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Many expectant mothers opt for blood tests during pregnancy to screen for fetal disorders such as Down syndrome. In rare cases, these tests may reveal something unexpected – signs of hidden cancer in the woman.
In a study of 107 pregnant women who had abnormal test results, 52 were ultimately diagnosed with cancer. Most of them were treated and have now recovered, although seven people with advanced cancer died. Read this also Blood Cancer in Pregnancy: Tips to Balance Treatment and Motherhood
“They looked like healthy, young women, and they described themselves as healthy,” said Dr. Diana Bianchi, senior author of the government study published Wednesday in the New England Journal of Medicine.
Of the cancers discovered, lymphoma blood cancers were the most common, followed by colon and breast cancers.
The blood test is called cell-free DNA sequencing. It looks for fetal problems in DNA fragments shed from the placenta into the mother’s bloodstream. It can also pick up DNA fragments left by cancer cells.
Of the millions of pregnant women who undergo cell-free DNA testing each year, about 1 in 10,000 will get a result that is unusual and difficult to interpret, neither positive or negative for a fetal abnormality. This small number of people – perhaps only 250 per year in the US – may be at risk for cancer. Read this also Every pregnancy helps reduce endometrial cancer risk: researchers
“They and their care providers need to take the results seriously and get additional testing because there is a 48% risk of cancer in that population,” said Bianchi, who leads the National Institute of Child Health and Human Development.
The study looked at what needs to be done next, and researchers concluded that it is best to perform a whole-body MRI to detect cancer. A physical exam or taking a family history is not enough, Bianchi said.
About five years ago, commercial laboratories and doctors who perform these tests began telling women with abnormal results about the study. The National Institutes of Health paid for study volunteers to travel to its research hospital in Bethesda, Maryland, where participants’ family and medical histories were reviewed, a complete physical examination, a whole-body MRI scan, and other tests were performed.
Study findings:
Bianchi said the research identified a recognizable “very chaotic” pattern in the DNA sequencing of women with cancer. Studies are ongoing to find more evidence about who should be screened for cancer.
Many medical groups now recommend offering cell-free DNA testing during pregnancy, although many prospective parents decide against the alternative test. Tests once considered reliable for detecting Down syndrome and two other disorders have come under scrutiny due to a number of false alarms for extremely rare fetal problems. Read this also Pregnant women should think twice before undergoing chemotherapy
Dr. Neeta Vora, director of reproductive genetics at the University of North Carolina at Chapel Hill, who wrote an editorial in the journal, said the new discovery will help educate doctors about the rare outcome of DNA tests in pregnancy.
Doctors caring for pregnant women are not accustomed to ordering whole-body MRI tests, Vora said, and these scans, which can cost $1,000 to $2,000, may not be covered by health insurance.
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