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Multiple Myeloma Detected by Noninvasive Prenatal Testing.
Katherine A Devitt1,2, Juli-Anne Gardner1,2
1Larner College of Medicine, University of Vermont, Burlington, VT.
Journal of the Association of Genetic Technologists
|March 3, 2023
Summary
Noninvasive prenatal testing (NIPT) can detect fetal aneuploidies. Rarely, abnormal NIPT results may indicate occult maternal malignancy, such as multiple myeloma, as seen in this case.
Area of Science:
- Reproductive Medicine
- Oncology
- Genetics
Background:
- Noninvasive prenatal testing (NIPT) screens for fetal aneuploidies using cell-free fetal DNA (cffDNA).
- NIPT is highly sensitive and specific, offered in the first trimester.
- Maternal malignancy during pregnancy is rare (1 in 1,000), but NIPT can detect occult tumors.
Purpose of the Study:
- To present a case of multiple myeloma diagnosed after abnormal NIPT results.
- To highlight the potential of NIPT in detecting unexpected maternal conditions.
Main Methods:
- Utilized NIPT to screen for fetal aneuploidies.
- Investigated abnormal NIPT findings that were not fetal in origin.
Main Results:
- Abnormal NIPT results prompted further investigation.
- A 38-year-old woman was diagnosed with multiple myeloma.
Conclusions:
- NIPT can occasionally identify maternal occult malignancies.
- This case underscores the importance of considering maternal conditions when interpreting abnormal NIPT results.
