker, M. N. (2014) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2014.08.028 · Cited by 62 · see citing works
O'Leary, P. C., Maxwell, S. J., Murch, A. R., & Hendrie, D. V. (2013) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.12136 · Cited by 58 · see citing works
Okun, N. B., Teitelbaum, M., Huang, T., Dewa, C. S., & Hoch, J. S. (2014) · Prenatal Diagnosis · doi:10.1002/pd.4311 · Cited by 49 · see citing works
Ayres, A. C., Whitty, J. A., & Ellwood, D. A. (2014) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.12223 · Cited by 45 · see citing works
Walker, B. S., Jackson, B. R., LaGrave, D., Ashwood, E. R., & Schmidt, R. L. (2014) · Prenatal Diagnosis · doi:10.1002/pd.4511 · Cited by 43 · see citing works
Wax, J. R., Cartin, A., Chard, R., Lucas, F. L., & Pinette, M. G. (2014) · Journal of Clinical Ultrasound · doi:10.1002/jcu.22243 · Cited by 38 · see citing works
Gil, M. M., Giunta, G., Macalli, E. A., Poon, L. C., & Nicolaides, K. H. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14683 · Cited by 38 · see citing works
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy
Lo, K., Boustred, C. R., Chitty, L. S., & Plagnol, V. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu419 · Cited by 32 · see citing works
Self-citationJohnson, J.-A. M., Pastuck, M., Metcalfe, A., Connors, G., Krause, R. D., Wilson, D., & Cuckle, H. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4194 · Cited by 31 · see citing works
Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome
Wald, N., & Bestwick, J. P. (2013) · PLoS ONE · doi:10.1371/journal.pone.0058732 · Cited by 31 · see citing works
Flagged first, then by citations
1 of the 40 references couldn’t be matched to a known paper.
Research works printed but not linked: 3
- [13]Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis. Prenat Diagn 2013; 33: 636- 42. 10.1002/pd.4157 pmid:23674341. 23674341 · DOI
- [14]Garfield SS, Armstrong SO. Clinical and cost consequences of incorporating a novel non-invasive prenatal test into the diagnostic pathway for fetal trisomies. J Managed Care Med 2012; 15: 34- 41.
- [35]National Institute for Health and Care Excellence. Developing NICE guidelines: the manual. NICE, 2014 (available from https://www.nice.org.uk/article/pmg20/chapter/glossary#costconsequences-analysis). 26677490
Cited by
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Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Updated meta-analysis
Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.17484 · Cited by 683 · see citing works
Sequencing of Circulating Cell-free DNA during Pregnancy
Bianchi, D. W., & Chiu, R. W. K. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1705345 · Cited by 315 · see citing works
The Emergence and Global Spread of Noninvasive Prenatal Testing
Ravitsky, V., Roy, M., Haidar, H., Henneman, L., Marshall, J., Newson, A. J., Ngan, O. M. Y., & Nov‐Klaiman, T. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-015053 · Cited by 150 · see citing works
Hui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6357 · Cited by 109 · see citing works
Self-citationOpening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing
Horn, R., & Parker, M. J. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5114 · Cited by 110 · see citing works
Bardi, F., Bosschieter, P. F. N., Verheij, J., Go, A. T. J. I., Haak, M. C., Bekker, M. N., Sikkel, E., Coumans, A. B. C., Pajkrt, E., & Bilardo, C. M. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5590 · Cited by 89 · see citing works
van Schendel, R. V., van El, C. G., Pajkrt, E., Henneman, L., & Cornel, M. C. (2017) · BMC Health Services Research · doi:10.1186/s12913-017-2618-0 · Cited by 76 · see citing works
Shaw, J., Scotchman, E., Chandler, N. J., & Chitty, L. S. (2020) · Reproduction · doi:10.1530/rep-19-0591 · Cited by 79 · see citing works
Self-citationvan Schendel, R. V., Christiaens, G. C. M. L., Beulen, L., Bilardo, C. M., de Boer, M. A., Coumans, A. B. C., Faas, B. H. W., van Langen, I. M., Lichtenbelt, K. D., van Maarle, M. C., et al. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4941 · Cited by 74 · see citing works
