A new scientific review published in Clinica Chimica Acta suggests that digital PCR (dPCR), a highly sensitive genetic testing technology, could make prenatal testing for conditions like FNAIT both safer and more accessible.
FNAIT is a rare condition that occurs when a mother’s immune system produces antibodies against her baby’s platelets, which can lead to dangerously low platelet counts, intracranial bleeding or even stillbirth. Early detection is critical to avoid these complications, but current tests can be invasive and carry their own risks.
Unlike traditional methods such as amniocentesis, which involve sampling fetal cells directly, non-invasive prenatal testing (NIPT) relies on analyzing fragments of fetal DNA that circulate in the mother’s blood. Because fetal DNA is present in such tiny amounts, distinguishing it from the mother’s DNA has always been a challenge. But dPCR overcomes this by splitting DNA into thousands of micro-reactions and precisely counting genetic sequences, even when they are rare.
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Recent studies have found that droplet digital PCR (ddPCR) can detect four key platelet genes (HPA-1, -3, -5 and -15) in maternal blood. The researchers say that means high-risk pregnancies could be identified without invasive procedures, giving families and clinicians more time to plan interventions and protect the baby.
Beyond FNAIT, the review notes that dPCR is proving valuable across a wide range of genetic and pregnancy-related conditions, from common chromosomal disorders like Down syndrome to single-gene diseases such as hemophilia.
Yet, there are still hurdles to overcome before dPCR becomes widely available, including high costs and the need for standardized protocols. The researchers note that sensitivity also needs to be improved for use in early pregnancy when fetal DNA is especially scarce.
Looking ahead, experts believe dPCR could be combined with other technologies, such as sequencing or microarrays, to broaden its reach.
“With continued technological improvements, digital PCR is expected to become a critical tool in non-invasive prenatal diagnosis, offering more accurate and efficient solutions for clinical practice and pregnancy health management,” the study authors concluded.
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