参考文献:1.Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008;105:20458–63.PubMed PubMedCentral CrossRef 2.Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204:205 e1-11. 3.Jensen TJ, Zwiefelhofer T, Tim RC, Džakula Ž, Kim SK, Mazloom AR, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One. 2013;8:e57381.PubMed PubMedCentral CrossRef 4.Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem. 2015;61:608–16.PubMed CrossRef 5.Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet. 2015;23:1286–93.PubMed CrossRef 6.Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med. 2015;372:1639–45.PubMed PubMedCentral CrossRef 7.Chen S, Lau TK, Zhang C, Xu C, Xu Z, Hu P et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013;33:584–90.PubMed CrossRef 8.Lo YM, Corbetta N, Chamberlain PF, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.PubMed CrossRef 9.Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat Diagn. 2013;33:511–3.PubMed CrossRef 10.Jensen TJ, Dzakula Z, Deciu C, van den Boom D, Ehrich M. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem. 2012;58:1148–51.PubMed CrossRef 11.Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013;8:e60968.PubMed PubMedCentral CrossRef 12.Straver R, Sistermans EA, Holstege H, Visser A, Oudejans CB, Reinders MJ. WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Res. 2014;42:e31.PubMed PubMedCentral CrossRef 13.Rampasek L, Arbabi A, Brudno M. Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics. 2014;30:i212–8.PubMed PubMedCentral CrossRef 14.Li R, Wan J, Zhang Y, Fu F, Ou Y, Jing X, et al. Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies. Ultrasound Obstet Gynecol 2016;47:53–7.PubMed CrossRef
作者单位:Ting Wang (1) Chengying Duan (1) Cong Shen (1) Jingjing Xiang (1) Quanze He (1) Jie Ding (1) Ping Wen (1) Qin Zhang (1) Wei Wang (1) Minjuan Liu (1) Hong Li (1) Haibo Li (1) Lili Zhang (2)
1. Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu, 215002, China 2. Center for Medical Ultrasound, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu, China
刊物主题:Cytogenetics; Molecular Medicine;
出版者:BioMed Central
ISSN:1755-8166
文摘
Background To detect complex fetal subchromosomal abnormalities by noninvasive prenatal testing (NIPT).