Hui, L., Hutchinson, B., Poulton, A., & Halliday, J. L. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.55 · Cited by 71 · see citing works
Hill, M. K., Barrett, A. N., Choolani, M. A., Lewis, C., Fisher, J., & Chitty, L. S. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5182 · Cited by 71 · see citing works
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Skrzypek, H., & Hui, L. (2017) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2017.02.007 · Cited by 61 · see citing works
Palomaki, G. E., & Kloza, E. M. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.22 · Cited by 59 · see citing works
Miltoft, C. B., Rode, L., Ekelund, C. K., Sundberg, K., Kjærgaard, S., Zingenberg, H., & Tabor, A. (2017) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.17562 · Cited by 56 · see citing works
Lewis, C., Hill, M. K., & Chitty, L. S. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5154 · Cited by 53 · see citing works
Self-citationLiang, D., Lin, Y., Qiao, F., Li, H., Wang, Y., Zhang, J., Liu, A., Ji, X., Ma, D., Jiang, T., et al. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5328 · Cited by 53 · see citing works
Update on noninvasive prenatal testing: A review based on current worldwide research
Samura, O. (2020) · Journal of obstetrics and gynaecology research · doi:10.1111/jog.14268 · Cited by 50 · see citing works
Kagan, K. O., Sroka, F., Sonek, J., Abele, H., Lüthgens, K., Schmid, M., Wagner, P., Brucker, S. Y., Wallwiener, D. R., & Hoopmann, M. (2017) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.18905 · Cited by 49 · see citing works
Hui, L., Barclay, J., Poulton, A., Hutchinson, B., & Halliday, J. L. (2018) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.12778 · Cited by 48 · see citing works
Nshimyumukiza, L., Menon, S., Hina, H., Rousseau, F., & Reinharz, D. (2017) · Clinical Genetics · doi:10.1111/cge.13155 · Cited by 46 · see citing works
van der Meij, K. R. M., Njio, A., Martin, L., der Wal, J. T. G.-V., Bekker, M. N., van Vliet‐Lachotzki, E. H., van der Ven, A. J. E. M., Kater‐Kuipers, A., Timmermans, D. R. M., Sistermans, E. A., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00940-8 · Cited by 46 · see citing works
(2019) · Europe PMC (PubMed Central) · Cited by 43 · see citing works
Evaluation of machine learning algorithms for improved risk assessment for Down's syndrome
Koivu, A., Korpimäki, T., Kivelä, P., Pahikkala, T., & Sairanen, M. (2018) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2018.05.004 · Cited by 38 · see citing works
Smith, S. K., Cai, A., Wong, M., Sousa, M. S., Peate, M., Welsh, A. W., Meiser, B., Kaur, R., Halliday, J. L., Lewis, S., et al. (2018) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-018-2135-0 · Cited by 38 · see citing works
Benachi, A., Caffrey, J., Calda, P., Carreras, E., Jani, J. C., Kilby, M. D., Klein, H., Rizzo, G., & Yaron, Y. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.01.006 · Cited by 38 · see citing works
Zhang, W., Mohammadi, T., Sou, J., & Anis, A. H. (2019) · PLoS ONE · doi:10.1371/journal.pone.0225281 · Cited by 35 · see citing works
Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening
Rafi, I., Hill, M. K., Hayward, J., & Chitty, L. S. (2017) · British Journal of General Practice · doi:10.3399/bjgp17x691625 · Cited by 35 · see citing works
Self-citationBunnik, E. M., Kater‐Kuipers, A., Galjaard, R. H., & de Beaufort, I. D. (2019) · Journal of Medical Ethics · doi:10.1136/medethics-2019-105675 · Cited by 32 · see citing works
García‐Pérez, L., Linertová, R., Rodríguez, M. Á. D. L. R., Bayón, J. C., Imaz-Iglesia, I., Ferrer-Rodríguez, J., & Serrano‐Aguilar, P. (2017) · The European Journal of Health Economics · doi:10.1007/s10198-017-0946-y · Cited by 32 · see citing works
Ericsson, O., Ahola, T., Dahl, F., Karlsson, F., Persson, F., Karlberg, O., Roos, F., Alftrén, I., Andersson, B., Barkenäs, E., et al. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5528 · Cited by 32 · see citing works
