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Genetics

Poster Session 3

(727) One laboratory’s experience with prenatal cfDNA screening and incidental findings concerning for maternal neoplasia

Wednesday, February 14, 2024
8:30 AM – 10:00 AM  
Location: Prince George's Exhibit Hall CDE, Lower Atrium Level
Objective: Cell-free DNA (cfDNA) prenatal screening has been increasingly utilized in pregnancies, and aims to provide fetal genetic information. However, incidental detection of maternal neoplasia has been reported by some cfDNA methodologies; particularly massively parallel sequencing (MPS). This cohort reviews cases submitted for cfDNA screening with nonreportable results by MPS due to multiple chromosome abnormalities, increasing concern for possible underlying maternal neoplasia.

Study Design: Maternal blood samples submitted for cfDNA screening were subjected to DNA extraction, library preparation, and genome-wide MPS. Nonreportable cases with concerning sequencing profiles were identified by lab directors for discussion with the ordering provider. These cases were retrospectively analyzed. Outcome information for maternal and fetal health was collected from ordering providers.

Results: From 2012 to 2019, 108 cases were nonreportable due to globally aberrant or chaotic genome-wide sequencing data in multiple chromosomes. This chaotic pattern of data was detected in ~1:10,000 samples.  Maternal outcome was obtained in 92 cases (85%); all cases reported maternal neoplasia, many of which were malignant (n = 77/92; 84%). Of the maternal malignancies, breast cancer (n=20), lymphoma (n=28), and colorectal cancer (n=5) were most frequently reported. Other neoplasia cases (n=15) were thought to be benign, predominantly uterine fibroids (n = 12/15; 80%), but also included vestibular schwannoma, fibroadenoma, and ovarian teratoma. Of malignant cases, 54 (70%) had no clinical indication of malignancy and were diagnosed after cfDNA screening.

Conclusion: As part of evolving procedures, laboratories may contact the referring physician to discuss concerns and inquire about patient health history based on globally aberrant cfDNA sequencing profiles. As recommended by ACOG/ SMFM, pretest counseling should include the possibility of discovering a maternal incidental finding. Based on this cohort, when globally aberrant cfDNA sequencing data is observed on an MPS assay, the chance of a maternal neoplasia is significant.