Real-world performance of a clinical droplet digital polymerase chain reaction assay for non-invasive foetal blood group and platelet antigen genotyping of alloimmunized pregnant women with antibodies directed against RhD, RhE, Rhc, RhC, K1, HPA-1a or HPA-5b: A 1-year experience

被引：0

作者：

Calandrini, Camilla ^{[1
,7
]}

Verhagen, Onno J. H. M. ^{[1
]}

Tissoudali, Ahmed ^{[2
]}

Homburg, Christa H. E. ^{[5
]}

Vessies, Jessica ^{[2
,8
]}

Brussee, Mark ^{[2
,9
]}

van Beers, Erik H. ^{[1
]}

van Der Schoot, C. Ellen ^{[4
]}

de Haas, Masja ^{[1
,2
,3
,6
]}

机构：

[1] Sanquin, Sanquin Diagnost Serv, Clin Lab Advise, Amsterdam, Netherlands

[2] Sanquin, Dept Immunohematol Diagnost, Sanquin Diagnost Serv, Amsterdam, Netherlands

[3] Sanquin Blood Supply, Amsterdam, Netherlands

[4] Sanquin, Dept Expt Immunohematol, Amsterdam, Netherlands

[5] Sanquin, Dept Immunocytol, Sanquin Diagnost Serv, Amsterdam, Netherlands

[6] Leiden Univ, Med Ctr, Dept Hematol, Leiden, Netherlands

[7] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[8] Amsterdam UMC, Dept Human Genet, Amsterdam, Netherlands

[9] Rode Kruis Ziekenhuis, Beverwijk, Netherlands

来源：

VOX SANGUINIS | 2025年 / 120卷 / 02期

关键词：

alloimmunization; ddPCR; FNAIT; HDFN; pregnancy; MATERNAL PLASMA; DNA; PREDICTION; KELL;

D O I：

10.1111/vox.13777

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background and ObjectivesTo test the performance of a new droplet digital polymerase chain reaction (ddPCR) non-invasive foetal blood group and platelet antigen genotyping assay in the setting of a Dutch reference laboratory for foetal blood group and platelet antigen genotyping. Our population comprised 229 consecutive alloimmunized pregnant women who presented between April 2022 and March 2023 with 250 requests for non-invasive foetal RHD, RHE, RHc, RHC, K1, HPA-1a or HPA-5b blood group and platelet antigen genotyping.Materials and MethodsSamples were genotyped for blood group and platelet antigen alleles along with methylated RASSF1a (mRASSF1a) and sex-determining region of Y (SRY) and DYS14 as positive foetal controls. Negative blood group and platelet antigen results were issued only when foetal controls were positive; otherwise, such samples were classified as inconclusive.ResultsThe assay achieved a success rate of 98.4% (246 of 250) because one case was lost to follow-up, one case was solved with quantitative polymerase chain reaction (qPCR) and one case precluded foetal typing due to RHD variant mothers. Only 10 cases needed a second sample and one case a third for a valid final result. We identified 116 maternal-foetal blood group and platelet antigen incompatibilities.ConclusionClinical non-invasive foetal blood group and platelet antigen typing of alloimmunized pregnant women via ddPCR is successful and represents an improvement over qPCR because of the addition of a foetal control and because ddPCR circumvents potential interference from maternal cell-free DNA (cfDNA) background for foetal HPA-1 and K1.

引用

页码：170 / 177

页数：8