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Mathewlynn, S., & Collins, S. L. (2019) · Placenta · doi:10.1016/j.placenta.2019.06.379 · Cited by 30 · see citing works
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Griffin, B., Edwards, S., Chitty, L. S., & Lewis, C. (2017) · Journal of Psychosomatic Obstetrics & Gynecology · doi:10.1080/0167482x.2017.1286643 · Cited by 30 · see citing works
Self-citationLindquist, A., Hui, L., Poulton, A., Kluckow, E., Hutchinson, B., Pertile, M. D., Bonacquisto, L., Gugasyan, L., Kulkarni, A., Harraway, J. R., et al. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21899 · Cited by 30 · see citing works
Luo, Y., Hu, H., Jiang, L., Ma, Y., Zhang, R., Xu, J., Pan, Y., Long, Y., Yao, H., & Liang, Z. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104001 · Cited by 29 · see citing works
Ge, Y., Li, J., Zhuang, J., Zhang, J., Huang, Y., Tan, M., Li, W., Chen, J., & Zhou, Y. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00955-6 · Cited by 29 · see citing works
Martin, L., der Wal, J. T. G.-V., de Boer, M. A., Vanstone, M. G., & Henneman, L. (2017) · Midwifery · doi:10.1016/j.midw.2017.09.008 · Cited by 29 · see citing works
Prenatal reflex DNA screening for trisomies 21, 18, and 13
Wald, N., Huttly, W. J., Bestwick, J. P., Old, R. W., Morris, J. K., Cheng, R., Aquilina, J., Peregrine, E., Roberts, D., & Alfirević, Ž. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.188 · Cited by 28 · see citing works
Oxenford, K., Daley, R., Lewis, C., Hill, M. K., & Chitty, L. S. (2017) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-017-1315-7 · Cited by 27 · see citing works
Self-citationHalliday, J. L., Muller, C., Charles, T., Norris, F., Kennedy, J., Lewis, S., Meiser, B., Donath, S. M., Stark, Z., McGillivray, G., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-017-0084-0 · Cited by 27 · see citing works
Huang, T., Gibbons, C., Rashid, S., Priston, M., Bedford, H. M., Mak‐Tam, E., & Meschino, W. S. (2020) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-020-03394-w · Cited by 26 · see citing works
Expanded conventional first trimester screening
Carmichael, J. B., Liu, H., Janik, D., Hallahan, T., Nicolaides, K. H., & Krantz, D. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5090 · Cited by 25 · see citing works
Preferences for aspects of antenatal and newborn screening: a systematic review
Vass, C., Georgsson, S., Ulph, F., & Payne, K. (2019) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-019-2278-7 · Cited by 22 · see citing works
Wilkie, A. O. M., & Goriely, A. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5108 · Cited by 24 · see citing works
Zheng, J., Lu, H., Li, M., Guan, Y., Yang, F., Xu, M., Dong, J., Zhang, Q., An, N., & Zhou, Y. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00624 · Cited by 23 · see citing works
Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing
Shi, J., Zhang, R., Li, J., & Zhang, R. (2019) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2019.1631749 · Cited by 21 · see citing works
Prenatal Screening for Fetal Aneuploidy
Langlois, S., & Wilson, R. D. (2017) · OBM Genetics · doi:10.21926/obm.genet.1703007 · Cited by 21 · see citing works
Integrating NIPT and ultrasound for detecting fetal aneuploidies and abnormalities
Andonotopo, W., Bachnas, M. A., Pribadi, A., Aziz, M. A., Akbar, M. I. A., Ernawati, E., Sanjaya, I. N. H., Wiradnyana, A. A. G. P., Aldiansyah, D., Dewantiningrum, J., et al. (2025) · Journal of Perinatal Medicine · doi:10.1515/jpm-2025-0005 · Cited by 19 · see citing works
Kim, S. Y., Lee, S. M., Jun, J. K., Han, Y. J., Kim, M. H., Shim, J., Lee, M., Oh, S.-Y., Lee, J. H., Kim, S. H., et al. (2018) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-018-1930-y · Cited by 19 · see citing works
Dougan, S., Okun, N. B., Bellai‐Dussault, K., Meng, L., Howley, H. E. A., Huang, T., Reszel, J., Lanes, A., WALKER, M. C., & Armour, C. M. (2021) · Canadian Medical Association Journal · doi:10.1503/cmaj.202456 · Cited by 18 · see citing works
