Increased Nuchal Translucency in Fetuses with Normal Karyotype

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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. Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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. Search in Google Scholar

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 Search in Google Scholar