Can maternal malignancy affect NIPT results, and if so, how?

Can maternal malignancy affect NIPT results, and if so, how?

• A. No effect on Panorama results.
• B. It only affects results if cancer is in the fetus.
• C. It improves detection of fetal aneuploidy.
• D. Yes; maternal cancer can shed abnormal cfDNA that may influence results or mimic chromosomal abnormalities.

Answer: (D)

NIPT analyzes cell-free DNA circulating in maternal blood that comes from both the placenta (fetal DNA) and the mother. If a mother has a tumor, the cancer sheds its own cfDNA into the bloodstream, and this tumor-derived DNA can carry chromosomal alterations. When this abnormal DNA mixes with fetal DNA, it can create sequencing patterns that resemble fetal chromosomal abnormalities or distort the apparent fetal chromosome dosage. That’s why maternal cancer can influence NIPT results and sometimes mimic or mask true fetal abnormalities, leading to discordant or false-positive findings. If such atypical results occur, clinicians may pursue diagnostic testing for the fetus and consider evaluating the mother for possible malignancy as part of the follow-up. Other scenarios—no effect, only matters if the fetus has cancer, or that it improves detection—don’t fit because maternal cfDNA, including tumor-derived cfDNA, can alter the assay signal even when the fetus is healthy.

NIPT analyzes cell-free DNA circulating in maternal blood that comes from both the placenta (fetal DNA) and the mother. If a mother has a tumor, the cancer sheds its own cfDNA into the bloodstream, and this tumor-derived DNA can carry chromosomal alterations. When this abnormal DNA mixes with fetal DNA, it can create sequencing patterns that resemble fetal chromosomal abnormalities or distort the apparent fetal chromosome dosage. That’s why maternal cancer can influence NIPT results and sometimes mimic or mask true fetal abnormalities, leading to discordant or false-positive findings. If such atypical results occur, clinicians may pursue diagnostic testing for the fetus and consider evaluating the mother for possible malignancy as part of the follow-up. Other scenarios—no effect, only matters if the fetus has cancer, or that it improves detection—don’t fit because maternal cfDNA, including tumor-derived cfDNA, can alter the assay signal even when the fetus is healthy.