Cancer clue? Here’s how fetal tests can save a mother’s life

Until now, prenatal tests have been all about the health of the fetus but, as it turns out, they can be life-saving for the mother too, helping doctors uncover cancers in pregnant women by way of testing their unborn babies.

As it happens, cancer during pregnancy is rare, but rising maternal age and growing cancer rates among young adults suggest more cases could emerge. However, a noninvasive prenatal test (NIPT) might be a tool for early detection in expecting mothers, according to a report by Scientific American published on March 24.

Specifically, as the report reads, back in 2013, Dr. Susan Klugman, a leading obstetrician and geneticist, received an unusual lab report after her pregnant patient underwent an NIPT with an aim to screen for Down syndrome and other chromosomal conditions.

NIPT tests reveal deadly abnormality

The weirdness in question? A lethal chromosomal abnormality in the fetus – one that should be impossible for a viable pregnancy, and yet the baby turned out healthy. Sadly, the mother passed away a few months after the birth from renal cancer, which made Klugman suspect there was a connection.

This revelation marked the beginning of a groundbreaking medical discovery – prenatal tests like NIPT, intended primarily for fetal screening and used in more than 60 countries, can inadvertently detect cancers in pregnant women, 

In 2019, Diana Bianchi, director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, launched a study called IDENTIFY to explore this unexpected phenomenon, examining cases where prenatal test results showed impossible chromosomal patterns in healthy fetuses.

Out of 107 participants in a 2022 study, almost 50% went on to be diagnosed with cancer – many without prior symptoms, including Erica Lucca, a then-33-year-old healthy woman whose life was saved thanks to her participation in the study.

Following up with the oddities hailed by the IDENTIFY study of Lucca’s baby, she was found to have an eight-centimeter mass in her chest – an aggressive form of non-Hodgkin’s lymphoma. She started chemotherapy and gave birth to a healthy son just weeks after completion.

Obstacles in using fetal tests for maternal cancer diagnosis

Despite the promise of early detection, the integration of cancer screening into prenatal care faces significant obstacles. These include the lack of training among obstetricians to recognize cancer risks, oncologists’ hesitance in treating pregnant patients, and insurance companies denying coverage for follow-up testing.

As Bianchi explained, there’s also a lot of “historical culture of ‘don’t touch a pregnant woman’”:

“One of our challenges in the beginning of the study was to find interventional radiologists who were comfortable doing a diagnostic biopsy, wherever it was, if the woman was pregnant.”

But they eventually succeeded. Now, the problem remains spreading the word, which, according to Klugman, may require obstetricians, insurance executives, and perhaps even politicians to take the results obtained through NIPT testing seriously in order to save maternal lives.

Meanwhile, artificial intelligence (AI) may help in identifying cancer, as it has demonstrated near-perfect success rates, by far trumping that of doctors, suggesting that cancer specialists should employ the evolving technology to accurately, quickly, and affordably identify the disease and monitor treatment.