327
Views
0
CrossRef citations to date
0
Altmetric
Original Articles

The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012–2016

ORCID Icon, , , , &
Pages 4326-4331 | Received 06 Aug 2020, Accepted 04 Nov 2020, Published online: 24 Nov 2020

References

  • Hook EB. Contribution of chromosome abnormalities to human morbidity and mortality. Cytogenet Cell Genet. 1982;33(1-2):101–106.
  • Davis C, Cuckle H, Yaron Y. Screening for Down syndrome-incidental diagnosis of other aneuploidies. Prenat Diagn. 2014;34(11):1044–1048.
  • Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther. 2011;29(3):183–196.
  • Calda P. Ultrasonographic and biochemical markers in prenatal detection of Down's syndrome and neural tube defects. Funct Dev Morphol. 1992;2(2):135–137.
  • Stejskal D. Screening for Down's syndrome in the 2d trimester of pregnancy: initial results. Cesk Gynekol. 1993;58(1):5–10.
  • Calda P, Šípek A, Gregor V. Gradual implementation of first trimester screening in a population with a prior screening strategy: population based cohort study. Acta Obstet Gynecol Scand. 2010;89(8):1029–1033.
  • Šípek A, Gregor V, Horáček J, et al. National Registry of Congenital Anomalies of the Czech Republic: commemorating 50 years of the official registration. Cent Eur J Public Health. 2014;22(4):287–288.
  • R Core Team. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2014. Available from: http://www.R-project.org/
  • Baer RJ, Flessel MC, Jelliffe-Pawlowski LL, et al. Detection rates for aneuploidy by first-trimester and sequential screening. Obstet Gynecol. 2015;126(4):753–759.
  • Šípek A, Gregor V, Horáček J, et al. Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations. Epidemiol Mikrobiol Imunol. 2013;62(3):112–128.
  • Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol. 1981;58(3):282–285.
  • Cocchi G, Gualdi S, Bower C, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010;88(6):474–479.
  • Leoncini E, Botto LD, Cocchi G, et al. How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Med Genet. 2010;152A(7):1670–1680.
  • Akolekar R, Beta J, Picciarelli G, et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16–26.
  • Alamillo CM, Krantz D, Evans M, et al. Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center. Prenat Diagn. 2013;33(3):251–256.
  • Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302–314.
  • Iwarsson E, Jacobsson B, Dagerhamn J, et al. Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2017;96(1):7–18.
  • Srebniak MI, de Wit MC, Diderich KE, et al. Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT. Mol Cytogenet. 2016;9(1):69.
  • Malan V, Bussières L, Winer N, et al. Effect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high risk of trisomy 21: a randomized clinical trial. JAMA. 2018;320(6):557–565.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.