1. Akolekar, R., Beta, J., Picciarelli, G., Ogilvie, C. and D'Antonio, F. (2015), Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol, 45: 16-26. zdroj
2. Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2017 Sep 4;9(9):CD003252. PubMed
3. Bardi F, Bosschieter P, Verheij J, Go A, Haak M, Bekker M, Sikkel E, Coumans A, Pajkrt E, Bilardo C. Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? Prenat Diagn. 2020 Jan;40(2):197-205. doi: 10.1002/pd.5590. Epub 2019 Nov 27. PMID: 31697852; PMCID: PMC7027496. PubMed
4. Baschat, A.A. (2015), First-trimester screening for pre-eclampsia: moving from personalized risk prediction to prevention. Ultrasound Obstet Gynecol, 45: 119-129. zdroj
5. Cordocentesis and fetal transfusion. Too G, Berkowitz RL. Obstetric Imaging: Fetal Diagnosis Care. 2018:475–478. Google Scholar
6. Cuckle HS, Wald NJ, Lindenbaum RH. Maternal serum alpha–fetoprotein measurement: a screening test for Down syndrome. Lancet1984;323:926–9. PubMed
7. Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M. Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Am J Med Genet A. 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. PMID: 31566869; PMCID: PMC6848757. PubMed
8. Macri JN, Kasturi RV, Krantz DA, Cook EJ, Moore ND, Young JA, et al. Maternal serum Down syndrome screening: free beta–protein is a more effective marker than human chorionic gonadotropin. Am J Obstet Gynecol 1990;163(4 Pt 1):1248–53. PubMed
9. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, Dukes K, Bianchi DW, Rudnicka AR, Hackshaw AK, Lambert-Messerlian G, Wald NJ, D'Alton ME; First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11. PubMedzdroj
10. Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum alpha–fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol1984;148:886–94. PubMed
11. Muller F, Cuckle H, Teisner B, Grudzinskas JG. Serum PAPP–A levels are depressed in women with fetal Down syndrome in early pregnancy. Prenat Diagn 1993;13:633–6. PubMed
12. Niels Tørring (2016) First trimester combined screening – focus on early biochemistry, Scandinavian Journal of Clinical and Laboratory Investigation, 76:6, 435-447, PubMed
13. Noble PL, Abraha HD, Snijders RJ, Sherwood R, Nicolaides KH. Screening for fetal trisomy 21 in the first trimester of pregnancy: maternal serum free beta–hCG and fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 1995;6:390–5. PubMed
14. Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol1995;5:15–9. PubMed
15. Peddi NC, Avanthika C, Vuppalapati S, Balasubramanian R, Kaur J, N CD. A Review of Cordocentesis: Percutaneous Umbilical Cord Blood Sampling. Cureus. 2021 Jul 16;13(7):e16423. doi: 10.7759/cureus.16423. PubMed
16. Penrose LS. The Colchester Survey: a clinical and genetic study of 1280 cases of mental defect London: HMSO/Privy Council of Medical Research Council; 1938. Google Scholar
17. Percutaneous umbilical blood sampling. Sacher RA, Falchuk SC. Crit Rev Clin Lab Sci. 1990;28:19–35. PubMed
18. Salomon LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol. 2019 Oct;54(4):442-451. doi: 10.1002/uog.20353. PubMed
19. Scarff KL, Flowers N, Love CJ, et al. Performance of a cell-free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low-risk cell-free DNA screening. Prenat Diagn. 2023; 43(2): 213-225 zdroj
20. Tan TY. Combined first trimester screen or noninvasive prenatal testing or both. Singapore Med J. 2015 Jan;56(1):1-3. doi: 10.11622/smedj.2015001. PMID: 25640091; PMCID: PMC4325569. PubMed