Chẩn đoán trước sinh của thể khảm tam bội nhiễm sắc thể 8, ban đầu được xác định qua sàng lọc cffDNA

Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet (London, England). 1997;350:485–7. Goldwaser T, Klugman S. Cell-free DNA for the detection of fetal aneuploidy. Fertil Steril. 2018;109:195–200. Carbone L, Cariati F, Sarno L, Conforti A, Bagnulo F, Strina I, et al. Non-invasive prenatal testing: current perspectives and future challenges. Genes. 2020. https://doi.org/10.3390/genes12010015. Benn P. Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y. Clin Genet. 2016;90:477–85. Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med: Off J Am Coll Med Genet. 2016;18:1056–65. Benn P, Malvestiti F, Grimi B, Maggi F, Simoni G, Grati FR. Rare autosomal trisomies: comparison of detection through cell-free DNA analysis and direct chromosome preparation of chorionic villus samples. Ultras Obstet Gynecol: the off J Int Soc Ultras Obstet Gynecol. 2019;54:458–67. Wiśniewska M, Mazurek M. Trisomy 8 mosaicism syndrome. J Appl Genet. 2002;43:115–8. Chen M, Fu XY, Luo YQ, Qian YQ, Pan L, Wang LY, et al. Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis. J Maternal-fetal Neon Med: Off J Eur Associat Perinatal Med, the Federat Asia Ocean Perinat Societ, Int Soci Perinat Obstet. 2019;32:38–45. Chen CP, Su YN, Chern SR, Chen YT, Su JW, Pan CW, et al. Prenatal diagnosis of trisomy 8 mosaicism. Taiwan J Obstet Gynecol. 2012;51:666–8. Schneider M, Klein-Vogler U, Tomiuk J, Schliephacke M, Leipoldt M, Enders H. Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn. 1994;14:651–2. Cassina M, Calò A, Salviati L, Alghisi A, Montaldi A, Clementi M. Prenatal detection of trisomy 8 mosaicism: pregnancy outcome and follow up of a series of 17 consecutive cases. Eur J Obstet Gynecol Reprod Biol. 2018;221:23–7. van Haelst MM, Van Opstal D, Lindhout D, Los FJ. Management of prenatally detected trisomy 8 mosaicism. Prenat Diagn. 2001;21:1075–8. Hulley BJ, Hummel M, Cook LL, Boyd BK, Wenger SL. Trisomy 8 mosaicism: selective growth advantage of normal cells vs growth disadvantage of trisomy 8 cells. Am J Med Genet Part A. 2003;116A(2):144–6. Kurtyka ZE, Krzykwa B, Piatkowska E, Radwan M, Pietrzyk JJ. Trisomy 8 mosaicism syndrome. Two cases demonstrating variability in phenotype. Clin Paediat. 1988;27:557–64. Iwatani S, Takeoka E, Mizobuchi M, Yoshimoto S, Iwaki R, Bitoh Y, et al. Trisomy 8 mosaicism with pyloric atresia and situs ambiguous. Pediat Int :Off J Jap Pediat Soci. 2014;56:938–9. Sanderson B, Leach C, Zein M, Islam O, MacLean G, Strube YNJ, et al. Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: a new finding. Am J Med Genet A. 2021;185:534–8. Sifakis S, Koukou Z, Spandidos DA. Cell-free fetal DNA and pregnancy-related complications (review). Mol Med Rep. 2015;11:2367–72. Liang D, Cram DS, Tan H, Linpeng S, Liu Y, Sun H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med :Off J Am Coll Med Genet. 2019;21:1998–2006. Wan J, Li R, Zhang Y, Jing X, Yu Q, Li F, et al. Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice. Prenat Diagn. 2018;38:849–57. Zhou Q, Pan L, Chen S, Chen F, Hwang R, Yang X, et al. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Prenat Diagn. 2014;34:1061–5. Ge Y, Li J, Zhuang J, Zhang J, Huang Y, Tan M, et al. Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases. BMC Med Genom. 2021;14:106. Pertile MD, Halks-Miller M, Flowers N, Barbacioru C, Kinnings SL, Vavrek D, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Translat Med. 2017. https://doi.org/10.1126/scitranslmed.aan1240. Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A. Rare autosomal trisomies: important and not so rare. Prenat Diagn. 2018;38:765–71. Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R. Chances and challenges of new genetic screening technologies (NIPT) in prenatal medicine from a clinical perspective: a narrative review. Genes. 2021;12(4):501. Zhu X, Lam DYM, Chau MHK, Xue S, Dai P, Zhao G, et al. Clinical significance of non-invasive prenatal screening for trisomy 7: cohort study and literature review. Genes. 2020. https://doi.org/10.3390/genes12010011. Pescia G, Guex N, Iseli C, Brennan L, Osteras M, Xenarios I, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med: Off J Am Coll Med Genet. 2017;19:169–75. Grati FR, Ferreira J, Benn P, Izzi C, Verdi F, Vercellotti E, et al. Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. Genet Med: Off J Am Coll Med Genet. 2020;22:309–16. Chatron N, Till M, Abel C, Bardel C, Ramond F, Sanlaville D, et al. Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management. Ultras Obstetr Gynecol: Off J Int Soci Ultras Obstet Gynecol. 2019;53:129–30.