NIPT and First Trimester Ultrasound [PDF]
Ultrasound in Medicine & Biology, 2017 openaire +1 more source
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study. [PDF]
J Hum GenetUchida S +4 more
europepmc +1 more source
Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study. [PDF]
Front Endocrinol (Lausanne)Fu D, Wu Q, Ju Y, Jiang M, Zhang S.
europepmc +1 more source
Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration. [PDF]
Diagnostics (Basel)Savarese P +10 more
europepmc +1 more source
Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference. [PDF]
Genes (Basel)Merhala D, Veszprémi B, Vass RA.
europepmc +1 more source
Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings. [PDF]
Curr Issues Mol BiolKong D +5 more
europepmc +1 more source
Clinical use of NIPT technology
Deliverable generated as a result of Tasks 3.1 - 3.3.
openaire +1 more source
Utility of First-Trimester Combined Screening Markers for Identifying Pregnancy at Increased Risk of Fetal Chromosomal Abnormalities. [PDF]
CureusKumawat R +7 more
europepmc +1 more source
A Fetal Fraction Optimized 106-Plex Digital PCR Assay for Non-Invasive Prenatal Testing of Fetal Trisomy. [PDF]
Diagnostics (Basel)Chen S +8 more
europepmc +1 more source
Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review. [PDF]
Int J Womens HealthMu Y +9 more
europepmc +1 more source