{"id":"https://openalex.org/W2107488552","doi":"https://doi.org/10.1002/pd.4583","title":"Non\u2010invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next\u2010generation sequencing allows for a safer, more accurate, and comprehensive approach","display_name":"Non\u2010invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next\u2010generation sequencing allows for a safer, more accurate, and comprehensive approach","publication_year":2015,"publication_date":"2015-02-26","ids":{"openalex":"https://openalex.org/W2107488552","doi":"https://doi.org/10.1002/pd.4583","mag":"2107488552","pmid":"https://pubmed.ncbi.nlm.nih.gov/25728633","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4657458"},"language":"en","primary_location":{"id":"doi:10.1002/pd.4583","doi":"https://doi.org/10.1002/pd.4583","is_oa":true,"landing_page_url":"https://doi.org/10.1002/pd.4583","pdf_url":"https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.4583","source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal Diagnosis","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.4583","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051236321","display_name":"Lyn S. Chitty","orcid":"https://orcid.org/0000-0002-4857-7138","observed_orcids":["https://orcid.org/0000-0002-4857-7138"]},"institutions":[{"id":"https://openalex.org/I1340918713","display_name":"University College London Hospitals NHS Foundation Trust","ror":"https://ror.org/042fqyp44","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Lyn S. Chitty","raw_affiliation_strings":["UCL Institute of Child Health, Genetics and Genomic Medicine, London, UK","University College London Hospitals NHS Foundation Trust London UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Child Health, Genetics and Genomic Medicine, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"University College London Hospitals NHS Foundation Trust London UK","institution_ids":["https://openalex.org/I1340918713"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Sarah Mason","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800349819","display_name":"Great Ormond Street Hospital for Children NHS Foundation Trust","ror":"https://ror.org/03zydm450","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Sarah Mason","raw_affiliation_strings":["N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I2800349819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003369937","display_name":"Angela N. Barrett","orcid":"https://orcid.org/0000-0002-4529-0940","observed_orcids":["https://orcid.org/0000-0002-4529-0940"]},"institutions":[{"id":"https://openalex.org/I2800349819","display_name":"Great Ormond Street Hospital for Children NHS Foundation Trust","ror":"https://ror.org/03zydm450","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Angela N. Barrett","raw_affiliation_strings":["N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I2800349819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003229525","display_name":"Fiona McKay","orcid":"https://orcid.org/0000-0003-3626-764X","observed_orcids":["https://orcid.org/0000-0003-3626-764X"]},"institutions":[{"id":"https://openalex.org/I2800349819","display_name":"Great Ormond Street Hospital for Children NHS Foundation Trust","ror":"https://ror.org/03zydm450","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Fiona McKay","raw_affiliation_strings":["N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"],"raw_orcid":"https://orcid.org/0000-0003-3626-764X","affiliations":[{"raw_affiliation_string":"N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I2800349819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030539748","display_name":"Nicholas Lench","orcid":"https://orcid.org/0000-0002-6108-0759","observed_orcids":["https://orcid.org/0000-0002-6108-0759"]},"institutions":[{"id":"https://openalex.org/I2800349819","display_name":"Great Ormond Street Hospital for Children NHS Foundation Trust","ror":"https://ror.org/03zydm450","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nicholas Lench","raw_affiliation_strings":["N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I2800349819"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027372344","display_name":"Rebecca Daley","orcid":"https://orcid.org/0000-0002-5137-7639","observed_orcids":["https://orcid.org/0000-0002-5137-7639"]},"institutions":[{"id":"https://openalex.org/I1340918713","display_name":"University College London Hospitals NHS Foundation Trust","ror":"https://ror.org/042fqyp44","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rebecca Daley","raw_affiliation_strings":["University College London Hospitals NHS Foundation Trust, London UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University College London Hospitals NHS Foundation Trust, London UK","institution_ids":["https://openalex.org/I1340918713"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113834578","display_name":"Lucy Jenkins","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800349819","display_name":"Great Ormond Street Hospital for Children NHS Foundation Trust","ror":"https://ror.org/03zydm450","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lucy