Importance: Understanding the relationship between aneuploidy detection on @entity1062 ( @entity1062 ) and occult maternal @entity5 may explain results that are discordant with the fetal karyotype and improve maternal clinical care. Objective: To evaluate massively parallel sequencing data for patterns of copy-number variations that might prospectively identify occult maternal @entity5 . Design, Setting, and @entity1 : Case series identified from 125   426 samples submitted between February 15, 2012, and September 30, 2014, from asymptomatic pregnant @entity1 who underwent plasma cell-free DNA sequencing for clinical prenatal aneuploidy screening. Analyses were conducted in a clinical laboratory that performs DNA sequencing. Among the clinical samples, abnormal results were detected in 3757 (3%); these were reported to the ordering physician with recommendations for further evaluation. Exposures: @entity1062 for fetal aneuploidy screening (chromosomes 13, 18, 21, X, and Y). Main Outcomes and Measures: Detailed genome-wide bioinformatics analysis was performed on available sequencing data from 8 of 10 @entity1 with known @entity5 . Genome-wide copy-number changes in the original @entity1062 samples and in subsequent serial samples from individual @entity1 when available are reported. Copy-number changes detected in @entity1062 sequencing data in the known @entity5 cases were compared with the types of @entity2007 detected in the overall cohort. Results: From a cohort of 125   426 @entity1062 results, 3757 (3%) were positive for 1 or more @entity2007 involving chromosomes 13, 18, 21, X, or Y. From this set of 3757 samples, 10 cases of maternal @entity5 were identified. Detailed clinical and sequencing data were obtained in 8. @entity5 most frequently occurred with the rare @entity1062 finding of more than 1 aneuploidy detected (7 known @entity5 among 39 cases of multiple @entity2007 by @entity1062 , 18% [95% CI, 7.5%-33.5%]). All 8 cases that underwent further bioinformatics analysis showed unique patterns of nonspecific @entity1017 and losses across multiple chromosomes. In 1 case, blood was sampled after completion of treatment for @entity14 and the abnormal pattern was no longer evident. Conclusions and Relevance: In this preliminary study, a small number of cases of @entity5 were subsequently diagnosed among pregnant @entity1 whose @entity1062 results showed discordance with the fetal karyotype. The clinical importance of these findings will require further research.

Noninvasive Prenatal Testing and Incidental Detection of Occult XXXX .

@entity1 :: ('9606', 'Species') :: ['women', 'patients', 'Participants'] @entity2007 :: ('MESH:D000782', 'Disease') :: ['aneuploidies'] @entity5 :: ('MESH:D009369', 'Disease') :: ['Maternal cancers', 'cancers', 'cancer', 'malignancies', 'occult malignancy'] @entity1017 :: ('MESH:D015430', 'Disease') :: ['copy-number gains'] @entity1062 :: ('MESH:D013736', 'Disease') :: ['noninvasive prenatal testing', 'NIPT'] @entity14 :: ('MESH:D015179', 'Disease') :: ['colorectal cancer']
@entity5 :: (MESH:D009369,Disease) :: ['Maternal Malignancies']
