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Published on: August 17, 2022
Next-generation sequencing-based approach for fetal DNA quantification and blood antigen detection in alloimmunized
Tesfai Emahazion1, Ahlam Badri2, Elisabeth Jalkesten2
1Department of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden (Emahazion, Badri, Jalkesten, and Wikman); Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institute, Huddinge, Sweden (Emahazion and Wikman).
Next-generation sequencing noninvasive prenatal testing accurately identifies fetal blood antigens from maternal plasma. This allows for precise management of alloimmunized pregnancies, improving targeted care for at-risk newborns.
Area of Science:
- Genetics
- Immunology
- Obstetrics
Background:
- Erythrocyte and platelet alloimmunization in pregnancy poses risks, often with unknown fetal blood types.
- Current monitoring methods lack fetal genetic information, necessitating invasive procedures.
- Next-generation sequencing (NGS) offers a noninvasive alternative for fetal antigen determination.
Purpose of the Study:
- To validate an NGS method for detecting fetal blood antigens in maternal plasma.
- To assess the accuracy of noninvasive prenatal testing (NIPT) for identifying erythrocyte and platelet antigens.
- To improve management of alloimmunized pregnancies through precise fetal risk assessment.
Main Methods:
- Maternal plasma samples from 74 pregnant women were analyzed using NGS.
- A prototype kit detected erythrocyte, human platelet antigen (HPA-1, HPA-5), and Y chromosome markers.
- Fetal DNA results were compared with newborn cord blood genotyping for concordance.
Main Results:
- Fetal DNA was successfully identified in 97.3% of cases.
- NIPT results showed 100% concordance with newborn genotypes.
- Among 22 immunized pregnancies, 10 fetuses were antigen-positive, and 6 were antigen-negative.
Conclusions:
- NGS-based NIPT is feasible for comprehensive fetal antigen screening.
- This technology enables personalized management of alloimmunized pregnancies.
- Accurate identification of fetal antigens enhances precision in targeted prenatal care.
