Referenser
För mer information, klicka på respektive referens
- 1. Gregg et al. Non-invasive prenatal screening for fetal aneuploidy: 2016 update. Genet Med. (2016) doi:10.1038/gim.2016.9
- 2. Pavanello et al. Cell-free DNA screening for fetal aneuploidy using the rolling circle method: A step towards non invasive prenatal testing simplification
- 3. Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of Cell-Free DNA in Maternal Blood in Screening For Aneuploidies: Updated Meta-Analysis. Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. DOI: 10.1002/uog.17484
- 4. Dahl, F., et al. (2018): Imaging single DNA molecules for high precision NIPT. Scientific Reports 8: 4549. https://www.nature.com/articles/s41598-018-22606-0
- 5. Cuckle, H., Benn, P. & Pergament, E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem 48, 932–941 (2015).
- 6. Dar, P. et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 211, 527 e521–527 e517 (2014).
- 7. McCullough, R. M. et al. Non-invasive prenatal chromosomal aneuploidy testing–clinical experience: 100,000 clinical samples. PLoS One 9, e109173 (2014).
- 8. Revello, R., Sarno, L., Ispas, A., Akolekar, R. & Nicolaides, K. H. Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result. Ultrasound Obstet Gynecol 47, 698–704 (2016).
- 9. Taneja, P. A. et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases. Prenat Diagn 36, 237–243 (2016).
- 10. Lo, Y. M. et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 104, 13116–13121 (2007).
- 11. Xu, C. et al. Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing. Clin Chem 63, 861–869 (2017).
- 12. Tong, Y. K. et al. Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker. PLoS One 5, e15244 (2010).
- 13. Wright et al. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015; 45: 48–54.
- 16. Padula et al. Retrospective study evaluating the performance of a first-trimester combined screening for trisomy 21 in an Italian unselected population
- 17. Gormus et al. Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology
- 18. Pooh et al. Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study)
- 19. ACOG NIPT-Guidelines. American College of Obstetricians and Gynaecologists
- 20. Benn, P. Cuckle, H. & Pergament, E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 42, 15-33 (2013).
- 21. Huang et al. Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies. BMC Pregnancy and Childbirth volume 20, Article number: 713 (2020)
Vanadis NIPT – tillverkarens information – Läs mer här
Referenser fetal fraktion
- 13. Wright et al. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015; 45: 48–54.
- 14. Persson et al. Variability of “Reported Fetal Fraction ” in Noninvasive Prenatal Screening (NIPS), Clinical Chemistry, 2021; hvab014,
- 15. Hancock et al. Clinical Experience Across the Fetal-fraction Spectrum for a Non-invasive Prenatal Screen with Low Test-failure Rate. Ultrasound Obstet Gynecol 2020; 56:422-430
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