Clinical experience across the fetal-fraction spectrum of a non-invasive prenatal screening approach with low test-failure rate.

ABSTRACT:

Objective

To describe our clinical experience across the entire range of fetal-fraction (FF) measurements of a non-invasive prenatal screen (NIPS) that uses whole- genome sequencing (WGS).

Methods

We analyzed retrospectively results from 58 105 singleton pregnancies that underwent NIPS on a customized WGS platform during an 8-month period and assessed clinical test performance for trisomy 21, trisomy 18 and trisomy 13. Pregnancy outcomes were sought for all screen-positive patients and for 18% of screen-negative patients. As differences in outcome-collection response rates could artificially impact test-performance calculations, we computed inferred sensitivity, specificity, positive predictive values (PPV) and negative predictive values adjusted for ascertainment bias.

R

SUBMITTER: Hancock S 

PROVIDER: S-EPMC7496885 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature