Referenser

  1. McCullough et al. Non-Invasive Prenatal Chromosomal Aneuploidy Testing – Clinical Experience: 100,000 Clinical Samples. (2014) PLoS ONE 9 (10): e109173.

  2. Gregg et al. Non-invasive prenatal screening for fetal aneuploidy: 2016 update.Genet Med. (2016) doi:10.1038/gim.2016.9

  3. Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–237

  4. Vanadis kit insert, version N°2 (se länk https://rh.perkinelmer.com/wp-content/uploads/2021/06/3222-001B_V003_en.pdf )

  5. Dahl F. et al, Imaging single DNA molecules for high precision NIPT, Sci. Rep. 2018 Mar;8:4549. doi:10.1038/s41598-018-22606-0

  6. 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

  7. 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

  8. Cuckle, H., Benn, P. & Pergament, E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem 48, 932–941 (2015).

  9. 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).

  10. McCullough, R. M. et al. Non-invasive prenatal chromosomal aneuploidy testing–clinical experience: 100,000 clinical samples. PLoS One 9, e109173 (2014).

  11. 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).

  12. 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).

  13. Lo, Y. M. et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci USA 104, 13116–13121 (2007).

  14. Xu, C. et al. Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing. Clin Chem 63, 861–869 (2017).

  15. 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).

  16. Wright et al. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015; 45: 48–54.

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