Dr. Naseem Khorram, a nephrologist based in Los Angeles, found herself in an unexpected and terrifying situation during her second pregnancy. Initially expecting the standard routine bloodwork to bring no issues, she was shocked to receive atypical test results, indicating potential health concerns that prompted further investigation. This routine screening was aimed at detecting any chromosomal abnormalities in her fetus, like Down syndrome, yet it unveiled risks surrounding Khorram’s own health.
Despite being healthy and having a successful pregnancy thus far, Khorram felt shaken when her results indicated “atypical for maternal chromosomal DNA variants.” The results showed that while her baby was fine, there were alarming signs related to her health. She learned that such atypical results could stem from benign issues, like fibroids, but they could also suggest a high likelihood of malignancy. Her obstetrician-gynecologist promptly recommended a full-body MRI (Magnetic Resonance Imaging) to check for any cancer presence.
A wave of fear washed over Khorram as she reflected on the possibility of having cancer. As a mother, her foremost concern became whether she would witness her daughters grow up. The anguish of the unknown weighed heavily on her; however, she was determined to pursue answers and ensure her health for the sake of her family.
When the insurance company approved the MRI, the hospital refused to perform the whole-body scan, stating its unavailability. This left Khorram with limited options until she enrolled in a study at the National Institutes of Health (NIH), aimed at examining women like herself who received abnormal prenatal DNA-sequencing results. Thanks to her participation, she was able to have a full-body MRI and was ultimately diagnosed with stage II Hodgkin lymphoma—a lymphatic system cancer.
The experience was harrowing for Khorram, prompting her to advocate for better protocols within the healthcare system. She emphasized the necessity for healthcare personnel, including radiologists and insurers, to recognize the importance of further investigations when an atypical test result is encountered. Her personal journey galvanized her commitment to ensuring that future patients received appropriate imaging and diagnostic follow-up.
Immediately starting her chemotherapy after the diagnosis, Khorram navigated the challenges of treatment while maintaining her pregnancy healthily. She was fortunate to complete her treatment just two weeks before welcoming her newborn daughter into the world.
Now cancer-free, Khorram reflects on her past experiences with gratitude, determined to value family moments, especially during the holiday season with her daughters. She articulates her feelings about her older daughter’s perceptiveness during the ordeal, noting how the young child sensed something was amiss without being explicitly told. Her younger daughter, full of joy even at four months old, serves as a radiant reminder of life’s preciousness.
Khorram was one of 107 participants in a recent NIH study investigating how prenatal cell-free DNA sequencing might detect cancer in mothers inadvertently. Published in the *New England Journal of Medicine*, the study found a staggering 48.6% of participants with unusual prenatal DNA-sequencing results were eventually diagnosed with cancer.
Dr. Diana Bianchi, the senior author of the study, cautioned against alarmism, emphasizing that the findings pertain to a specific population segment rather than the general pregnant community. Her remarks indicate that while the incidence of this issue might seem significant, expecting mothers should not equate atypical results with immediate malignancy. A pledge was made for more meticulous follow-up testing when these results surface, highlighting the essentiality of not overlooking potential health risks.
Regular prenatal genetic testing aims to discover conditions like fetal aneuploidy, and this research indicates that tumor DNA might also leak into maternal circulation. Researchers hope that improved recognition of aberrant DNA patterns can lead to earlier cancer detection and treatment, ultimately saving more lives.
As advancements in prenatal testing evolve, experts stress the importance of aligning these medical technologies with credible protocols to mitigate unnecessary anxiety among expectant mothers while safeguarding their health. Bianchi predicts that gaining insights from these findings will lead to more tailored and effective screenings, benefiting future patients significantly.
While the risks remain low, it is increasingly recognized that more women may experience undiagnosed cancers during pregnancy, nurturing the need for ongoing research and adaptation of testing methodologies. Ultimately, the goal must always be to facilitate timely cancer detection while considering the unique circumstances surrounding pregnant individuals’ healthcare needs.