Abnormal or unreportable NIPT can help detect cancer during pregnancy

Recent results from the National Institutes of Health (NIH) IDENTIFY trial found that 48.6% of pregnant women who had previous abnormal or unreportable non-invasive prenatal testing (NIPT) results for prenatal cell-free DNA (cfDNA) testing ) had received undetected cancers. Screening for chromosomal abnormalities in the fetus.

The results reported in the New England Journal of Medicine, showed that the cancers found included colon, breast, lung and pancreatic cancer, as well as lymphoma, cholangiocarcinoma and kidney cancer.

NIPT analyzes cfDNA released from the mother’s blood and stem cells and is designed to determine the baby’s risk of developing common genetic disorders such as Down syndrome and trisomies 13, 18 or 21. However, a few years later, these blood tests became widely available, reports of falsely abnormal NIPT emerged, but follow-up amniocentesis or chorionic villus sampling (CVS) of the baby was normal.

Diana Bianchi, MD, chief of the division of prenatal genomics and therapeutics at the NIH, said in an informational video on the IDENTIFY study website: “In some cancers, the tumor releases DNA into the mother’s blood, and it is the genetic abnormalities of.” Tumors detected by NIPT. Over 100 cases of maternal cancer detected by NIPT have now been documented, mostly in women who are well and have no symptoms.”

The IDENTIFY study evaluated 107 participants with unusual or non-reportable NIPT results. Whole-body magnetic resonance imaging (MRI), laboratory testing and advanced cfDNA sequencing were used. A total of 52 participants were diagnosed with cancer, including breast, colon and pancreatic cancer, as well as lymphoma and kidney carcinoma. Whole-body MRI was found to be the most effective method for detecting these cancers, with a sensitivity of 98% and a specificity of 88.5%.

According to Christina Annunziata, MD, PhD, senior vice president of the American Cancer Society, detection rates for maternal cancer when multiple abnormalities occur on NIPT vary across studies. “Some previous studies have estimated the risk of maternal cancer to be 20 to 45% when multiple abnormalities are detected by NIPT. Recent studies have documented higher cancer detection rates, ranging from 70 to 86%,” she said in a video on the IDENTIFY study website.

The IDENTIFY study also aims to address gaps in understanding and responding to abnormal NIPT results. “There is a lot of confusion right now when these false positive or unreportable results show up in pregnancy clinics,” Bianchi said. “Many gynecologists and other health care providers have never seen results like these before and may not be familiar with the significance of these results to maternal health.”

The study uses a standardized cancer assessment protocol. Researchers found that cfDNA sequencing patterns could help distinguish between cancer and other diseases such as fibroids or clonal hematopoiesis, a precancerous condition. For example, participants with sequencing patterns that showed a mix of chromosome gains and losses had a 95.9 percent chance of developing cancer, compared to other patterns more commonly associated with benign diseases.

Research shows that women who receive abnormal or unreportable NIPT results should seek additional testing.

“Pregnancy is not a reason to delay the examination. We recommend that anyone who receives an unreportable or false-positive NIPT result undergo a thorough examination in a timely manner, even if you feel well and have no symptoms. Most cancers have a better chance of being cured when diagnosed and treated at an early stage, and many cancer treatments can be administered safely during pregnancy,” Annunziata said.