References
- Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011;342:c7401.
- Ehrich M, Deciu C, Zwiefelhofer T, 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.
- Taylor-Phillips S, Freeman K, Geppert J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6:e010002.
- Chen EZ, Chiu RWK, Sun H, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791.
- Lo YM, Corbetta N, Chamberlain PF, et al., Presence of fetal DNA in maternal plasma and serum. Lancet. 1997. 350(9076): 485–487.
- Chiu RWK, Chan KC, Gao Y, 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(51):20458–20463.
- Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008;105(42):16266–16271.
- Mazloom AR, Dzakula Ž, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013;33(6):591–597.
- Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799–808.
- Leggett V, Jacobs P, Nation K, et al. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol. 2010;52:119–129.
- Bouchlariotou S, Tsikouras P, Dimitraki M, et al. Turner’s syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 2011;24:668–672.
- Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem. 2014;60:251–259.
- ACoOa G. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020;136:e48–e69.
- Grati FR. Implications of fetoplacental mosaicism on cell-free DNA testing: a review of a common biological phenomenon. Ultrasound Obstet Gynecol. 2016;48:415–423.
- Ji X, Chen F, Zhou Y, et al. Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: case reports and a literature review. Taiwan J Obstet Gynecol. 2018;57:871–877.
- Budis J, Gazdarica J, Radvanszky J, et al. Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing. Bioinformatics. 2019;35:1284–1291.
- Tian Y, Zhang L, Tian W, et al. Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform. Mol Cytogenet. 2018;11:49.
- Zhou L, Zhang B, Liu J, et al. The optimal cutoff value of Z-scores enhances the judgment accuracy of noninvasive prenatal screening. Front Genet. 2021;12:690063.
- Junhui W, Ru L, Qiuxia Y, et al. Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center. Prenat Diagn. 2021;41:690–696.
- Norton ME, Wapner RJ. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;373:2582.
- Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med. 2009;360:2556–2562. • Summary of prenatal screening strategies and evidences.
- Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American college of medical genetics and genomics. Genet Med. 2016;18:1056–1065.
- Xu L, Huang H, Lin N, et al. Non-invasive cell-free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China. Ultrasound Obstet Gynecol. 2020;55:242–247.
- Zhao G, Dai P, Wang C, et al. Clinical application of noninvasive prenatal testing for sex chromosome aneuploidies in central China. Front Med (Lausanne). 2021;8:672211.
- Deng C, Zhu Q, Liu S, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital. Sci Rep. 2019;9:7767.
- Tian C, Deng T, Zhu X, et al. Evidence of compliance with and effectiveness of guidelines for noninvasive prenatal testing in China: a retrospective study of 189,809 cases. Sci China Life Sci. 2020;63:319–328.
- Xu Y, Chen L, Liu Y, et al. Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy. Expert Rev Mol Diagn. 2019;19:537–542.
- Nicolaides KH, Musci TJ, Struble CA, et al. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther. 2014;35:1–6.
- Wang L, Meng Q, Tang X, et al. Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Taiwan J Obstet Gynecol. 2015;54:527–531.
- Neofytou M. Predicting fetoplacental mosaicism during cfDNA-based NIPT. Curr Opin Obstet Gynecol. 2020;32:152–158.
- Flori E, Doray B, Gautier E, et al. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report. Hum Reprod. 2004; 19: 723–724.
- Bianchi DW, Parsa S, Bhatt S, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015;125:375–382.
- Zhou Q, Zhu ZP, Zhang B, et al. Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results. Ann Transl Med. 2019;7:317.
- So PL, Cheng KYY, Cheuk KY, et al. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong. J Obstet Gynaecol Res. 2017;43:1821–1829.
- Xu J, Xue Y, Wang J, et al. The necessity of prenatal diagnosis by CMA for the women with NIPS-Positive Results. International Journal of Genomics. 2020;2020:2145701.
- Dobson LJ, Reiff ES, Little SE, et al. Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA). Prenat Diagn. 2016;36(5):456–462.
- Cherry AM, Akkari YM, Barr KM, et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American college of medical genetics and genomics (ACMG). Genet Med. 2017;19(8):845–850.