{"id":"https://openalex.org/W2986322256","doi":"https://doi.org/10.1182/blood-2019-127945","title":"Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum","display_name":"Non-Invasive Prenatal Diagnosis (NIPD) of Sickle-Cell Disease By Massively Parallel Sequencing of Cell-Free Fetal DNA in Maternal Serum","publication_year":2019,"publication_date":"2019-11-13","ids":{"openalex":"https://openalex.org/W2986322256","doi":"https://doi.org/10.1182/blood-2019-127945","mag":"2986322256"},"language":"en","primary_location":{"id":"doi:10.1182/blood-2019-127945","doi":"https://doi.org/10.1182/blood-2019-127945","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2019-127945","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"},"volume":null,"type":"conference-abstract","is_traditional":false,"indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065295252","display_name":"Yvonne Daniel","orcid":"https://orcid.org/0000-0003-2259-3866","observed_orcids":["https://orcid.org/0000-0003-2259-3866"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yvonne Daniel","raw_affiliation_strings":["Special Haematology, Viapath Analytics, London, GBR"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Special Haematology, Viapath Analytics, London, GBR","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012244854","display_name":"Julia C. van Campen","orcid":"https://orcid.org/0000-0002-7016-1366","observed_orcids":["https://orcid.org/0000-0002-7016-1366"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Julia Van Campen","raw_affiliation_strings":["Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom","institution_ids":["https://openalex.org/I1298207432","https://openalex.org/I200166805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089938500","display_name":"Lee Silcock","orcid":"https://orcid.org/0009-0000-2806-1778","observed_orcids":["https://orcid.org/0009-0000-2806-1778"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lee Silcock","raw_affiliation_strings":["Nonacus Ltd., Birmingham, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nonacus Ltd., Birmingham, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Michael Yau","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Michael Yau","raw_affiliation_strings":["Genetics Laboratory, Viapath Analytics, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Laboratory, Viapath Analytics, London, United Kingdom","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051088789","display_name":"Joo Wook Ahn","orcid":"https://orcid.org/0000-0002-5628-2321","observed_orcids":["https://orcid.org/0000-0002-5628-2321"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Joo Wook Ahn","raw_affiliation_strings":["Genetics Laboratory, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Laboratory, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom","institution_ids":["https://openalex.org/I1298207432","https://openalex.org/I200166805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049601909","display_name":"Caroline Mackie Ogilvie","orcid":"https://orcid.org/0000-0001-6827-0443","observed_orcids":["https://orcid.org/0000-0001-6827-0443"]},"institutions":[{"id":"https://openalex.org/I1298207432","display_name":"Guy's Hospital","ror":"https://ror.org/04r33pf22","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1298207432","https://openalex.org/I200166805","https://openalex.org/I4210111135"]},{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]},{"id":"https://openalex.org/I200166805","display_name":"Guy's and St Thomas' NHS Foundation Trust","ror":"https://ror.org/00j161312","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I200166805"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Caroline Ogilvie","raw_affiliation_strings":["Department of Medical and Molecular Genetics, King's College London, London, United Kingdom","Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom","Department of Medical and Molecular Genetics, King's College London, London, United Kingdom; Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical and Molecular Genetics, King's College London, London, United Kingdom","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom","institution_ids":["https://openalex.org/I1298207432","https://openalex.org/I200166805"]},{"raw_affiliation_string":"Department of Medical and Molecular Genetics, King's College London, London, United Kingdom; Genetics Laboratories, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom","institution_ids":["https://openalex.org/I183935753","https://openalex.org/I200166805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113751855","display_name":"Kathy Mann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kathy Mann","raw_affiliation_strings":["Genetics Laboratories, Viapath Analytics, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics Laboratories, Viapath Analytics, London, United Kingdom","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5072148442","display_name":"Eugene