324
Views
4
CrossRef citations to date
0
Altmetric
Original Articles

Application of expanded noninvasive prenatal test in prenatal diagnosis of fetuses with increased nuchal translucency

ORCID Icon, , , &
Pages 6213-6218 | Received 12 Nov 2020, Accepted 24 Mar 2021, Published online: 14 Oct 2021

References

  • Grossman TB, Bodenlos KL, Chasen ST. Abnormal nuchal translucency: residual risk with normal cell-free DNA screening. J Matern Fetal Neonatal Med. 2020;33(18):3062–3067.
  • Miranda J, Paz Y Miño F, Borobio V, et al. Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency. Ultrasound Obstet Gynecol. 2020;55(5):645–651.
  • Srebniak MI, de Wit MC, Diderich KE, et al. Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT. Mol Cytogenet. 2016;9(1):69.
  • Sinajon P, Chitayat D, Roifman M, et al. Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 2020;55(3):383–390.
  • Practice Bulletin No. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108–e122.
  • Ghi T, Sotiriadis A, Calda P, et al. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48(2):256–268.
  • Grati FR, Malvestiti F, Branca L, et al. Chromosomal mosaicism in the fetoplacental unit. Best Pract Res Clin Obstet Gynaecol. 2017;42:39–52.
  • Lund I, Becher N, Christensen R, et al. Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism. Prenat Diagn. 2020;40(2):244–259.
  • Battaglia P, Baroncini A, Mattarozzi A, et al. Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis. Prenat Diagn. 2014;34(8):739–747.
  • Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA. 2008;105(42):16266–16271.
  • Chiu RW, 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 USA. 2008;105(51):20458–20463.
  • Petersen AK, Cheung SW, Smith JL, et al. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Am J Obstet Gynecol. 2017;217(6):691.e1–e6.
  • Schwartz S, Kohan M, Pasion R, et al. Clinical experience of laboratory follow-up with noninvasive prenatal testing using cell-free DNA and positive microdeletion results in 349 cases. Prenat Diagn. 2018;38(3):210–218.
  • 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.
  • Chen S, Lau TK, Zhang C, et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013;33(6):584–590.
  • Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(1):7–15.
  • Borrell A, Casals E, Fortuny A, et al. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages: an interventional study. Prenat Diagn. 2004;24(7):541–545.
  • Egloff M, Hervé B, Quibel T, et al. Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study. Ultrasound Obstet Gynecol. 2018;52(6):715–721.
  • Bakker M, Pajkrt E, Bilardo CM. Increased nuchal translucency with normal karyotype and anomaly scan: what next. Best Pract Res Clin Obstet Gynaecol. 2014;28(3):355–366.
  • Petersen OB, Smith E, Van Opstal D, et al. Nuchal translucency of 3.0–3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review. Acta Obstet Gynecol Scand. 2020;99(6):765–774.
  • Maya I, Yacobson S, Kahana S, et al. Cut-off value of nuchal translucency as indication for chromosomal microarray analysis. Ultrasound Obstet Gynecol. 2017;50(3):332–335.
  • Screening for Fetal Chromosomal Abnormalities: ACOG practice bulletin summary, Number 226. Obstet Gynecol. 2020;136(4):859–867.
  • Lan L, Wu H, She L, et al. Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening. J Clin Lab Anal. 2020;34(8):e23347.
  • Cotarelo-Pérez C, Oancea-Ionescu R, Asenjo-de-la-Fuente E, et al. A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. Eur J Obstet Gynecol Reprod Biol X. 2019;1:100002.
  • Yatsenko SA, Peters DG, Saller DN, et al. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med. 2015;17(10):836–838.
  • Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem. 2012;58(7):1148–1151.
  • Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem. 2015;61(4):608–616.
  • Liu H, Gao Y, Hu Z, et al. Performance evaluation of NIPT in detection of chromosomal copy number variants using low-coverage whole-genome sequencing of plasma DNA. PLoS One. 2016;11(7):e0159233.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.