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview
Sabbatinelli, G., Fantasia, D., Palka, C., Morizio, E., Alfonsi, M., & Calabrese, G. (2021) · Diagnostics · doi:10.3390/diagnostics11122239 · Cited by 19 · see citing works
Miltoft, C. B., Rode, L., & Tabor, A. (2018) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.13297 · Cited by 18 · see citing works
Lépine, J., Portocarrero, M. E. L., Delanoë, A., Robitaille, H., Lévesque, I., Rousseau, F., Wilson, B. J., Giguere, A. M. C., & Légaré, F. (2016) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-016-1053-2 · Cited by 17 · see citing works
Perrot, A., & Horn, R. (2022) · PLoS ONE · doi:10.1371/journal.pone.0277010 · Cited by 17 · see citing works
Cheng, Y., Leung, W., Leung, T., Choy, K. W., Chiu, R., Lo, T., Kwok, K., & Sahota, D. S. (2017) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.15022 · Cited by 17 · see citing works
Trends in the use of prenatal testing services for fetal aneuploidy in Ontario: a descriptive study
Huang, T., Dougan, S., WALKER, M. C., Armour, C. M., & Okun, N. B. (2018) · CMAJ Open · doi:10.9778/cmajo.20180046 · Cited by 17 · see citing works
Lund, I. C. B., Petersen, O. B., Becher, N., Lildballe, D. L., Jørgensen, F. S., Ambye, L., Skibsted, L., Ernst, A., Jensen, A. N., Fagerberg, C. R., et al. (2020) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.14052 · Cited by 16 · see citing works
Cell‐free fetal DNA ‐based noninvasive prenatal testing of aneuploidy
Mackie, F. L., Allen, S. K., Morris, R. K., & Kilby, M. D. (2017) · The Obstetrician & Gynaecologist · doi:10.1111/tog.12388 · Cited by 15 · see citing works
Maxwell, S. J., O'Leary, P. C., Dickinson, J. E., & Suthers, G. (2017) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.12612 · Cited by 14 · see citing works
Langlois, S., Johnson, J.-A. M., Audibert, F., Gekas, J., Forest, J., Caron, A., Harrington, K., Pastuck, M., Meddour, H., Têtu, A., et al. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5174 · Cited by 14 · see citing works
D’Ippolito, S., Longo, G., Orteschi, D., Busnelli, A., Simone, N. D., Pulcinelli, E., Schettini, G., Scambia, G., & Zollino, M. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12123898 · Cited by 14 · see citing works
Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting
Žilina, O., Rekker, K., Kaplinski, L., Sauk, M., Paluoja, P., Teder, H., Ustav, E., Tõnisson, N., Reimand, T., Ridnõi, K., et al. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5578 · Cited by 14 · see citing works
Screening for fetal chromosomal and subchromosomal disorders
Harris, S. C., Reed, D., & Vora, N. L. (2017) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2017.10.006 · Cited by 13 · see citing works
Update in non-invasive prenatal testing
D’Ambrosio, V., Squarcella, A., Vena, F., Mascio, D. D., Corno, S., Pajno, C., Piccioni, M. G., Brunelli, R., Pizzuti, A., Panici, P. B., et al. (2019) · Minerva Obstetrics and Gynecology · doi:10.23736/s0026-4784.18.04306-x · Cited by 13 · see citing works
Sagi‐Dain, L., Singer, A., Petersen, O. B., Lou, S., & Vogel, I. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.768997 · Cited by 13 · see citing works
Deans, Z. C., Allen, S. K., Jenkins, L., Khawaja, F., Gutowska‐Ding, W., Patton, S. J., Chitty, L. S., & Hastings, R. J. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5438 · Cited by 13 · see citing works
Self-citationFranchi, P. G., Palka, C., Morizio, E., Sabbatinelli, G., Alfonsi, M., Fantasia, D., Sitar, G., BENN, P. A., & Calabrese, G. (2017) · PLoS ONE · doi:10.1371/journal.pone.0189235 · Cited by 12 · see citing works
van Dijke, I., Lakeman, P., Mathijssen, I. B., Goddijn, M., Cornel, M. C., & Henneman, L. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-00706-8 · Cited by 12 · see citing works
Hill, M. K., Ellard, S., Fisher, J., Fulop, N., Knight, M., Kroese, M., Ledger, J., Leeson‐Beevers, K., McEwan, A., McMullan, D. J., et al. (2022) · NIHR Open Research · doi:10.3310/nihropenres.13247.2 · Cited by 11 · see citing works
Self-citationTargeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study
