117
Views
1
CrossRef citations to date
0
Altmetric
Original Research

Prenatal Diagnostic Testing Following High-Risk Result from Serological Screening: Which Shall We Select?

, , , , , ORCID Icon, & show all
Pages 879-888 | Published online: 22 Sep 2021

References

  • Wald NJ. Prenatal screening for open neural tube defects and Down syndrome: three decades of progress. Prenat Diagn. 2010;30(7):619–621. doi:10.1002/pd.2517
  • Yao Y, Liao Y, Han M, Li SL, Luo J, Zhang B. Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis. Sci Rep. 2016;6:18866. doi:10.1038/srep18866
  • Spencer K. Second trimester prenatal screening for Down’s syndrome using alpha-fetoprotein and free beta hCG: a seven year review. BJOG. 1999;106(12):1287–1293. doi:10.1111/j.1471-0528.1999.tb08183.x
  • Wang YY, Luo J, Zhu MW, Liu LN, Ma X. Second-trimester double or triple screening for Down syndrome: a comparison of Chinese and Caucasian populations. Int J Gynaecol Obstet. 2006;94(1):67–72. doi:10.1016/j.ijgo.2006.04.030
  • Schielen PC, van Leeuwen-spruijt M, Belmouden I, Elvers LH, Jonker M, Loeber JG. Multi-centre first-trimester screening for Down syndrome in the Netherlands in routine clinical practice. Prenat Diagn. 2006;26(8):711–718. doi:10.1002/pd.1486
  • Wright D, Spencer K, Nix B. First trimester screening for Down syndrome using free beta hCG, total hCG and PAPP-A: an exploratory study. Prenat Diagn. 2007;27(12):1118–1122. doi:10.1002/pd.1844
  • Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014;35(2):118–126. doi:10.1159/000357430
  • Spaggiari E, Czerkiewicz I, Sault C, et al. Impact of including or removing nuchal translucency measurement on the detection and false-positive rates of first-trimester down syndrome screening. Fetal Diagn Ther. 2016;40(3):214–218. doi:10.1159/000442198
  • Yu B, Lu BY, Zhang B, et al. Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood. Medicine (Baltimore). 2017;96(27):e7114. doi:10.1097/MD.0000000000007114
  • Zhang B, Lu BY, Yu B, et al. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res. 2017;45(2):621–630. doi:10.1177/0300060517695008
  • Zhou Q, Zhu ZP, Zhang B, Yu B, Cai ZM, Yuan P. Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results. Ann Transl Med. 2019;7(14):317. doi:10.21037/atm.2019.06.57
  • 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. doi:10.1038/gim.2017.91
  • Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201–212. doi:10.1016/j.fertnstert.2018.01.005
  • Ganapathi M, Nahum O, Levy B. Prenatal diagnosis using chromosomal SNP microarrays. Methods Mol Biol. 2019;1885:187–205.
  • Jiang T, Ding J, Zhang XQ, et al. Analysis of Down syndrome failed to be diagnosed after prenatal screening: a multicenter study. Medicine (Baltimore). 2017;96(24):e7166. doi:10.1097/MD.0000000000007166
  • Wald NJ, Hackshaw AK, Walters J, et al. First and second trimester antenatal screening for down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen. 2003;10(2):56–104.
  • Wald NJ, Rodeck C, Hackshaw AK, et al. SURUSS in perspective. BJOG. 2004;111:521–531. doi:10.1111/j.1471-0528.2004.00193.x
  • Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353(19):2001. doi:10.1056/NEJMoa043693
  • Chen YP, He ZQ, Shi Y, et al. Not all chromosome aberrations can be detected by NIPT in women at advanced maternal age: a multicenter retrospective study. Clin Chim Acta. 2018;486:232–236. doi:10.1016/j.cca.2018.08.018
  • Yu B, Li H, Chen YP, et al. Clinical evaluation of NIPS for women at advanced maternal age: a multicenter retrospective study. J Matern Fetal Neonatal Med. 2018;32:1–6.
  • Shi Y, Ma J, Xue Y, Wang J, Yu B, Wang T. The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study. Ann Transl Med. 2019;7(14):318. doi:10.21037/atm.2019.06.63
  • Yu B, Long W, Yang Y, et al. Newborn screening and molecular profile of congenital hypothyroidism in a Chinese population. Front Genet. 2018;9:509. doi:10.3389/fgene.2018.00509
  • de Jong A, Maya I, van Lith JM. Prenatal screening: current practice, new developments, ethical challenges. Bioethics. 2015;29:1–8. doi:10.1111/bioe.12123
  • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–2184. doi:10.1056/NEJMoa1203382
  • Carlson LM, Vora NL. Prenatal diagnosis: screening and diagnostic tools. Obstet Gynecol Clin North Am. 2017;44(2):245–256. doi:10.1016/j.ogc.2017.02.004
  • Wou K, Levy B, Wapner RJ. Chromosomal microarrays for the prenatal detection of microdeletions and microduplications. Clin Lab Med. 2016;36(2):261–276. doi:10.1016/j.cll.2016.01.017
  • Rotshenker-Olshinka K, Moshe NS, Weiss O, et al. Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do? J Assist Reprod Genet. 2021;38:719–725. doi:10.1007/s10815-020-02055-3
  • Sagi-Dain L, Cohen Vig L, Kahana S, et al. Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies. Genet Med. 2019;21(11):2462–2467. doi:10.1038/s41436-019-0550-x
  • Wu X, An G, Xie X, et al. Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age. J Clin Lab Anal. 2019;34(25):e23117.