Oteng\u2010Ntim","orcid":"https://orcid.org/0000-0001-8867-2909","observed_orcids":["https://orcid.org/0000-0001-8867-2909"]},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Eugene Oteng-Ntim","raw_affiliation_strings":["Department of Women and Children's Health, King's College London, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women and Children's Health, King's College London, London, United Kingdom","institution_ids":["https://openalex.org/I183935753"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":5500,"currency":"USD","value_usd":5500},"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"134","issue":"Supplement_1","first_page":"2085","last_page":"2085"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9423999786376953,"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":0.9423999786376953,"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/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.049400001764297485,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0005000000237487257,"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/sickle-cell-disease","display_name":"sickle cell disease","score":0.8799999952316284},{"id":"https://openalex.org/keywords/noninvasive-prenatal-diagnosis","display_name":"noninvasive prenatal diagnosis","score":0.9980000257492065},{"id":"https://openalex.org/keywords/cell-free-fetal-dna","display_name":"cell-free fetal DNA","score":0.9919999837875366},{"id":"https://openalex.org/keywords/maternal-plasma","display_name":"maternal plasma","score":0.8259999752044678},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.7879999876022339},{"id":"https://openalex.org/keywords/unique-molecular-identifiers","display_name":"unique molecular identifiers","score":0.8930000066757202},{"id":"https://openalex.org/keywords/fetal-fraction","display_name":"fetal fraction","score":0.7089999914169312},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.8140000104904175}],"concepts":[{"id":"https://openalex.org/C152110520","wikidata":"https://www.wikidata.org/wiki/Q14225730","display_name":"Cell-free fetal DNA","level":5,"score":0.794846773147583},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.7349967956542969},{"id":"https://openalex.org/C2777966818","wikidata":"https://www.wikidata.org/wiki/Q473768","display_name":"Amniocentesis","level":5,"score":0.6292570233345032},{"id":"https://openalex.org/C2776555163","wikidata":"https://www.wikidata.org/wiki/Q1076497","display_name":"Chorionic villus sampling","level":5,"score":0.6164240837097168},{"id":"https://openalex.org/C192800701","wikidata":"https://www.wikidata.org/wiki/Q6784807","display_name":"Massive parallel sequencing","level":4,"score":0.6004368662834167},{"id":"https://openalex.org/C2779245376","wikidata":"https://www.wikidata.org/wiki/Q28693","display_name":"Miscarriage","level":3,"score":0.5908301472663879},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5529621839523315},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.5294263958930969},{"id":"https://openalex.org/C2778194526","wikidata":"https://www.wikidata.org/wiki/Q901674","display_name":"Amniotic fluid","level":4,"score":0.4360588788986206},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.43463143706321716},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41952696442604065},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.38999250531196594},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3549674153327942},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2682577967643738},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.19036531448364258},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.14249351620674133},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13133153319358826}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1182/blood-2019-127945","doi":"https://doi.org/10.1182/blood-2019-127945","is_oa":false,"landing_page_url":"https://doi.org/10.1182/blood-2019-127945","pdf_url":null,"source":{"id":"https://openalex.org/S200071133","display_name":"Blood","issn_l":"0006-4971","issn":["0006-4971","1528-0020"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Blood","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3008668452","https://openalex.org/W2920988282","https://openalex.org/W2783931518","https://openalex.org/W2610474962","https://openalex.org/W4223900120","https://openalex.org/W2550147910","https://openalex.org/W2907485367","https://openalex.org/W4393104589","https://openalex.org/W7160528031","https://openalex.org/W4405095991"],"abstract_inverted_index":{"Sickle":[0],"cell":[1,109,419,529],"disease":[2,110,420],"(SCD)":[3],"is":[4,30,60,95,467,509],"the":[5,25,89,96,135,145,199,217,221,238,249,256,265,273,294,297,309,335,357,370,390,400,468,487,497,515],"most":[6,97],"common":[7],"genetic":[8],"haematological":[9],"disorder":[10],"worldwide.":[11],"Around":[12],"300.000":[13],"affected":[14],"infants":[15],"are":[16,44,500],"born":[17],"every":[18],"year,":[19],"including