Koç, A., Kaya, Ö. Ö., Özyılmaz, B., Kutbay, Y. B., Kırbıyık, Ö., Özdemir, T. R., Erdoğan, K. M., Güvenç, M. S., Öztekin, D. C., Özeren, M., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.678 · Cited by 11 · see citing works
Yang, J., Chen, M., Shen, W., Wu, H., Shou, J., Sun, J., & Wu, W. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6075 · Cited by 10 · see citing works
Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review
Douglas, M. P., & Kumar, A. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12040557 · Cited by 12 · see citing works
Perrot, A., Clarke, A. J., Vassy, C., & Horn, R. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1839 · Cited by 9 · see citing works
Bowden, B., de Souza, S., Puchades, A., Williams, K., Morgan, S., Anderson, S., Tucker, D., & Hillier, S. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6131 · Cited by 9 · see citing works
Lepage, N., WYATT, P. R., Ashwood, E. R., Best, R. G., Long, T. H., & Palomaki, G. E. (2021) · Journal of Medical Screening · doi:10.1177/09691413211031610 · Cited by 9 · see citing works
Stefanović, V. (2019) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2019.1571912 · Cited by 8 · see citing works
Analysis of risk communication teaching in psychosocial and other medical departments
Baessler, F., Zafar, A., Ciprianidis, A., Wagner, F. L., Klein, S. B., Schweizer, S., Bartolovic, M., Roesch-Ely, D., Ditzen, B., Nikendei, C., et al. (2020) · Medical Education Online · doi:10.1080/10872981.2020.1746014 · Cited by 8 · see citing works
Barnoy, S., Biton, A., & Itzhaki, M. (2017) · Journal of Pediatric Nursing · doi:10.1016/j.pedn.2017.02.035 · Cited by 8 · see citing works
A Brave New World of Bespoke Babies?
Shakespeare, T. (2016) · The American Journal of Bioethics · doi:10.1080/15265161.2016.1251649 · Cited by 8 · see citing works
Huang, T., Bellai‐Dussault, K., Meng, L., Hull, D., Howley, H. E. A., Reszel, J., Lanes, A., WALKER, M. C., Armour, C. M., Okun, N. B., et al. (2023) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2023.110596 · Cited by 7 · see citing works
Nshimyumukiza, L., Beaumont, J.-A., Rousseau, F., & Reinharz, D. (2020) · Cost Effectiveness and Resource Allocation · doi:10.1186/s12962-020-00245-5 · Cited by 7 · see citing works
Yang, S., Zhuang, Y., Li, J., & Fu, X. (2025) · PLoS ONE · doi:10.1371/journal.pone.0312184 · Cited by 6 · see citing works
Wise, J. (2016) · BMJ · doi:10.1136/bmj.i5344 · Cited by 6 · see citing works
Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective
Massa, J. D., Arora, V., Lallar, M., Bijarnia, S., Puri, R. D., & Verma, I. C. (2019) · Journal of Fetal Medicine · doi:10.1007/s40556-019-00228-4 · Cited by 6 · see citing works
Sainz‐Bueno, J. A., Torres, M. R., Peral, I., Granell, R., Vargas, M., Carrasco, P., García‐Mejido, J. A., Santacruz, B., & Gil, M. M. (2020) · Fetal Diagnosis and Therapy · doi:10.1159/000508306 · Cited by 6 · see citing works
Schroeder, L., Yang, M., Brocklehurst, P., Linsell, L., & Rivero‐Arias, O. (2020) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/archdischild-2020-318806 · Cited by 6 · see citing works
Sacco, A., Hewitt, H., & Pandya, P. P. (2019) · Archives of Disease in Childhood · doi:10.1136/archdischild-2019-317031 · Cited by 6 · see citing works
John, N. M., Wright, S. J., Gavan, S. P., & Vass, C. (2019) · The European Journal of Health Economics · doi:10.1007/s10198-019-01082-x · Cited by 5 · see citing works
The Natural History of Trisomy 21: Outcome Data from a Large Tertiary Referral Centre
O’Connor, C., Moore, R., McParland, P., Hughes, H., Cathcart, B., Higgins, S., Mahony, R., Carroll, S., Walsh, J., & McAuliffe, F. M. (2021) · Fetal Diagnosis and Therapy · doi:10.1159/000517729 · Cited by 5 · see citing works
Palomaki, G. E., Smith, W. E., Bajaj, K., Rowsey, R. A., Hurst, A. C. E., Lambert-Messerlian, G. M., & Best, R. G. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101505 · Cited by 4 · see citing works
Can we improve risk communication about non‐invasive prenatal testing?
