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More than an Incidentaloma: The Nonreportable NIPT
Allison M Jay1, Brian Mason2, Daniel Lebovic3
1Ascension St. John Genetics, 19229 Mack Ave, Grosse Pointe, MI 48236, USA.
Case Reports in Obstetrics and Gynecology
|May 10, 2022
Summary
Noninvasive prenatal testing (NIPT) can yield nonreportable results due to various factors. This case highlights the importance of considering maternal malignancy, such as lymphoma, in patients with recurrent nonreportable NIPT findings.
Area of Science:
- Obstetrics and Gynecology
- Medical Genetics
- Clinical Diagnostics
Background:
- Noninvasive prenatal testing (NIPT) is a common screening tool for fetal aneuploidies like Trisomies 21, 18, and 13.
- Approximately 0.3% of NIPT results are nonreportable due to reasons such as low fetal fraction, vanishing twin, or maternal conditions.
- Maternal malignancy occurs in about 1 in 1000 pregnancies and can be a rare cause of nonreportable NIPT results.

