cfDNA test
- Noninvasive prenatal screening for 22q11. 2 deletion syndrome
- Prenatal cfDNA testing for aneuploidies: clinical outcome, based on a one-brand cfDNA test
- Cell free DNA test-Importance of risk a priori
- Biomimetic reference materials for NIPT assays
- First clinical application of paired-end MPSS for cfDNA screening of aneuploidies
- One year of Public Health Care reimbursed cfDNA aneuploidy screening program
- Consecutive series of 10'000 cases screened for aneuploidies with genome-wide cfDNA test
- Can NIPS increase the detection rate of Down syndrome in the Czech population without a downside?
- Non-Invasive Prenatal Tests: Impact in a group of Portuguese pregnant population
- Invasive procedures after the introduction of non-invasive prenatal test
- Fetal fraction reference material generation for NIPT using Ashkenazim mother and son cell lines
- Major structural defects and cfDNA testing in high-risk pregnancies after first trimester screening
- Noninvasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies in a single fetal medicine unit
- Screening performance of a SNP-based NIPT for five clinically significant microdeletions in a large cohort
- Targeted enrichment method for the detection of microdeletion and microduplication syndromes
- A novel NIPT approach based on the methylation differences between maternal and fetal DNA
- Leveraging fragment size information from targeted analysis of cfDNA for aneuploidies
- Development of a novel targeted assay for NIPT of fetal trisomies exhibits near-diagnostic accuracy
- The IONA test - update on dynamic fetal fraction
- Expanding non-invasive prenatal testing (NIPT) beyond chromosomes 21, 18, 13, X and Y
- Clinical validation of genome wide cell free DNA testing
- Patient satisfaction with NIPT for chromosomal abnormalities
- Clinical outcome assessment of common aneuploidies detected by noninvasive prenatal testing
- Targeted sequencing of maternal plasma for NIPT of spinal muscular atrophy