scholarly journals Noninvasive Antenatal Determination of Fetal Blood Group Using Next-Generation Sequencing

2015 ◽  
Vol 6 (1) ◽  
pp. a023093 ◽  
Author(s):  
Klaus Rieneck ◽  
Frederik Banch Clausen ◽  
Morten Hanefeld Dziegiel
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Next Generation ◽  
Fetal Blood ◽  
Generation Sequencing

The use of next-generation sequencing for the determination of rare blood group genotypes

2017 ◽  
Vol 29 (3) ◽  
pp. 162-168 ◽  
Author(s):  
M. A. Jakobsen ◽  
C. Dellgren ◽  
C. Sheppard ◽  
M. Yazer ◽  
U. Sprogøe
Keyword(s):  
Next Generation Sequencing ◽  
Blood Group ◽  
Next Generation ◽  
Generation Sequencing

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.

A Benchmark of Structural Variant Analysis Tools for Next Generation Sequencing Data

2013 ◽  
Vol 2 (4) ◽  
pp. 86-98
Author(s):  
Chatzinikolaou Panagiotis ◽  
Makris Christos ◽  
Dimitrios Vlachakis ◽  
Sophia Kossida
Keyword(s):  
Next Generation Sequencing ◽  
Level Structure ◽  
Atomic Level ◽  
Protein Sequencing ◽  
Next Generation Sequencing Data ◽  
Next Generation ◽  
Sequencing Data ◽  
Variant Analysis ◽  
Generation Sequencing

In language of genetics and biochemistry, sequencing is the determination of an unbranched biopolymer's primary structure. A sequence is a symbolic linear depiction, result of sequencing. This sequence is a succinct summary of the most of the sequenced molecule's atomic-level structure. (Most known is DNA-sequencing, RNA-sequencing, Protein-sequencing and Next-Generation-sequencing)

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.

scholarly journals Next-Generation Sequencing of HIV-1 RNA Genomes: Determination of Error Rates and Minimizing Artificial Recombination

PLoS ONE ◽  
2013 ◽  
Vol 8 (9) ◽  
pp. e74249 ◽  
Author(s):  
Francesca Di Giallonardo ◽  
Osvaldo Zagordi ◽  
Yannick Duport ◽  
Christine Leemann ◽  
Beda Joos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Error Rates ◽  
Next Generation ◽  
Generation Sequencing ◽  
Hiv 1

scholarly journals Gestational Psittacosis With Secondary Hemophagocytic Syndrome: A Case Report and Literature Review

2021 ◽  
Vol 8 ◽  
Author(s):  
Li Sun ◽  
Pulin Li ◽  
Bo Pang ◽  
Peipei Wu ◽  
Ran Wang
Keyword(s):  
Bone Marrow ◽  
Next Generation Sequencing ◽  
Hemophagocytic Syndrome ◽  
Nk Cell ◽  
Cell Activity ◽  
Lung Infection ◽  
Next Generation ◽  
Nk Cell Activity ◽  
Generation Sequencing

Gestational psittacosis and hemophagocytic syndrome (HPS) are rare clinical diseases. In this article, a case of gestational psittacosis concomitant with secondary HPS was reported. An analysis was performed on the clinical characteristics, signs, laboratory findings, progression, diagnosis, and treatment of a patient with gestational psittacosis concomitant with secondary HPS. Besides, the literature with respect to this disease was reviewed. This patient was definitively diagnosed through metagenomic next-generation sequencing techniques, bone marrow puncture and smear examination, and the determination of sCD25 level and natural killer (NK) cell activity. Anti-infectives such as doxycycline and etoposide combined with hormone chemotherapy achieved significant improvement in cough and expectoration, a return to normal temperature, and a significant improvement in oxygenation index. In addition, chest computed tomography revealed obvious absorption of lung lesions and a return of NK cell activity and sCD25 levels to normal ranges. Chlamydia psittaci pneumonia requires a clear determination of etiology, while HPS requires bone marrow puncture and smear examination, together with the determination of sCD25 level and NK cell activity in the blood. The findings of this study suggest that metagenomic next-generation sequencing is an effective instrument in clearly identifying pathogens that cause lung infection. Clinicians should consider atypical pathogens of lung infection in patients with poor response to empirical anti-infectives, and strive to design an effective treatment strategy as per an accurate diagnosis based on the etiology. As for patients suffering from long-term high fever and poor temperature control after broad-spectrum antibiotic treatment, non-infectious fever should be taken into account. A rapid and clear diagnosis would significantly improve patient prognosis.

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