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ORIGINAL RESEARCH

Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China

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Pages 563-573 | Received 19 Dec 2023, Accepted 20 Mar 2024, Published online: 29 Mar 2024

References

  • Shorey S, Lalor J, Pereira TL, Jarašiūnaitė-Fedosejeva G, Downe S. Decision-making and future pregnancies after a positive fetal anomaly screen: a scoping review. J Clin Nurs. 2023;32(17–18):5534–5549.
  • Bianchi DW, Oepkes D, Ghidini A. Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for down syndrome in all pregnant women? Prenat Diagn. 2014;34(1):6–11. doi:10.1002/pd.4229
  • Xiang P, Liu L, Hu X, Zhou Y. CNV-seq 在高危孕妇产前诊断中的应用价值 [Application value of CNV-seq for the prenatal diagnosis of women with high-risk pregnancies]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023;40(1):17–20. Chinese. doi:10.3760/cma.j.cn511374-20211209-00976
  • Dan S, Wang W, Ren J, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn. 2012;32(13):1225–1232. doi:10.1002/pd.4002
  • Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M. Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences. BMC Pregnancy Childbirth. 2019;19(1):27. doi:10.1186/s12884-018-2168-4
  • Zhang Y, Xu H, Zhang W, Liu K. Non-invasive prenatal testing for the detection of trisomy 13, 18, and 21 and sex chromosome aneuploidies in 68,763 cases. Front Genetics. 2022;13:864076. doi:10.3389/fgene.2022.864076
  • Saidel ML, Ananth U, Rose D, Farrell C. Non-invasive prenatal testing with rolling circle amplification: real-world clinical experience in a non-molecular laboratory. J Clin Lab Analysis. 2023;37(6):e24870. doi:10.1002/jcla.24870
  • Garshasbi M, Wang Y, Hantoosh Zadeh S, Giti S, Piri S, Reza Hekmat M. Clinical application of cell-free DNA sequencing-based noninvasive prenatal testing for trisomies 21, 18, 13 and sex chromosome aneuploidy in a mixed-risk population in Iran. Fetal Diagn Ther. 2020;47(3):220–227. doi:10.1159/000501014
  • La Verde M, De Falco L, Torella A. Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies. BMC Med Genomics. 2021;14(1):93. doi:10.1186/s12920-021-00941-y
  • Borth H, Teubert A, Glaubitz R, et al. Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany. Arch Gynecol Obstetrics. 2021;303(6):1407–1414. doi:10.1007/s00404-020-05856-0
  • Christiaens L, Chitty LS, Langlois S. Current controversies in prenatal diagnosis: expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered. Prenat Diagn. 2021;41(10):1316–1323. doi:10.1002/pd.5943
  • Jani JC, Gil MM, Benachi A. Genome-wide cfDNA testing of maternal blood. Ultrasound Obstet Gynecol. 2020;55(1):13–14. doi:10.1002/uog.21945
  • 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. doi:10.1038/gim.2016.97
  • Gu Z, Du M, Xu T, Jin C, Tang M. Study on the clinical value of noninvasive prenatal testing in screening the chromosomal abnormalities of the fetus in the elderly pregnant women. Comput Math Methods Med. 2022;2022:2977128. doi:10.1155/2022/2977128
  • Xiang L, Zhu J, Deng K. Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: a multicenter observational study of 1,854,148 women in China. Prenat Diagn. 2023;43(8):1036–1043. doi:10.1002/pd.6312
  • Mennuti MT, Chandrasekaran S, Khalek N, Dugoff L. Cell-free DNA screening and sex chromosome aneuploidies. Prenat Diagn. 2015;35(10):980–985. doi:10.1002/pd.4639
  • Fiorentino F, Bono S, Pizzuti F, et al. The clinical utility of genome-wide non invasive prenatal screening. Prenat Diagn. 2017;37(6):593–601. doi:10.1002/pd.5053
  • Miao Z-Y, Liu X, Shi T-K, Ge J-M, Xu Y. 早、中孕期整合筛查唐氏综合征 [First trimester and second-trimester integrated screening for Down’s syndrome]. Zhonghua Yi Xue Za Zhi. 2011;91(3):185–188. Chinese.
  • Liu S, Chang Q, Yang F, et al. Non-invasive prenatal test findings in 41,819 pregnant women: results from a clinical laboratory in southern China. Arch Gynecol Obstetrics. 2023;308(3):787–795. doi:10.1007/s00404-022-06908-3
  • Konishi A, Samura O, Muromoto J. Prevalence of common aneuploidy in twin pregnancies. J Hum Genet. 2022;67(5):261–265. doi:10.1038/s10038-021-01001-0
  • Yang L, Tan WC. Prenatal screening in the era of non-invasive prenatal testing: a nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice. BMC Pregnancy Childbirth. 2020;20(1):579. doi:10.1186/s12884-020-03279-y
  • Montgomery S, Thayer ZM. The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT). BMC Pregnancy Childbirth. 2020;20(1):630. doi:10.1186/s12884-020-03203-4
  • Robinson WP, Peñaherrera MS, Jiang R, et al. Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction. Prenat Diagn. 2010;30(1):1–8. doi:10.1002/pd.2409
  • Wilkins-Haug L, Quade B, Morton CC. Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat Diagn. 2006;26(5):428–432. doi:10.1002/pd.1430
  • Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014;43(3):254–264. doi:10.1002/uog.13277