Fig. 1 | Genetics in Medicine

Fig. 1

From: Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

Fig. 1

Enrollment of participants, clinical follow-up, identification of maternal malignancy cases, classification of multiple chromosomal aneuploidies results, and development of the CDP model. A total of 639 participants with multiple chromosomal aneuploidies on initial NIPS test from over 1.93 million pregnant women who underwent NIPS tests were enrolled. Analyses of plasma DNA profiles were retrospectively performed using CDP in 639 participants, among whom 466 interviewed participants underwent plasma tumor marker tests. A total of 41 cancer cases, 4 leiomyomas, and 1 case of chocolate cyst of ovary were confirmed. The CDP model was developed with 41 cancer and 501 noncancer participants. CDP cancer detection pipeline built with the software HMMcopy to detect maternal malignancies using NIPS test sequencing data, NIPS noninvasive prenatal screening, PTMs plasma tumor markers.

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