":[20,170],"at":[21,480,525],"least":[22],"1000":[23],"in":[24,88,92,247,319,369],"United":[26],"States.":[27],"Prenatal":[28],"diagnosis":[29,58,67,87,284],"currently":[31],"carried":[32],"out":[33,331],"using":[34,150],"amniotic":[35],"fluid":[36],"or":[37,159,208,285,339,461],"chorionic":[38],"villus":[39],"sampling.":[40],"These":[41],"invasive":[42,85,282],"procedures":[43],"perceived":[45,74],"to":[46,62,187,219,351,367,422,440,470,485,495,517,521],"have":[47],"a":[48,122,126,138,192,231,259,441,490],"small":[49],"risk":[50,481,526],"of":[51,55,65,102,118,121,130,137,147,223,251,258,264,296,302,332,359,482,527],"miscarriage.":[52],"The":[53,262,425],"availability":[54],"non-invasive":[56],"prenatal":[57,66,86,283],"(NIPD)":[59],"predicted":[61],"increase":[63],"uptake":[64],"for":[68,144,198,237,312,329,373,435,507],"SCD,":[69,246],"as":[70,107,114,278,447,449],"it":[71],"has":[72,111,514],"no":[73,458],"miscarriage":[75],"risk.":[76],"NIPD":[77,101,146,473,506],"may":[78],"also":[79],"be":[80],"more":[81],"readily":[82],"implemented":[83],"than":[84],"low-resource":[90],"countries":[91],"which":[93,434],"SCD":[94,149,176,185,204,508],"prevalent.":[98],"However,":[99],"accurate":[100],"autosomal":[103],"recessive":[104],"disorders":[105],"such":[106],"sickle":[108,276,403,418,528],"proven":[112],"challenging":[113],"this":[115,405],"requires":[116],"detection":[117,235,250],"fetal":[119,148,152,275,310,402,443],"inheritance":[120],"maternal":[123,155,203],"allele":[124,227,234],"from":[125,154,174,182,202,241,321,409,415,446,478],"mixed":[127],"maternal-fetal":[128],"pool":[129],"cell-free":[131,151,253,305],"DNA.":[132],"We":[133,190,229],"report":[134],"development":[136],"targeted":[139],"massively":[140],"parallel":[141],"sequencing":[142],"assay":[143,266,488],"DNA":[153,254,306,352],"plasma.":[156],"No":[157],"paternal":[158],"previous":[160],"offspring":[161],"samples":[162,167,173,181,201,240,320,380,408,414,429,437,477],"were":[163,168,397,453,457],"required.":[164],"44":[165,333],"clinical":[166,475,511],"analysed,":[169],"37":[171,200,395],"plasma":[172,180,476],"pregnant":[175],"carriers":[177,205],"and":[178,225,383,412,494,513],"7":[179,239,427],"women":[183,242,411,416,522],"with":[184,243,272,315,376,399,417,523],"due":[186,421],"Hb":[188,209,423],"SC.":[189,424],"used":[191,230],"relative":[193],"mutation":[194],"dosage":[195],"based":[196],"approach":[197,236,325],"(Hb":[206],"AS":[207],"AC),":[210],"integrating":[211],"Unique":[212,360],"Molecular":[213,361],"Identifiers":[214],"(UMIs)":[215],"into":[216,389],"analysis":[218,301],"improve":[220],"accuracy":[222,295],"wildtype":[224,233,252],"mutant":[226],"counts.":[228],"separate":[232],"compound":[244],"heterozygous":[245],"whom":[248],"indicates":[255],"presence":[257],"carrier":[260,410,428],"fetus.":[261],"success":[263],"was":[267,337,438],"evaluated":[268],"by":[269],"comparing":[270],"results":[271,371,387,396],"established":[274,401],"status":[277],"determined":[279],"through":[280],"either":[281],"newborn":[286],"screening.":[287],"During":[288],"development,":[289],"two":[290],"key":[291],"factors":[292],"improved":[293,326],"results:":[298],"i)":[299],"Selective":[300],"only":[303],"smaller":[304],"fragments":[307],"enhanced":[308],"fraction":[311],"all":[313],"samples,":[314,334,375],"greater":[316],"effects":[317],"observed":[318],"earlier":[322],"gestations.":[323],"This":[324,365,465,502],"diagnostic":[327],"accuracy:":[328],"3":[330,377,436],"genotype":[336],"inconclusive":[338,379,391,432,498],"incorrect":[340],"before":[341],"size":[342,347],"selection,":[343],"but":[344],"correct":[345],"after":[346],"selection.":[348],"ii)":[349],"Modifications":[350],"fragment":[353],"hybridisation":[354],"capture":[355],"optimised":[356],"diversity":[358],"Identifier-tagged":[362],"molecules":[363],"analysed.":[364],"led":[366],"improvements":[368],"obtained":[372],"5":[374],"previously":[378,385],"correctly":[381],"called":[382],"2":[384],"discrepant":[386],"moved":[388],"range.":[392],"In":[393],"total,":[394],"concordant":[398],"status;":[404],"included":[406],"30/37":[407],"7/7":[413],"remaining":[426],"gave":[430],"an":[431],"result,":[433],"attributed":[439],"low":[442],"fraction.":[444],"Samples":[445],"early":[448],"8":[450],"weeks":[451],"gestation":[452],"successfully":[454],"genotyped.":[455],"There":[456],"false":[459,462],"positive":[460],"negative":[463],"results.":[464],"study":[466,503],"largest":[469],"use":[471],"NGS-based":[472],"on":[474,489],"pregnancies":[479,524],"SCD.":[483],"Efforts":[484],"validate":[486],"larger":[491],"sample":[492],"cohort":[493],"reduce":[496],"rate":[499],"warranted.":[501],"shows":[504],"that":[505],"approaching":[510],"utility":[512],"potential":[516],"provide":[518],"increased":[519],"choice":[520],"disease.":[530],"Disclosures":[531],"Silcock:":[532],"Nonacus":[533],"Ltd.:":[534],"Employment.":[535]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2019-11-22T00:00:00"}
