Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital

Next Generation Sequencing-Based Fetal ABO Blood Group Prediction by Analysis of Cell-Free DNA from Maternal Plasma

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


  1. Transfusion-Associated Immunomodulation:Experimental Facts and Clinical Reality – New Perspectives

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Adherence to guidelines on red blood cell transfusions in women having post-partum haemorrhage

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Blødning i tredje trimester og placentakomplikationer

    Publikation: Bidrag til bog/antologi/rapportBidrag til bog/antologiUndervisningpeer review

  3. Is cesarean section a cause of affective disorders?-A national cohort study using sibling designs

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Maternal age and risk of cesarean section in women with induced labor at term - a Nordic register-based study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Introduction: ABO blood group incompatibility between a pregnant woman and her fetus as a cause of morbidity or mortality of the fetus or newborn remains an important, albeit rare, risk. When a pregnant woman has a high level of anti-A or anti-B IgG antibodies, the child may be at risk for hemolytic disease of the fetus and newborn (HDFN). Performing a direct prenatal determination of the fetal ABO blood group can provide valuable clinical information.

Objective: Here, we report a next generation sequencing (NGS)-based assay for predicting the prenatal ABO blood group.

Materials and Methods: A total of 26 plasma samples from 26 pregnant women were tested from gestational weeks 12 to 35. Of these samples, 20 were clinical samples and 6 were test samples. Extracted cell-free DNA was PCR-amplified using 2 primer sets followed by NGS. NGS data were analyzed by 2 different methods, FASTQ analysis and a grep search, to ensure robust results. The fetal ABO prediction was compared with the known serological infant ABO type, which was available for 19 samples.

Results: There was concordance for 19 of 19 predictable samples where the phenotype information was available and when the analysis was done by the 2 methods. For immunized pregnant women (n = 20), the risk of HDFN was predicted for 12 fetuses, and no risk was predicted for 7 fetuses; one result of the clinical samples was indeterminable. Cloning and sequencing revealed a novel variant harboring the same single nucleotide variations as ABO*O.01.24 with an additional c.220C>T substitution. An additional indeterminable result was found among the 6 test samples and was caused by maternal heterozygosity. The 2 indeterminable samples demonstrated limitations to the assay due to hybrid ABO genes or maternal heterozygosity.

Conclusions: We pioneered an NGS-based fetal ABO prediction assay based on a cell-free DNA analysis from maternal plasma and demonstrated its application in a small number of samples. Based on the calculations of variant frequencies and ABO*O.01/ABO*O.02 heterozygote frequency, we estimate that we can assign a reliable fetal ABO type in approximately 95% of the forthcoming clinical samples of type O pregnant women. Despite the vast genetic variations underlying the ABO blood groups, many variants are rare, and prenatal ABO prediction is possible and adds valuable early information for the prevention of ABO HDFN.

TidsskriftTransfusion Medicine and Hemotherapy (Print Edition)
Udgave nummer1
Sider (fra-til)45-53
Antal sider9
StatusUdgivet - feb. 2020

Bibliografisk note

Copyright © 2020 by S. Karger AG, Basel.

ID: 60979972