A. Jenkins","raw_affiliation_strings":["N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK","institution_ids":["https://openalex.org/I2800349819"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5051236321"],"corresponding_institution_ids":["https://openalex.org/I1340918713","https://openalex.org/I45129253"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":{"value":4640,"currency":"USD","value_usd":4640},"fwci":25.8864,"has_fulltext":true,"cited_by_count":206,"citation_normalized_percentile":{"value":0.99749931,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":100},"biblio":{"volume":"35","issue":"7","first_page":"656","last_page":"662"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/noninvasive-prenatal-diagnosis","display_name":"noninvasive prenatal diagnosis","score":0.9459999799728394},{"id":"https://openalex.org/keywords/achondroplasia","display_name":"achondroplasia","score":0.9990000128746033},{"id":"https://openalex.org/keywords/thanatophoric-dysplasia","display_name":"thanatophoric dysplasia","score":1.0},{"id":"https://openalex.org/keywords/cell-free-fetal-dna","display_name":"cell-free fetal DNA","score":0.8169999718666077},{"id":"https://openalex.org/keywords/maternal-blood","display_name":"maternal blood","score":0.781000018119812},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.972000002861023},{"id":"https://openalex.org/keywords/monogenic-diseases","display_name":"monogenic disorders","score":0.8130000233650208},{"id":"https://openalex.org/keywords/de-novo-mutations","display_name":"de novo mutations","score":0.8299999833106995},{"id":"https://openalex.org/keywords/paternally-inherited-mutation","display_name":"paternally inherited mutation","score":0.9869999885559082},{"id":"https://openalex.org/keywords/diagnostic-accuracy","display_name":"diagnostic accuracy","score":0.42100000381469727}],"concepts":[{"id":"https://openalex.org/C2780472190","wikidata":"https://www.wikidata.org/wiki/Q340594","display_name":"Achondroplasia","level":2,"score":0.9660063982009888},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.8180592060089111},{"id":"https://openalex.org/C152110520","wikidata":"https://www.wikidata.org/wiki/Q14225730","display_name":"Cell-free fetal DNA","level":5,"score":0.6292988061904907},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.602834939956665},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.5046273469924927},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4599013328552246},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37098729610443115},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3707423210144043},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36447131633758545},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3635736405849457},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.3054983913898468},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.26400279998779297},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2245582640171051}],"mesh":[{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000130","descriptor_name":"Achondroplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D005188","descriptor_name":"False Negative Reactions","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013796","descriptor_name":"Thanatophoric Dysplasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D013796","descriptor_name":"Thanatophoric Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015415","descriptor_name":"Biomarkers","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D051498","descriptor_name":"Receptor, Fibroblast Growth Factor, Type 3","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D062145","descriptor_name":"Maternal Serum Screening Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1002/pd.4583","doi":"https://doi.org/10.1002/pd.4583","is_oa":true,"landing_page_url":"https://doi.org/10.1002/pd.4583","pdf_url":"https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.4583","source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3642178","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4657458","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4657458","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4657458","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenat Diagn","raw_type":"Text"},{"id":"pmid:25728633","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25728633","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal diagnosis","raw_type":"Comparative Study"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1468179","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1468179/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PRENATAL DIAGNOSIS , 35 (7) pp. 656-662. (2015)","raw_type":"Article"},{"id":"pmh:oai:figshare.com:article/23621718","doi":null,"is_oa":true,"landing_page_url":"https://figshare.com/articles/journal_contribution/Non-invasive_prenatal_diagnosis_of_achondroplasia_and_thanatophoric_dysplasia_next-generation_sequencing_allows_for_a_safer_more_accurate_and_comprehensive_approach/23621718","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1002/pd.4583","doi":"https://doi.org/10.1002/pd.4583","is_oa":true,"landing_page_url":"https://doi.org/10.1002/pd.4583","pdf_url":"https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.4583","source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Prenatal