Prenatal cfDNA testing can reveal undiagnosed cancers in asymptomatic pregnant individuals, offering early detection.

About 48.6% of pregnant women who underwent prenatal cell-free DNA (cfDNA) tests got abnormal results that eventually led to the screening of undetected cancers in them (1^✔ ✔Trusted Source
Abnormal prenatal blood test results could indicate hidden maternal cancers

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Cancer Detection During Pregnancy

The cfDNA testing was primarily developed to screen for chromosomal disorders in the fetus and to determine the baby’s gender by analyzing placental DNA fragments in the mother’s blood.
The research was conducted by the National Institutes of Health (NIH) and published in the New England Journal of Medicine. Colorectal, breast, lung, and pancreatic cancers, as well as lymphoma, cholangiocarcinoma, and renal carcinoma, were detected by the cfDNA testing.

In addition to fetal DNA, cfDNA testing detects DNA released from the mother’s red blood stem cells and, occasionally, abnormal DNA that may result from undetected cancer in the asymptomatic pregnant person. NIH’s ongoing IDENTIFY study seeks to learn more about abnormal cfDNA test results that could indicate potential cancers. For the current analysis, researchers performed cancer screening of 107 IDENTIFY participants using whole-body magnetic resonance imaging (MRI), standard medical diagnostic tests, and cfDNA sequencing.

Cancer Detection Methods for Abnormal cfDNA Results

A total of 52 participants were diagnosed with cancer. For this group, the authors found that whole-body MRI was the most effective method for detecting cancer. Standard diagnostic techniques, such as taking a medical history, assessing symptoms, and physical examination, were of limited use in identifying a participant’s cancer or its location.
Other abnormal cfDNA results were attributed to fibroids (benign uterine tumors), placental chromosomes that differed from fetal chromosomes, and clonal hematopoiesis in the mother (a precancerous state that can lead to blood cancers). The researchers noted the need for additional studies to validate cfDNA sequencing patterns described by the investigators that could indicate cancer in this young, pregnant population without obvious clinical symptoms.

The study was conducted by researchers at NIH’s National Human Genome Research Institute, National Cancer Institute, and Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Reference:

1. Abnormal prenatal blood test results could indicate hidden maternal cancers – (https://www.nih.gov/news-events/news-releases/abnormal-prenatal-blood-test-results-could-indicate-hidden-maternal-cancers)

Source-Eurekalert