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Clinical performance of a low coverage, low cost, massively parallel sequencing (MPS)‐based assay to stratify risk of trisomy 21, 18, and 13 pregnancies was determined.

The study included 1100 samples with birth outcome or karyotype results, comprising low‐risk patients (84.2%) negative for risk indications from maternal age, serum screening, ultrasound, or family history, and high‐risk patients (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 trisomy 21, trisomy 18, or trisomy 13.

Sensitivity and …