Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
L Allach El KhattabiS BrunP GueguenNicolas ChatronE GuichouxS SchutzJ NectouxA SorlinM QuereJ BoudjaraneV TsatsarisL MandelbrotC Schluth-BolardJ M DupontC Roorycknull nullPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2020)
We describe one of the largest studies evaluating Ion Proton-based NIPS and the first clinical study reporting pregnancy outcome in a large series of patients. This platform is highly efficient in detecting the three most common trisomies. Our protocol is robust and can be implemented easily in any medical genetics laboratory. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
Keyphrases
- highly efficient
- end stage renal disease
- newly diagnosed
- high throughput
- ejection fraction
- chronic kidney disease
- healthcare
- pregnant women
- randomized controlled trial
- prognostic factors
- peritoneal dialysis
- preterm birth
- systematic review
- emergency department
- genome wide
- clinical trial
- gene expression
- pregnancy outcomes
- ionic liquid