Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma

Klaus Rieneck; Mads Bak; Lars Jønson; Frederik Banch Clausen; Grethe Risum Krog; Niels Tommerup; Leif Kofoed Nielsen; Morten Hedegaard; Morten Hanefeld Dziegiel

doi:10.1111/trf.12172

Next-generation sequencing

Authors:

Rieneck, Klaus ;
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
Bak, Mads ;
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0000-0003-2762-1002
Medical Genetics Program, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
Jønson, Lars ;
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Section of Teaching, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, Københavns Universitet
Clausen, Frederik Banch ;
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unknown
Krog, Grethe Risum ;
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unknown
Tommerup, Niels ;
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Medical Genetics Program, Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
Nielsen, Leif Kofoed ;
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
Hedegaard, Morten ;
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Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
Dziegiel, Morten Hanefeld
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Section of Diagnostic Sciences, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet

Subtitle:

proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma

DOI:

10.1111/trf.12172

Abstract:

BACKGROUND: Maternal immunization against KEL1 of the Kell blood group system can have serious adverse consequences for the fetus as well as the newborn baby. Therefore, it is important to determine the phenotype of the fetus to predict whether it is at risk. We present data that show the feasibility of predicting the fetal KEL1 phenotype using next-generation sequencing (NGS) technology. STUDY DESIGN AND METHODS: The KEL1/2 single-nucleotide polymorphism was polymerase chain reaction (PCR) amplified with one adjoining base, and the PCR product was sequenced using a genome analyzer (GAIIx, Illumina); several millions of PCR sequences were analyzed. RESULTS: The results demonstrated the feasibility of diagnosing the fetal KEL1 or KEL2 blood group from cell-free DNA purified from maternal plasma. CONCLUSION: This method requires only one primer pair, and the large amount of sequence information obtained allows well for statistical analysis of the data. This general approach can be integrated into current laboratory practice and has numerous applications. Besides DNA-based predictions of blood group phenotypes, platelet phenotypes, or sickle cell anemia, and the determination of zygosity, various conditions of chimerism could also be examined using this approach. To our knowledge, this is the first report focused on antenatal blood group determination using NGS.

Type:

Journal article

Language:

English

Published in:

Transfusion, 2013, Vol 53, Issue 11 Suppl 2, p. 2892-2898

Keywords:

Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't

Main Research Area:

Medical science

Publication Status:

Published

Review type:

Peer Review

Submission year:

2013

Scientific Level:

Scientific

ID:

247282572

Next-generation sequencing

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