Fetal Aneuploid Tests Can Spot Occult Cancer in Pregnant Women

HealthDay News — Almost half of pregnant or postpartum women with unusual or nonreportable clinical cell-free (cf)DNA-sequencing results have occult cancer, according to a study published in the New England Journal of Medicine.

Amy E. Turriff, from the Center for Precision Health Research in Bethesda, Maryland, and colleagues performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable from 1 of 12 commercial laboratories. A uniform cancer screening protocol was used, including rapid whole-body magnetic resonance imaging (MRI), laboratory tests, and standardized cfDNA sequencing with the use of a genome-wide platform. The presence of cancer after the initial cancer screening evaluation was examined as the primary outcome.

The researchers found that in the initial cohort, cancer was present in 52 of 107 participants (48.6%). Whole-body MRI had a sensitivity of 98.0% and specificity of 88.5% for detecting occult cancer. For identifying patients with cancer, physical examination and laboratory tests were of limited use. Forty-nine participants had a combination of copy-number gains and losses across multiple chromosomes (3 or more); 47 (95.9%) with this sequencing pattern had cancer. Participants with nonmalignant conditions, such as fibroids, had sequencing patterns of cfDNA in which there were only chromosomal gains or only chromosomal losses.

“Our results support the use of whole-body MRI in the evaluation of pregnant persons who receive prenatal cfDNA-sequencing results suggestive of cancer,” the authors write.

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