Next-generation sequencing (NGS), an advanced form of genetic sequencing, may improve screening for a variety of diseases, including hemolytic disease of the fetus and newborn (HDFN), according to results recently published in the American Journal of Obstetrics & Gynecology MFM.
Alloimmunization occurs when a pregnant individual’s immune system produces antibodies against proteins on the fetus’ blood cells called antigens. Alloimmunization against fetal platelet antigens is not typically monitored during pregnancy without due cause, such as a history of alloimmunized pregnancies.
Screening for the RhD antigen, which is found on red blood cells, is routine in many countries. However, testing for other fetal antigens that may result in alloimmunization (such as Kell and HPA-1a) is less common, in part due to the fact that analysis of these antigens often requires more sensitive tools.
NGS is a highly precise, non-invasive method of screening for both platelet and red blood cell antigens and may offer a new tool for monitoring alloimmunized pregnancies.
Read more about HDFN testing and diagnosis
In their study, the authors collected blood samples from 74 pregnant individuals between 13 and 27 weeks’ gestation in Sweden. NGS was performed on each sample and results were compared with findings from umbilical cord blood sampling after birth.
Of the 74 participants, fetal DNA was successfully detected in 72 (97.3%) cases. Fetal DNA was not identified in two samples due to a lack of markers included in the NGS panel.
Additionally, of the 22 alloimmunized women in the study, six fetuses were negative for the antigen in question, 10 fetuses tested positive, five had antigens that were not covered in the NGS panel and one case was inconclusive.
Results from NGS were in 100% agreement with findings from umbilical cord blood testing in newborns, supporting the accuracy of NGS in identifying fetal antigens.
“Our study highlights the feasibility of using next-generation sequencing for comprehensive fetal antigen screening, paving the way for a personalized approach to managing alloimmunized pregnancies,” the authors wrote.
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