A recent study published in The New England Journal of Medicine has found that nearly half of pregnant women who received abnormal results from non-invasive prenatal testing (NIPT) had underlying maternal cancers. The research, led by Diana Bianchi and Neeta Vora, analyzed data from 107 participants with suspicious NIPT results but healthy fetuses, revealing a significant number of cancer diagnoses.
The study found that among the 52 women diagnosed with cancer, many were asymptomatic when they received their abnormal test results. In fact, 29 out of those 52 had no noticeable symptoms. The researchers identified various types of cancers, including colorectal, breast, and Ewing sarcoma, as well as stage 4 cancers that have spread to other organs.
The findings suggest that women receiving abnormal NIPT results should consider further testing, such as a whole-body MRI scan, to hunt for tumors. However, there are still barriers to accessing this type of care outside of research studies.
Advancing technology has made screening for fetal abnormalities more widespread, but the test behind the new study became available about 10 years ago. Cell-free DNA sequence analysis, or NIPT, involves taking a maternal blood sample at least 10 weeks into pregnancy and analyzing it for DNA markers associated with chromosomal disorders.
The researchers hope that their findings will heighten awareness among obstetricians who prescribe this screening test, leading to more women receiving necessary follow-up care.
Source: https://www.science.org/content/article/unusual-genetic-results-prenatal-tests-can-also-flag-cancers-mom