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Original Articles

Evaluation of the practical applications of fluorescence in situ hybridization in the prenatal diagnosis of positive noninvasive prenatal screenings

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Pages 7422-7429 | Received 15 Jan 2021, Accepted 25 Jun 2021, Published online: 21 Jul 2021

References

  • 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(10):1056–1065.
  • Norwitz ER, Levy B. Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol. 2013;6(2):48–62.
  • Caine A, Maltby AE, Parkin CA, UK Association of Clinical Cytogeneticists (ACC), et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet. 2005;366(9480):123–128.
  • Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization. Am J Hum Genet. 1992;51(1):55–65.
  • Homer J, Bhatt S, Huang B, et al. Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH)). Prenat Diagn. 2003;23(7):566–571.
  • Leclercq S, Lebbar A, Grange G, et al. Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies. Prenat Diagn. 2008;28(4):313–318.
  • Lim AS, Lim TH, Lim TH, et al. Rapid aneuploidy screening with fluorescence in-situ hybridization: is it a sufficiently robust stand-alone test for prenatal diagnosis? Hong Kong Med J. 2010;16(6):427–433.
  • Hongge L, Zhou Q, Chen S, et al. Evaluation of the accuracy of FISH plus conventional fetal karyotyping in a University Hospital in China. International Journal of Gynecology and Obstetrics Research. 2015;2(2):012–017.
  • Liang D, Cram DS, Tan H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med. 2019;21(9):1998–2006.
  • Shaffer LG, Slovak ML, Campbell LJ. 2009. Recommendations of the International Standing Committee on human cytogenetic nomenclature (ISCN 2009). An international system for human cytogenetic nomenclature. Basel, Switzerland: Karger.
  • Committee Opinion No. 640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31–7.
  • Benn P, Borrell A, Chiu RW, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725–734.
  • 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.
  • Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45(5):530–538.
  • 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(1):e010002.
  • 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(2):242–247.
  • Liang D, Lin Y, Qiao F, et al. Perinatal outcomes following cell-free DNA screening in >32,000 women: clinical follow-up data from a single tertiary center. Prenat Diagn. 2018;38(10):755–764.
  • Hsu LY, Benn PA. Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenat Diagn. 1999;19(11):1081–1082.
  • Tepperberg J, Pettenati MJ, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn. 2001;21(4):293–301.
  • Screening for fetal chromosomal abnormalities: ACOG practice bulletin summary, number 226. Obstet Gynecol. 2020;136(4):859–867.
  • Su SY, Chueh HY, Li CP, et al. Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism. Taiwan J Obstet Gynecol. 2015;54(5):588–591.
  • Schwartz S, Leana-Cox J. Fluorescent in situ hybridization (FISH): a new application in the delineation of true vs. pseudomosaicism in prenatal diagnosis. Prenat Diagn. 1993;13(8):661–670.

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