Prediction of fetal blood group and platelet antigens from maternal plasma using next-generation sequencing

Transfusion ◽  
2019 ◽  
Vol 59 (3) ◽  
pp. 1102-1107 ◽  
Author(s):  
Agnieszka Orzińska ◽  
Katarzyna Guz ◽  
Michal Mikula ◽  
Anna Kluska ◽  
Aneta Balabas ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Maternal Plasma ◽  
Next Generation ◽  
Fetal Blood ◽  
Generation Sequencing

scholarly journals Potential of Next-Generation Sequencing in Noninvasive Fetal Molecular Blood Group Genotyping

2020 ◽  
Vol 47 (1) ◽  
pp. 14-22 ◽  
Author(s):  
Sandra Wienzek-Lischka ◽  
Sandy Bachmann ◽  
Vanessa Froehner ◽  
Gregor Bein
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Massively Parallel Sequencing ◽  
False Negative ◽  
Bleeding Complications ◽  
Next Generation ◽  
Fetal Blood ◽  
Group Allele ◽  
Generation Sequencing ◽  
Fetal Fraction

Hemolytic disease of the fetus and newborn and fetal and neonatal alloimmune thrombocytopenia are caused by maternal antibodies against fetal alloantigens on red blood cells or platelets that are inherited from the father. After transplacental transport to the fetal circulation, antibodies of the IgG class may cause severe fetal anemia or bleeding complications. The indication for noninvasive fetal blood group genotyping is given if a clinically relevant antibody is detected in a pregnant woman and if the father is heterozygous (or unknown) for the implicated blood group allele. This mini-review will focus on the advantages and current limitations of next-generation sequencing (NGS) for noninvasive diagnosis of fetal blood groups which is, in contrast to fetal aneuploidy screening, proposed only by some research groups. Targeted massively parallel sequencing of short DNA fragments from maternal cell-free plasma samples enables counting of fetal alleles for many single nucleotide polymorphisms in parallel. This information can be utilized for estimation of the fetal fraction of cell-free DNA (cfDNA) as well as detection of the paternal blood group allele in question. Adherence to a cut-off of ≥4% fetal fraction for reporting conclusive results is recommended to avoid false-negative results due to low fetal fraction. For screening purposes of fetal RHD in RhD-negative pregnant women, real-time PCR methods are very well established. However, for diagnostic purposes, the targeted amplicon-based NGS approach has the inherent capability to estimate the fetal fraction of cfDNA. In the future, improving the accuracy of NGS by consensus sequencing of single cfDNA molecules may enable reliable fetal blood group genotyping already in the first trimester of pregnancy.

scholarly journals Next-generation sequencing is a credible strategy for blood group genotyping

2014 ◽  
Vol 167 (4) ◽  
pp. 554-562 ◽  
Author(s):  
Yann Fichou ◽  
Marie-Pierre Audrézet ◽  
Paul Guéguen ◽  
Cédric Le Maréchal ◽  
Claude Férec
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Technologies in Blood Group Typing

2019 ◽  
Vol 47 (1) ◽  
pp. 4-13 ◽  
Author(s):  
Daniel Fürst ◽  
Chrysanthi Tsamadou ◽  
Christine Neuchel ◽  
Hubert Schrezenmeier ◽  
Joannis Mytilineos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Large Scale ◽  
Cost Effective ◽  
Molecular Testing ◽  
Blood Group Antigens ◽  
Next Generation ◽  
Sequencing Technologies ◽  
Blood Group Typing ◽  
Generation Sequencing

Sequencing of the human genome has led to the definition of the genes for most of the relevant blood group systems, and the polymorphisms responsible for most of the clinically relevant blood group antigens are characterized. Molecular blood group typing is used in situations where erythrocytes are not available or where serological testing was inconclusive or not possible due to the lack of antisera. Also, molecular testing may be more cost-effective in certain situations. Molecular typing approaches are mostly based on either PCR with specific primers, DNA hybridization, or DNA sequencing. Particularly the transition of sequencing techniques from Sanger-based sequencing to next-generation sequencing (NGS) technologies has led to exciting new possibilities in blood group genotyping. We describe briefly the currently available NGS platforms and their specifications, depict the genetic background of blood group polymorphisms, and discuss applications for NGS approaches in immunohematology. As an example, we delineate a protocol for large-scale donor blood group screening established and in use at our institution. Furthermore, we discuss technical challenges and limitations as well as the prospect for future developments, including long-read sequencing technologies.

P090 Development of a next generation sequencing based ABO blood group assay and typing software

2017 ◽  
Vol 78 ◽  
pp. 120
Author(s):  
William J. Lane ◽  
Helen Mah ◽  
John Baronas ◽  
Abigail Joseph ◽  
Judith Aeschlimann ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Abo Blood Group ◽  
Next Generation ◽  
Generation Sequencing
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