As part of an ongoing study, researchers from the National Human Genome Research Institute and National Cancer Institute, both based in Bethesda, Md., investigated the best diagnostic approach for pregnant persons who receive cell-free DNA sequencing results.
Here are five notes from the study:
- Cell-free DNA sequence analysis is used to screen for fetal aneuploidy but can also incidentally detect cancer.
- Participants were 18 years or older, were pregnant or had been within the previous two years postpartum and had undergone cell-free DNA sequencing from one of 12 U.S. commercial laboratories.
- Between Dec. 23, 2019, and Dec. 4, 2023, 117 eligible participants were enrolled in the study, with 107 having complete data available for analysis.
- Post-sequencing cancer-screening protocols utilized in the study were rapid, whole-body MRI, blood tests, measurement of serum tumor markers, a fecal occult blood test, family and medical history intake, physical examination with a review of oncologic symptoms, and pap smears, when relevant.
- Of the 107 participants, 48.6% were diagnosed with cancer. MRI had a 98% sensitivity rate and a 88.5% specificity rate for cancer detection. Other examination and testing protocols were found to have “limited use” for detecting cancer.
“Whole-body MRI was safe, efficient and the most effective method for detecting cancer,” the study authors wrote. “Our results support the use of whole-body MRI in the evaluation of pregnant persons who receive prenatal cfDNA-sequencing results suggestive of cancer.”
Read the full study analysis here.
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