NIPS, a prenatal screening test based on cell free DNA technologies, has a high sensitivity and specificity for the detection of common fetal aneuploidies. However, these tests can also detect incidental findings. In rare cases, chromosomal abnormalities (typically more complex than seen in common fetal aneuploidy cases) can reflect changes in the mother’s cells, such as maternal cancer, unrelated to the pregnancy. Currently, there are no professional recommendations to assist healthcare professionals regarding what to do if a NIPS result indicates potential risk for maternal cancer. An expert review has been published that provides a suggested approach to pretest counseling for a typical pregnant patient as well as next steps in case of a NIPS report suggestive of maternal cancer (Rink et al., Obstetrics and Gynecology, 2022)
Note: High-risk cfDNA results for a single trisomy or monosomy X are not expected to confer an increased risk for maternal malignancy, even when fetal diagnostic testing is normal | Likely explanation related to mosaicism (placental, fetal or maternal) or co-twin demise
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