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Updated: Feb 25, 2026

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Cell-Free DNA Integrity Analysis in Urine Samples
Published on: January 5, 2017
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Cell-free DNA results lead to unexpected diagnosis
Jessica Smith1,2, Victoria Kean3, Diana W Bianchi4
1Department of Pediatrics Center for Molecular Medicine and Genetics Wayne State University Detroit Michigan.
Clinical Case Reports
|August 8, 2017
Abstract:
Maternal cell-free DNA (cfDNA) results that are discordant with the diagnostic fetal karyotype should prompt further investigation. If deeper analysis of the cfDNA results demonstrates a "saw-tooth" pattern characteristic of genome-wide imbalance, maternal malignancy is suggested. Identifying the maternal malignancy can, however, be difficult.

