OBJECTIVES: Clinical performance of a low coverage, low cost, massively parallel sequencing (MPS)-based assay to stratify risk of trisomy 21, 18, and 13pregnancies was determined. METHODS: The study included 1100 samples with birth outcome or karyotype results, comprising low-risk @entity1 (84.2%) negative for risk indications from maternal age, serum screening, ultrasound, or family history, and high-risk @entity1 (15.8%) with at least one of the aforementioned indications. Cell free DNA (cfDNA) was extracted from maternal plasma. Library preparation incorporated 96 index barcodes to enable sequencing on a HiSeq 2000 or 2500. Risk scores were calculated using chromosomal representation, fetal fraction and maternal age at the estimated date of delivery. A risk score greater than or equal to 1 in 100 was used to stratify samples as high risk for @entity1467 , or trisomy 13. RESULTS: Sensitivity and specificity were calculated based on risk group stratification. Trisomy 21, @entity7440 were detected with greater than 99% sensitivity and 99.9% specificity. Fetal sex classification accuracy was 99.3%. CONCLUSIONS: We conclude that simplified MPS can be used to stratify the risk of pregnancies for trisomy 21, @entity7440 and accurately determine fetal sex.

Application of risk score analysis to low-coverage whole genome sequencing data for the noninvasive detection of trisomy 21, XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity1467 :: ('MESH:D004314', 'Disease') :: ['trisomy 21, trisomy 18'] @entity7440 :: ('MESH:C580500', 'Disease') :: ['trisomy 18, and trisomy 13']
@entity7440 :: (MESH:C580500,Disease) :: ['trisomy 18, and trisomy 13']
