Increased Nuchal Translucency in Fetuses with Normal Karyotype

Authors

  • Simona Anzhel Department of Obstetrics and Gynecology, MU – Varna, Bulgaria; SBAGAL “Prof. Dr. Dimitar Stamatov,” Varna, Bulgaria https://orcid.org/0000-0002-6142-4451
  • Emil Kovachev Department of Obstetrics and Gynecology, MU – Varna, Bulgaria; SBAGAL “Prof. Dr. Dimitar Stamatov,” Varna, Bulgaria https://orcid.org/0000-0002-6142-4451
  • Zhivko Zhekov Department of Obstetrics and Gynecology, MU – Varna, Bulgaria; SBAGAL “Prof. Dr. Dimitar Stamatov,” Varna, Bulgaria
  • Boyan Georgiev Department of Obstetrics and Gynecology, MU – Varna, Bulgaria; SBAGAL “Prof. Dr. Dimitar Stamatov,” Varna, Bulgaria https://orcid.org/0000-0002-3912-1577

DOI:

https://doi.org/10.3889/oamjms.2024.11790

Keywords:

nuchal translucency, chromosomal abnormalities, karyotype, sIUGR

Abstract

BACKGROUND: Increased nuchal translucency (NT) is associated with a high risk of chromosomal abnormalities and genetic syndromes. In fetuses with normal karyotype, thickened NT increases the likelihood of congenital heart malformations, spontaneous abortions, and stillbirths, especially in thickness > 3.5 mm. It was found that in the absence of accompanying structural abnormalities and a normal result of amniocentesis, the postnatal neurological development of the newborns did not differ from the general population.

CASE PRESENTATION: The authors describe a case of sIUGR of monochorionic twins with second trimester selective umbilical cord ablation and livebirth of a healthy singleton.

CONCLUSION: Abnormal NT thickness on early fetal morphology scan in euploid fetuses, especially in twin pregnancies, increase the suspicion for late complications of the pregnancy.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Plum Analytics Artifact Widget Block

References

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 DOI: https://doi.org/10.1016/S0140-6736(97)11280-6

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 DOI: https://doi.org/10.1136/jmedgenet-2018-105746

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 DOI: https://doi.org/10.1002/pd.2396

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 DOI: https://doi.org/10.4103/jmu.jmu_78_22

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 DOI: https://doi.org/10.1002/pd.4143

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 DOI: https://doi.org/10.1002/uog.12342

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 DOI: https://doi.org/10.1002/pd.5847

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. DOI: https://doi.org/10.1002/pd.6024

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 DOI: https://doi.org/10.1002/uog.22019

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 DOI: https://doi.org/10.1016/j.ajhg.2019.10.005

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 DOI: https://doi.org/10.1002/ijgo.14222

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 DOI: https://doi.org/10.1016/j.cca.2010.06.024

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 DOI: https://doi.org/10.1080/14767050802676717

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 DOI: https://doi.org/10.12891/ceog1787.2015

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

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 DOI: https://doi.org/10.1002/uog.7650

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 DOI: https://doi.org/10.17772/gp/1559

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 DOI: https://doi.org/10.1097/MD.0000000000007521

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. DOI: https://doi.org/10.21608/svuijm.2022.136000.1305

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 DOI: https://doi.org/10.21037/atm-21-3826

Downloads

Published

2024-02-10

How to Cite

1.
Anzhel S, Kovachev E, Zhekov Z, Georgiev B. Increased Nuchal Translucency in Fetuses with Normal Karyotype. Open Access Maced J Med Sci [Internet]. 2024 Feb. 10 [cited 2024 Nov. 24];12(1):83-7. Available from: https://oamjms.eu/index.php/mjms/article/view/11790

Issue

Section

Case Reports in Gynecology and Obstetrics

Categories