{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:31:36Z","timestamp":1792150296810,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,5,22]],"date-time":"2016-05-22T00:00:00Z","timestamp":1463875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"crossref","award":["RP-PG-0707-10107"],"award-info":[{"award-number":["RP-PG-0707-10107"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"crossref","award":["RP-PG-0707-10107"],"award-info":[{"award-number":["RP-PG-0707-10107"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"crossref"}]},{"name":"NIHR Comprehensive Local Research Network"},{"name":"Great Ormond Street Hospital Children's Charity"},{"name":"NIHR Biomedical Research Centre at Great Ormond Street Hospital"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Evaluate the costs of offering non\u2010invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>For autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost \u00a3314 less than invasive testing. NIPD for autosomal recessive and X\u2010linked conditions requires more complicated technical approaches and total costs were more than invasive testing, e.g. NIPD for spinal muscular atrophy was \u00a31090 more than invasive testing. Impact of test uptake on costs was assessed using sickle cell disorder as an example. Anticipated high uptake of NIPD resulted in an incremental cost of NIPD over invasive testing of \u00a348\u2009635 per 100 pregnancies at risk of sickle cell disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Total costs of NIPD are dependent upon the complexity of the testing technique required. Anticipated increased demand for testing may have economic implications for prenatal diagnostic services. Ethical issues requiring further consideration are highlighted including directing resources to NIPD when used for information only and restricting access to safe tests if it is not cost\u2010effective to develop NIPD for rare conditions. \u00a9 2016 The Authors. <jats:italic>Prenatal Diagnosis<\/jats:italic> published by John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4832","type":"journal-article","created":{"date-parts":[[2016,4,23]],"date-time":"2016-04-23T17:52:42Z","timestamp":1461433962000},"page":"636-642","source":"Crossref","is-referenced-by-count":58,"title":["Non\u2010invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways"],"prefix":"10.1002","volume":"36","author":[{"given":"Talitha I.","family":"Verhoef","sequence":"first","affiliation":[{"name":"Department of Applied Health Research University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Hill","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"},{"name":"Genetics and Genomic Medicine UCL Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7915-6072","authenticated-orcid":false,"given":"Suzanne","family":"Drury","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Mason","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Jenkins","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Morris","sequence":"additional","affiliation":[{"name":"Department of Applied Health Research University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyn S.","family":"Chitty","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"},{"name":"Genetics and Genomic Medicine UCL Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4124"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000271995"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12179"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-014-9725-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm3010176"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.238"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35972"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8893"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4583"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/48.5.778"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.439"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.155671"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.111385"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.178939"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2012.189589"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1118"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4123"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.92"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4156"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0093559"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2015.1038703"},{"key":"e_1_2_6_23_1","unstructured":"ChittyLS WrightD VerhoefTI et al.A prospective cohort study and economic model to evaluate costs and benefits acceptability and implications at a population level of implementing non\u2010invasive prenatal testing for aneuploidy into routine NHS maternity care. 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