892: Confirmed maternal neoplasms detected via informaSeq non-invasive prenatal screening

Abstract

To discuss the findings of Integrated Genetics’ informaSeq NIPS results with regard to confirmed maternal malignancies and benign tumors. Samples were received for NIPS and analyzed by means of massively parallel sequencing. Abnormal results were recorded in a database maintained by the genetic counselors, and follow-up information was collected 6 weeks post-results and post-delivery if needed. Since its launch in August 2014, 401,900 samples have been received for informaSeq NIPS. Of all of these samples, 11 cases had a confirmed maternal malignancy or benign tumor: four related to lymphoma, two breast cancer, one a thyroid mass, one maternal fibroids, one stage 4 tracheal carcinoma, one pituitary macroadenoma, and one a confirmed unspecified maternal cancer. Six of the cases resulted as multiple aneuploidies being detected, five of which also discussed an atypical pattern (special wording), four additional cases reported as a single aneuploidy but with an atypical pattern, and one case was reported as simply a single aneuploidy. Of note, trisomy 13 was indicated in 7/11 (63.6%) of the cases. This research adds to the evidence that maternal neoplasms can affect the results of non-invasive prenatal screening. These examples also show the variety of NIPS results that have been reported for patients experiencing maternal malignancy. Patients should be counseled appropriately that such results are possible. Future research may aim to develop guidelines for providers on how to follow-up when such results are received.