Petrova, D., & García‐Retamero, R. (2017) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.14855 · Cited by 4 · see citing works
Fortune and hindsight: gene patents’ muted effect on medical practice
Sherkow, J. S., & Abbott, R. B. (2018) · British Medical Bulletin · doi:10.1093/bmb/ldy009 · Cited by 4 · see citing works
Yang, C., Hu, L., Jiang, S., Liang, F., & Zhang, S. (2022) · Medicine · doi:10.1097/md.0000000000029985 · Cited by 4 · see citing works
Chen, A., Tenhunen, H., Torkki, P. M., Heinonen, S. T., Lillrank, P. M., & Stefanović, V. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4960 · Cited by 4 · see citing works
Abdalla, O., Woods, C., & Costa, C. M. D. (2018) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.12842 · Cited by 4 · see citing works
Bras, A. L., Salomon, L. J., Bussières, L., Malan, V., Elie, C., Mahallati, H., Ville, Y. G., Vekemans, M. J. J., & Durand‐Zaleski, I. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.20301 · Cited by 4 · see citing works
Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?
Benítez, L., Pauta, M., Matas, I., Madrigal, I., & BORRELL, A. (2020) · Fetal Diagnosis and Therapy · doi:10.1159/000509796 · Cited by 3 · see citing works
Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening
Rutter, T., Hastings, R. P., Enoch, N., Flynn, S., Randell, M. J., & Stinton, C. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64206 · Cited by 3 · see citing works
Cell-Free DNA-Based Noninvasive Prenatal Testing and Society
van El, C. G., & Henneman, L. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-814189-2.00014-1 · Cited by 3 · see citing works
La France et la Grande-Bretagne à l’ère de la médecine génomique
Horn, R. (2019) · médecine/sciences · doi:10.1051/medsci/2019004 · Cited by 3 · see citing works
- Authors
- Chitty, L. S., Wright, D., Hill, M., Verhoef, T. I., Daley, R., Lewis, C., Mason, S., McKay, F., Jenkins, L., Howarth, A., Cameron, L., McEwan, A., Fisher, J., Kroese, M., & Morris, S.
- Affiliations
- Great Ormond Street Hospital (GB)
- University of Plymouth (GB)
- University College London (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- PHG Foundation (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Corresponding author
- Chitty, Lyn S
- ORCID
- Venue
- BMJ
- Publisher
- BMJ
- Published
- 2016-07-04
- Volume
- 354
- Pages
- i3426
- ISSN
- 1756-1833 (ISSN-L)
- PMC
- PMC4933930
- OpenAlex
- W2462899390
- Cited by
- 149
- References
- 40
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 5 · 2023: 11 · 2022: 11 · 2021: 14 · 2020: 16 · 2019: 26 · 2018: 20 · 2017: 30 · 2016: 6 · 2015: 1
- FWCI
- 31.81
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- BMJ (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- HighWire Press Open Archive (submittedVersion)
- Funders
- National Institute for Health and Care Research (NF-SI-0513-10141, RP-PG-0707-10107)
- Great Ormond Street Hospital Charity
- Programme Grants for Applied Research (RP-PG-0707-10107)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Obstetrics and Gynecology › Maternal and Perinatal Health Interventions
- Keywords
- non-invasive prenatal testing, Down syndrome, prenatal screening, implementation costs, invasive prenatal diagnosis, miscarriage prevention, screening thresholds, diagnostic accuracy, pregnancy outcomes, cost-effectiveness, NHS Health Scotland
- MeSH terms
- Cost-Benefit Analysis, Down Syndrome, Female, Genetic Testing, United Kingdom, Humans, Maternal Age, Patient Acceptance of Health Care, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, Second, Prenatal Diagnosis, Prospective Studies
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