Diagnosis","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1093771497","display_name":null,"funder_award_id":"RP-PG-0707-10107","funder_id":"https://openalex.org/F4320335255","funder_display_name":"Programme Grants for Applied Research"},{"id":"https://openalex.org/G4556694785","display_name":"NIHR Senior Investigator Award","funder_award_id":"NF-SI-0513-10141","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"},{"id":"https://openalex.org/G7718388206","display_name":"Reliable Accurate Prenatal non-Invasive Diagnosis (RAPID) - an integrated project to refine and implement safer antenatal testing.","funder_award_id":"RP-PG-0707-10107","funder_id":"https://openalex.org/F4320319990","funder_display_name":"National Institute for Health and Care Research"}],"funders":[{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320320637","display_name":"Great Ormond Street Hospital Charity","ror":"https://ror.org/03vjq7x94"},{"id":"https://openalex.org/F4320335255","display_name":"Programme Grants for Applied Research","ror":"https://ror.org/0187kwz08"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2107488552.pdf","grobid_xml":"https://content.openalex.org/works/W2107488552.grobid-xml"},"referenced_works_count":27,"referenced_works":["https://openalex.org/W1499500424","https://openalex.org/W1513662956","https://openalex.org/W1576203165","https://openalex.org/W1584452031","https://openalex.org/W1597997618","https://openalex.org/W1604324416","https://openalex.org/W1898721843","https://openalex.org/W1967485093","https://openalex.org/W1973619455","https://openalex.org/W1981228068","https://openalex.org/W1986671812","https://openalex.org/W2007346530","https://openalex.org/W2012462356","https://openalex.org/W2025886884","https://openalex.org/W2062464354","https://openalex.org/W2064609638","https://openalex.org/W2068894833","https://openalex.org/W2070818261","https://openalex.org/W2089486503","https://openalex.org/W2095104340","https://openalex.org/W2097351942","https://openalex.org/W2099649389","https://openalex.org/W2100977485","https://openalex.org/W2112029686","https://openalex.org/W2115865929","https://openalex.org/W2146269990","https://openalex.org/W2163658785"],"related_works":["https://openalex.org/W2523155365","https://openalex.org/W2112304461","https://openalex.org/W2927837941","https://openalex.org/W3035137562","https://openalex.org/W2266280138","https://openalex.org/W2884751642","https://openalex.org/W2912687741","https://openalex.org/W103162135","https://openalex.org/W2126809006","https://openalex.org/W2912280830"],"abstract_inverted_index":{"OBJECTIVE:":[0],"Accurate":[1],"prenatal":[2,35,131,170],"diagnosis":[3,36,132,171],"of":[4,20,27,37,42,64,133,163,168],"genetic":[5],"conditions":[6],"can":[7],"be":[8],"challenging":[9],"and":[10,48,66,76,94,136,146],"usually":[11],"requires":[12],"invasive":[13],"testing.":[14],"Here,":[15],"we":[16],"demonstrate":[17],"the":[18,25,112,116,161,166],"potential":[19,155],"next-generation":[21],"sequencing":[22],"(NGS)":[23],"for":[24,172],"analysis":[26],"cell-free":[28,43],"DNA":[29,44],"in":[30,60,73,79,82,91,97,106,115,165],"maternal":[31],"blood":[32],"to":[33,129],"transform":[34],"monogenic":[38,174],"disorders.":[39,175],"METHODS:":[40],"Analysis":[41],"using":[45],"a":[46,56,151],"PCR":[47],"restriction":[49],"enzyme":[50],"digest":[51],"(PCR-RED)":[52],"was":[53,71,77,89,95],"compared":[54],"with":[55,84,99,109,120,153],"novel":[57],"NGS":[58,88,110,123,164],"assay":[59],"pregnancies":[61],"at":[62],"risk":[63],"achondroplasia":[65],"thanatophoric":[67],"dysplasia.":[68],"RESULTS:":[69],"PCR-RED":[70,145],"performed":[72,90],"72":[74],"cases":[75,93,118],"correct":[78,113],"88.6%,":[80],"inconclusive":[81,119],"7%":[83],"one":[85],"false":[86],"negative.":[87],"47":[92],"accurate":[96],"96.2%":[98],"no":[100],"inconclusives.":[101],"Both":[102],"approaches":[103],"were":[104],"used":[105],"27":[107],"cases,":[108],"giving":[111],"result":[114],"two":[117],"PCR-RED.":[121],"CONCLUSION:":[122],"provides":[124],"an":[125],"accurate,":[126],"flexible":[127],"approach":[128],"non-invasive":[130,169],"de":[134],"novo":[135],"paternally":[137],"inherited":[138],"mutations.":[139,157],"It":[140],"is":[141,147],"more":[142],"sensitive":[143],"than":[144],"ideal":[148],"when":[149],"screening":[150],"gene":[152],"multiple":[154],"pathogenic":[156],"These":[158],"findings":[159],"highlight":[160],"value":[162],"development":[167],"other":[173]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":20},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":29},{"year":2020,"cited_by_count":20},{"year":2019,"cited_by_count":15},{"year":2018,"cited_by_count":29},{"year":2017,"cited_by_count":19},{"year":2016,"cited_by_count":25},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2016-06-24T00:00:00"}
