References
- Vong JSL, Jiang P, Cheng SH, et al. Enrichment of fetal and maternal long cell-free DNA fragments from maternal plasma following DNA repair. Prenat Diagn. 2019;39(2):88–99. doi:10.1002/pd.5406
- Zhu L, Cheng J, Zhou B, et al. Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT). Mol Med Rep. 2017;15(3):1157–1164. doi:10.3892/mmr.2017.6119
- Keravnou A, Ioannides M, Loizides C, et al. MeDIP combined with in-solution targeted enrichment followed by NGS: inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT. PLoS One. 2018;13(6):1–13. doi:10.1371/journal.pone.0199010
- Koumbaris G, Achilleos A, Nicolaou M, et al. Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases(Article). Mol Cytogenet. 2019;12(1). doi:10.1186/s13039-019-0459-8
- Feng X, Shen H, Ge Y, et al. Prenatal screening and prenatal diagnosis of down syndrome and laboratory quality control. Chin J Eugen Genet. 2019;27(08):944–945.
- Lin YY, Xu WF, Liu YH, et al. Application of noninvasive prenatal testing based on massively parallel sequencing for the detection of chromosomal abnormality. Chin J Birth Health Heredity. 2016;24(01):52–54.
- Yang XK, Guo XL, Zhong J, et al. Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening. J South Med Univ. 2019;39(11):1350–1356. doi:10.12122/j.issn.1673-4254.2019.11.13
- Canick JA, Lambert M, Lian GM, et al. Advances in ultrasound combined with noninvasive prenatal DNA testing in the screening of fetal chromosomal abnormalities in early pregnancy. Mol Cytogenet. 2018;31(12):1814–1815.
- Yannis D, Claire B, Valérie M. Quality control of prenatal screening and diagnosis for cytogenetic testing. Mol Genet Genom Med. 2020;8(3):251–256.
- Greene MF, Phimistereg E. Screening for trisomies in cir-culating DNA. N Engl Med. 2014;370(9):874–875. doi:10.1056/NEJMe1401129
- Vora NL, Robinson S, Hardisty EE, Stamilio DM. Utility of ultrasound examination at 10–14 weeks prior to cell-free DNA screening for fetal aneuploidy. Ultrasound Obstetr Gynecol. 2017;49(4):465–469. doi:10.1002/uog.15995
- Dobson LJ, Reiff ES, Little SE, Wilkins-Haug L, Bromley B. Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell‐free DNA (cfDNA). Prenat Diagn. 2016;36(5):456–462. doi:10.1002/pd.4805
- Zheng YY, Wan XN, Song TT, et al. Clinical application of noninvasive DNA prenatal testing in screening fetal chromosome Aneuploidy in 8594 pregnant women. J Pract Obstetr Gynecol. 2019;35(01):68–71.
- Fu J, Guo HC, Xiao JP, et al. The clinical application of noninvasive prenatal DNA screening in fetal chromosome aneuploidy gene detection.Chinese. J Fam Plan. 2018;26(11):1064–1071.
- Miltoft CB, Rode L, Bundgaard JR, Johansen P, Tabor A. Cell-free fetal DNA in the early and late first trimester. Fetal Diagn Ther. 2020;47(3):1–9. doi:10.1159/000502179
- Palomaki GE, Kloza EM. Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of down syndrome, and impact of repeat testing. Genet Med. 2018;20(11):1312–1323. doi:10.1038/gim.2018.22
- Lambert-Messerlian GM, Eklund EE, Neveux LM, Palomaki GE. Measuring maternal serum screening markers for Down’s syndrome in plasma collected for cell-free DNA testing(Article). J Med Screen. 2017;24(3):113–119. doi:10.1177/0969141316670193