Cell-free DNA (cfDNA) testing is a highly accurate method of determining pregnancies at risk of hemolytic disease of the fetus and newborn (HDFN), according to findings recently published in the American Journal of Obstetrics and Gynecology.
Although significant progress has been made to improve the diagnosis and management of HDFN, delayed diagnosis and treatment continue to contribute to poor outcomes. Thus, there is a need for strategies that can quickly and accurately identify potential cases of HDFN.
cfDNA contains fetal DNA fragments that have been released into the maternal bloodstream. Because HDFN arises due to incompatibility between maternal and fetal red blood cell antigens, cfDNA may offer a safe method of identifying cases of HDFN via a simple blood test.
Amniocentesis, a test used to sample the amniotic fluid, is commonly used to assess red blood cell antigen status. This procedure carries a small risk of injury to the fetus or miscarriage, though, that may be avoided with cfDNA testing.
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In their review, the authors identified 84 studies published between 2000 and 2024 comprising 77,187 unique antigen samples.
Findings revealed that cfDNA testing identified fetal red blood cell antigen status with 99% sensitivity and specificity, indicating very high levels of diagnostic accuracy. A variety of laboratory techniques were utilized to detect fetal antigen status, all with similar levels of reliability.
The authors cautioned that cfDNA tests do not currently screen for all possible antigens that may cause hemolytic diseases. However, they do assess the antigens that most commonly cause HDFN. Additionally, cfDNA analysis is not recommended for use in pregnant individuals who have received organ or bone marrow transplants.
“Encouragingly, the evidence presented in this review, which represents the first meta-analysis study on this topic, supports the broader implementation of cfDNA in the [United States], potentially setting the stage for it to become the standard of care,” the study concluded.
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