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Increased Nuchal Translucency in Fetuses with Normal Karyotype Cover

Increased Nuchal Translucency in Fetuses with Normal Karyotype

Open Access
|Feb 2024

References

  1. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet. 1998;352(9125):343-6. https://doi.org/10.1016/s0140-6736(97)11280-6 PMid:9717920
  2. Stuurman KE, Joosten M, van der Burgt I, Elting M, Yntema HG, Meijers-Heijboer H, et al. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: Update on genetic testing in the NGS era. J Med Genet. 2019;56(10):654-61. https://doi.org/10.1136/jmedgenet-2018-105746 PMid:310401671
  3. Bilardo CM, Timmerman E, Pajkrt E, van Maarle M. Increased nuchal translucency in euploid fetuses--what should we be telling the parents? Prenat Diagn. 2010;30(2):93-102. https://doi.org/10.1002/pd.2396 PMid:20077440
  4. Chen CP. Prenatal diagnosis of euploid increased nuchal translucency on fetal ultrasound (I): Noonan syndrome: Prenatal diagnosis and genetic testing. J Med Ultrasound. 2022;30(4):257-60. https://doi.org/10.4103/jmu.jmu_78_22 PMid:368447610
  5. Ayräs O, Tikkanen M, Eronen M, Paavonen J, Stefanovic V. Increased nuchal translucency and pregnancy outcome: A retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn. 2013;33(9):856-62. https://doi.org/10.1002/pd.4143 PMid:23613307
  6. Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: Performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2013;41(1):102-13. http://doi.org/10.1002/uog.12342 PMid:232807393
  7. Ramkrishna J, Menezes M, Humnabadkar K, Tse C, Maxfield MJ, da Silva Costa F, et al. Outcomes following the detection of fetal edema in early pregnancy prior to non-invasive prenatal testing. Prenat Diagn. 2021;41(2):241-7. https://doi.org/10.1002/pd.5847 PMid:330678007
  8. Kelley J, McGillivray G, Meagher S, Hui L. Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents? Prenat Diagn. 2021;41(10):1305-15. https://doi.org/10.1002/pd.6024 PMid:342974201.
  9. Sileo FG, Kulkarni A, Branescu I, Homfray T, Dempsey E, Mansour S, et al. Non-immune fetal hydrops: Etiology and outcome according to gestational age at diagnosis. Ultrasound Obstet Gynecol. 2020;56(3):416-21. http://doi.org/10.1002/uog.22019 PMid:321967901
  10. Van der Meij KR, Sistermans EA, Macville MV, Stevens SJ, Bax CJ, Bekker MN, et al. TRIDENT-2: National implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands. Am J Hum Genet. 2019;105(6):1091-101. https://doi.org/10.1016/j.ajhg.2019.10.005 PMid:317081181
  11. Narava S, Balbir Singh S, Barpanda S, Bricker L. Outcome of pregnancies with first-trimester increased nuchal translucency and cystic hygroma in a tertiary maternity hospital in United Arab Emirates. Int J Gynaecol Obstet. 2022;159(3):841-9. https://doi.org/10.1002/ijgo.14222 PMid:354352549
  12. Hourrier S, Salomon LJ, Dreux S, Muller F. Screening for adverse pregnancy outcome at early gestational age. Clin Chim Acta. 2010;411(21-22):1547-52. https://doi.org/10.1016/j.cca.2010.06.024 PMid:205998602
  13. Sheizaf B, Sheiner E, Fink M, Hershkovitz R, Mazor M, Wiznitzer A. A significant linear association exists between nuchal translucency thickness and adverse perinatal outcome in euploid fetuses. J Matern Fetal Neonatal Med. 2009;22(6):479-84. https://doi.org/10.1080/14767050802676717 PMid:194796424
  14. Daniilidis A, Balaouras D, Psarra N, Chitzios D, Tzafettas M, Balaouras G, et al. Increased nuchal translucency and diaphragmatic hernia. A case report. Clin Exp Obstet Gynecol. 2015;42(2):237-9. PMid:26054128
  15. De Domenico R, Faraci M, Hyseni E, Di Prima FA, Valenti O, Monte S, et al. Increased nuchal traslucency in normal karyotype fetuses. J Prenat Med 2011;5:23-6. PMid:22439071
  16. Timmerman E, Pajkrt E, Maas SM, Bilardo CM. Enlarged nuchal translucency in chromosomally normal fetuses: Strong association with orofacial clefts. Ultrasound Obstet Gynecol. 2010;36(4):427-32. https://doi.org/10.1002/uog.7650 PMid:204994062
  17. Bijok J, Ziora-Jakutowicz K, Ilnicka A, Pawłowska B, Jóźwiak A, Dangel J, et al. Increased nuchal translucency in chromosomally normal fetuses and pregnancy outcomes--a retrospective study. Ginekol Pol. 2013;84(3):172-179. https://doi.org/10.17772/gp/1559 PMid:237008439
  18. Socolov D, Socolov R, Gorduza VE, Butureanu T, Stanculescu R, Carauleanu A, et al. Increased nuchal translucency in fetuses with a normal karyotype-diagnosis and management: An observational study. Medicine (Baltimore). 2017;96(29):e7521. http://doi.org/10.1097/MD.0000000000007521 PMid:287237647
  19. Abd El-Gaber AE, Mohamed MH, Khodary MM, Mohamed AA, et al. Predictive values of first trimester ultrasound screening for twin-to twin transfusion syndrome and selective intrauterine growth restriction in monochorionic twin pregnancies. SVU-Int J Med Sci. 2022;5(2):329-335.
  20. Zhu YD, Bian JY, Liao YP, Hu T, Wang MY, Chen YG, et al. Retrospective validation of 11-13 weeks’ gestation ultrasound characteristics as predictive tools for twin-twin transfusion syndrome and selective intrauterine growth restriction in monochorionic diamniotic twin pregnancies. Ann Transl Med. 2021;9(18):1417. https://doi.org/10.21037/atm-21-3826 PMid:347339697
Language: English
Page range: 83 - 87
Submitted on: Sep 9, 2023
Accepted on: Dec 21, 2023
Published on: Feb 23, 2024
Published by: Sciendo
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2024 Simona Anzhel, Emil Kovachev, Zhivko Zhekov, Boyan Georgiev, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial 4.0 License.