{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:54:43Z","timestamp":1791806083783,"version":"4.3.4"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,5,26]],"date-time":"2015-05-26T00:00:00Z","timestamp":1432598400000},"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":"publisher","award":["RP-PG-0707-10107"],"award-info":[{"award-number":["RP-PG-0707-10107"]}],"id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Great Ormond Street Hospital Children's Charity"},{"name":"NIHR Comprehensive Biological Research Centre at Great Ormond Street Hospital"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next\u2010generation sequencing (NGS) for the analysis of cell\u2010free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Analysis of cell\u2010free DNA using a PCR and restriction enzyme digest (PCR\u2013RED) was compared with a novel NGS assay in pregnancies at risk of achondroplasia and thanatophoric dysplasia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>PCR\u2013RED was performed in 72 cases and was correct in 88.6%, inconclusive in 7% with one false negative. NGS was performed in 47 cases and was accurate in 96.2% with no inconclusives. Both approaches were used in 27 cases, with NGS giving the correct result in the two cases inconclusive with PCR\u2013RED.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      NGS provides an accurate, flexible approach to non\u2010invasive prenatal diagnosis of\n                      <jats:italic>de novo<\/jats:italic>\n                      and paternally inherited mutations. It is more sensitive than PCR\u2013RED and is ideal when screening a gene with multiple potential pathogenic mutations. These findings highlight the value of NGS in the development of non\u2010invasive prenatal diagnosis for other monogenic disorders. \u00a9 2015 The Authors.\n                      <jats:italic>Prenatal Diagnosis<\/jats:italic>\n                      published by John Wiley &amp; Sons, Ltd.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.4583","type":"journal-article","created":{"date-parts":[[2015,2,26]],"date-time":"2015-02-26T06:45:08Z","timestamp":1424933108000},"page":"656-662","source":"Crossref","is-referenced-by-count":178,"title":["Non\u2010invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next\u2010generation sequencing allows for a safer, more accurate, and comprehensive approach"],"prefix":"10.1002","volume":"35","author":[{"given":"Lyn S.","family":"Chitty","sequence":"first","affiliation":[{"name":"UCL Institute of Child Health Genetics and Genomic Medicine  London UK"},{"name":"University College London Hospitals NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Mason","sequence":"additional","affiliation":[{"name":"N\u2010E Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela N.","family":"Barrett","sequence":"additional","affiliation":[{"name":"N\u2010E Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3626-764X","authenticated-orcid":false,"given":"Fiona","family":"McKay","sequence":"additional","affiliation":[{"name":"N\u2010E Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Lench","sequence":"additional","affiliation":[{"name":"N\u2010E Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Daley","sequence":"additional","affiliation":[{"name":"University College London Hospitals NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy A.","family":"Jenkins","sequence":"additional","affiliation":[{"name":"N\u2010E Thames Regional Genetics Service Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000271995"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)02174-0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4136"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4111"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4101"},{"key":"e_1_2_6_7_1","unstructured":"CMGSAudit report 2012. 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