Next-generation sequencing of 35 RHD variants in 16 253 serologically D− pregnant women in the Finnish population
dc.contributor.author | Tammi, SM | |
dc.contributor.author | Tounsi, WA | |
dc.contributor.author | Sainio, S | |
dc.contributor.author | Kiernan, Michele | |
dc.contributor.author | Avent, Neil | |
dc.contributor.author | Madgett, TE | |
dc.contributor.author | Haimila, K | |
dc.date.accessioned | 2020-11-06T09:06:54Z | |
dc.date.issued | 2020-10-27 | |
dc.identifier.issn | 2473-9529 | |
dc.identifier.issn | 2473-9537 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/16637 | |
dc.description.abstract |
<jats:title>Abstract</jats:title> <jats:p>Fetal RHD screening for targeted routine antenatal anti-D prophylaxis has been implemented in many countries, including Finland, since the 2010s. Comprehensive knowledge of the RHD polymorphism in the population is essential for the performance and safety of the anti-D prophylaxis program. During the first 3 years of the national screening program in Finland, over 16 000 samples from RhD− women were screened for fetal RHD; among them, 79 samples (0.5%) containing a maternal variant allele were detected. Of the detected maternal variants, 35 cases remained inconclusive using the traditional genotyping methods and required further analysis by next-generation sequencing (NGS) of the whole RHD gene to uncover the variant allele. In addition to the 13 RHD variants that have been previously reported in different populations, 8 novel variants were also detected, indicating that there is more variation of RHD in the RhD− Finnish population than has been previously known. Three of the novel alleles were identified in multiple samples; thus, they are likely specific to the original Finnish population. National screening has thus provided new information about the diversity of RHD variants in the Finnish population. The results show that NGS is a powerful method for genotyping the highly polymorphic RHD gene compared with traditional methods that rely on the detection of specific nucleotides by polymerase chain reaction amplification.</jats:p> | |
dc.format.extent | 4994-5001 | |
dc.format.medium | ||
dc.language | en | |
dc.language.iso | en | |
dc.publisher | American Society of Hematology | |
dc.subject | Female | |
dc.subject | Finland | |
dc.subject | High-Throughput Nucleotide Sequencing | |
dc.subject | Humans | |
dc.subject | Pregnancy | |
dc.subject | Pregnant Women | |
dc.subject | Prenatal Diagnosis | |
dc.subject | Rh-Hr Blood-Group System | |
dc.title | Next-generation sequencing of 35 RHD variants in 16 253 serologically D− pregnant women in the Finnish population | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Research Support, Non-U.S. Gov't | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000582796200003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 20 | |
plymouth.volume | 4 | |
plymouth.publication-status | Published | |
plymouth.journal | Blood Advances | |
dc.identifier.doi | 10.1182/bloodadvances.2020001569 | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/Faculty of Health/School of Biomedical Sciences | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/Research Groups | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED) | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR | |
plymouth.organisational-group | /Plymouth/Research Groups/Plymouth Institute of Health and Care Research (PIHR) | |
plymouth.organisational-group | /Plymouth/Users by role | |
plymouth.organisational-group | /Plymouth/Users by role/Academics | |
dc.publisher.place | United States | |
dcterms.dateAccepted | 2020-08-11 | |
dc.rights.embargodate | 2020-11-7 | |
dc.identifier.eissn | 2473-9537 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1182/bloodadvances.2020001569 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2020-10-27 | |
rioxxterms.type | Journal Article/Review |