The Impact of No-Call Rate in NIPT
An infographic that highlights the clinical importance of no-call rate in NIPT (non-invasive prenatal testing).
Articles and resources
Addressing evolving laboratory needs through innovative workflows
Revvity's Symposium presentation from ESHG 2023 (European Society of Human Genetics). A compilation of talks from forward-thinking laboratory leaders, highlighting their innovative methods and services.
Designing a quantitative PCR assay for fetal RhD genotyping from maternal plasma derived cell free fetal DNA (cffDNA)
M.Sc. Suvi Parviainen and Ph.D. Ville Veikkolainen. Poster presented at the ESHG conference 2022.
Consequences of imprecision in fetal fraction estimation on performance of cell-free DNA screening for Down syndrome
Persson F. and Cuckle H.S., Prenat Diagn. 2022
Examination of False Positives in Fetal cfDNA Analysis
The lecture entitled “Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study) ” was presented by Dr Ritsuko Pooh at the 8th World Congress on Controversies in Preconception, Preimplantation and Prenatal Genetic Diagnosis (CoGEN) in 2021.
Implications of Fetal Fraction measurement variability in NIPS – Webinar & Transcript
The lecture entitled “Implications of fetal fraction measurement variability in NIPS” was presented by Dr Fredrik Persson at the 2021 International Society for Prenatal Diagnosis (ISPD) conference.
Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)
Pooh, R.K.; Masuda, C.; Matsushika, R.; Machida, M.; Nakamura, T.; Takeda, M.; Ohashi, H.; Kumagai, M.; Uenishi, K.; Roos, F.; Persson, F.; Shimokawa, O. Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study). Diagnostics 2021, 11, 1837. https://doi.org/10.3390/diagnostics11101837
Understanding Fetal Fraction in cfDNA screening
Fetal fraction has been used by some laboratories to determine if they can have confidence in their results. However, there are significant factors to consider when determining its merit, including assay precision, the accuracy of a reported fetal fraction metric and the implications of using a fetal fraction cutoff. In the enclosed publication, we present the science, the data and the impact of using the fetal fraction metric within a clinical context.
Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population
Karlsson F, Ahola T, Dahlberg J, Prensky L, Moilanen H, Spalding H. Evaluation of repeat testing of a non- sequencing based NIPT test on a Finnish general- risk population. Acta Obstet Gynecol Scand. 2021;100:1497–1500. https://doi.org/10.1111/aogs.14125
Evaluation of Vanadis system as an alternative method for cell-free fetal DNA assay in maternal plasma
Imma Mercadé, Robin Wijngaard, Javier Laguna, Maria Rodriguez, Elena Casals. Servicio de Bioquímica y Genética Molecular, CDB, Hospital Clínic de Barcelona.
Poster presented at the ECPM conference 2021.
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