Blood Tests To Screen Moms For Fetal Conditions Could Uncover Hidden Signs Of Cancer
During pregnancy, some expectant mothers choose to have blood tests to screen for fetal conditions like Down syndrome. On rare occasions, these tests may uncover signs of hidden cancer in the mother.
In a recent study conducted by researchers at the National Institutes of Health (NIH), which involved 107 pregnant women with unusual test results, 52 were later diagnosed with cancer. While most received treatment and are currently in remission, seven with advanced cases sadly passed away.
“They looked like healthy, young women, and they reported themselves as being healthy,” explained Dr. Diana Bianchi, a senior author of the study.
Known as cell-free DNA sequencing (cfDNA), the blood test examines DNA fragments from the placenta found in the mother’s bloodstream to detect an extra chromosome or determine the baby’s gender.
Among the millions of pregnant women who undergo cell-free DNA testing each year, about 1 in 10,000 will receive an unusual result that’s not clearly positive nor negative for a fetal abnormality. This rare group, roughly 250 women annually in the United States, might be at risk for cancer.
“They and their care providers need to take the results seriously and have additional testing because, in that population, there is a 48% risk of cancer,” stated Dr. Bianchi.
For the latest study, the research team screened 107 IDENTIFY participants for cancer using a combination of whole-body magnetic resonance imaging (MRI), standard medical diagnostic tests, and cfDNA sequencing.
The NIH’s IDENTIFY study aims to better understand abnormal cfDNA test results that may signal possible cancers.
Out of the participants, 52 were diagnosed with previously undetected cancer, or 48.6%. The most commonly discovered cancers were lymphoma blood cancers. Other cancers included breast, colorectal, lung, and pancreatic cancers.
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The results revealed that whole-body MRI was the most effective tool for detecting these cancers. In contrast, standard diagnostic methods, like medical history reviews, symptom assessments, and physical exams, were less effective in identifying the presence or location of cancer.
Some abnormal cfDNA results were linked to fibroids (noncancerous uterine tumors), differences between placental and fetal chromosomes, or clonal hematopoiesis in the mother, a precancerous condition that may lead to blood cancers.
The researchers emphasized how further studies are necessary to confirm the cfDNA sequencing patterns they identified, which could signal cancer in young, pregnant women who show no clear clinical symptoms.
Various medical organizations recommended that cell-free DNA testings be offered during pregnancy, but many expectant parents choose to decline this optional screening.
While these tests are considered accurate for identifying Down syndrome and two other conditions, they have faced criticism for generating too many false positives for very rare fetal issues.
To read the study’s complete findings, which have since been published in the New England Journal of Medicine, visit the link here.
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