Page 35 - SOGBA_1_2022
P. 35
Meeting. Eur J Endocrinol. septiem- tes and residual risk for a postnatal
bre de 2017;177(3):G1–70. diagnosis of an atypical chromoso-
10. Malvestiti F, Agrati C, Grimi B, Pom- me aberration following combined
pilii E, Izzi C, Martinoni L, et al. In- first-trimester screening. Prenat
terpreting mosaicism in chorionic Diagn. junio de 2020;40(7):852–9.
villi: results of a monocentric series 16. Ge Y, Li J, Zhuang J, Zhang J, Huang
of 1001 mosaics in chorionic villi Y, Tan M, et al. Expanded noninva-
with follow-up amniocentesis: In- sive prenatal testing for fetal aneu-
terpreting mosaicism in chorionic ploidy and copy number variations
villi. Prenat Diagn. noviembre de and parental willingness for invasi-
2015;35(11):1117–27. ve diagnosis in a cohort of 18,516 ca-
11. Viuff M, Skakkebæk A, Nielsen MM, ses. BMC Med Genomics. diciembre
Chang S, Gravholt CH. Epigenetics de 2021;14(1):106.
and genomics in Turner syndrome. 17. Christiaens L, Chitty LS, Langlois
Am J Med Genet C Semin Med Ge- S. Current controversies in prena-
net. marzo de 2019;181(1):125–32. tal diagnosis: Expanded NIPT that
12. Viuff MH, Stochholm K, Uldbjerg includes conditions otherthan triso-
N, Nielsen BB, the Danish Fetal Me- mies 13, 18, and 21 should be offe-
dicine Study Group, Gravholt CH. red. :22.
Only a minority of sex chromosome 18. Bedei I, Wolter A, Weber A, Signore
abnormalities are detected by a na- F, Axt-Fliedner R. Chances and Cha-
tional prenatal screening program llenges of New Genetic Screening
for Down syndrome. Hum Reprod. Technologies (NIPT) in Prenatal Me-
octubre de 2015;30(10):2419–26. dicine from a Clinical Perspective: A
13. Gadsbøll K, Petersen OB, Gatinois Narrative Review. Genes. 29 de mar-
V, Strange H, Jacobsson B, Wapner zo de 2021;12(4):501.
R, et al. Current use of noninvasive 19. Schmid M, Klaritsch P, Arzt W,
prenatal testing in Europe, Australia Burkhardt T, Duba H, Häusler M,
and the USA: A graphical presenta- et al. Cell-Free DNA Testing for Fe-
tion. Acta Obstet Gynecol Scand. ju- tal Chromosomal Anomalies in clini-
nio de 2020;99(6):722–30. cal practice: Austrian-German-Swiss
14. Gil MM, Accurti V, Santacruz B, Pla- Recommendations for non-invasive
na MN, Nicolaides KH. Analysis of prenatal tests (NIPT). Ultraschall
cell-free DNA in maternal blood in Med - Eur J Ultrasound. 15 de octu-
screening for aneuploidies: upda- bre de 2015;36(05):507–10.
ted meta-analysis: Cell-free DNA in 20. Bianchi DW. Turner syndrome: New
screening for aneuploidies. Ultra- insights from prenatal genomics
sound Obstet Gynecol. septiembre and transcriptomics. Am J Med Ge-
de 2017;50(3):302–14. net C Semin Med Genet. marzo de
15. Iwarsson E, Conner P. Detection ra- 2019;181(1):29–33.
Vol. 53 - Nº 257 / 1 - Año 2022 33
