In a story that blends joy and fear, Dr. Naseem Khorram, a 36-year-old nephrologist based in Los Angeles, faced a life-altering revelation while expecting her second child. During her typical prenatal bloodwork—initially undertaken to check for common chromosome abnormalities in her baby—she received startling news about her own health.

The routine test indicated her unborn child was fine, but the results also flagged "atypical" variations in her maternal chromosomal DNA. Initially, Dr. Khorram remained unconcerned, but the word “cancer” soon loomed ominously over her thoughts.

“I thought everything was normal,” she reflected. “I wasn’t prepared for the dread that followed. The first thought that crossed my mind was, 'Will I live long enough to see my daughters grow up?' Thankfully, I will.”

Her obstetrician quickly recommended a full-body MRI to investigate the atypical results further. However, complications arose when her insurance approved the procedure, but the hospital where she sought care turned her away, stating they did not conduct whole-body scans. In a leap of faith, Dr. Khorram joined a study at the National Institutes of Health (NIH) aimed at examining women with similar abnormal prenatal DNA testing results.

Through this research, she finally received the MRI that revealed the devastating truth: she had stage II Hodgkin lymphoma, a cancer that affects the lymphatic system. “We need protocols in place to ensure that atypical results are taken seriously,” Dr. Khorram emphasized. “We can’t ignore the possibility that something serious might be happening.”

Following her diagnosis, Dr. Khorram embarked on chemotherapy while maintaining her pregnancy. Miraculously, she completed treatment just two weeks before welcoming her daughter into the world, an experience she described as both terrifying and miraculously rewarding.

Now cancer-free, Dr. Khorram cherishes every moment with her daughters, aged three years and four months. “My older daughter sensed something was wrong, even if we didn’t tell her anything,” she shared. “She always stayed close. My younger daughter, however, is all smiles and joy, reminding me how fortunate we are.”

Dr. Khorram’s story is not unique. She participated in an NIH study involving 107 women who experienced abnormal prenatal DNA sequencings. Astonishingly, nearly 49% of participants were later diagnosed with various forms of cancer, shedding light on an urgent need for enhanced screening protocols. Dr. Diana Bianchi, who led the study, stressed the importance of understanding these findings. “We don't want pregnant individuals to panic,” she noted. “But if you have unusual results, ensure further testing is done.”

While prenatal genetic testing aims to identify concerns like Down syndrome via DNA fragments found in maternal blood, it has unforeseen implications. Tumors also release DNA fragments, and thus could inadvertently signal potential cancers.

The ongoing research suggests a concerning connection: abnormal prenatal DNA sequencing often intersects with cancer diagnoses. For instance, researchers discovered that a pattern termed “chaotic” across multiple chromosomes was prevalent in participants later confirmed to have cancer.

Dr. Bianchi implores the medical community to treat pregnant people with urgency and provide timely interventions: “Pregnant individuals deserve the same proactive healthcare as anyone else. We have concrete data showing that timely chemotherapy during pregnancy can be safe and potentially life-saving.”

As the incidence of cancer rises, particularly among younger adults, Dr. Sarah Kim from Memorial Sloan Kettering Cancer Center emphasizes the opportunity for early detection through advanced technologies, such as cell-free DNA testing. Yet, challenges persist in reliably detecting all cancer types, especially gynecological cancers.

The conversation on how to best utilize these technologies is crucial, as many study participants exhibited hidden cancers without any apparent symptoms. For instance, conditions like abdominal pain or rectal bleeding—common during pregnancy—were dismissed as typical symptoms, delaying critical diagnoses.

As the medical community navigates these findings, one thing is clear: fostering awareness about the potential of prenatal testing could save lives. Dr. Khorram’s experience underscores the importance of self-advocacy in health care, especially in unexpected or atypical situations. As she moves forward, she remains grateful for her health and the brightness of her daughters’ future.

“Awareness is key,” she concluded. “We must advocate for ourselves. It could very well be a matter of life or death.”