Evaluation of first-trimester morphological ultrasound findings as predictors of aneuploidies and perinatal outcomes: A retrospective study in a private referral hospital
DOI:
https://doi.org/10.33448/rsd-v15i5.51043Keywords:
Nuchal Translucency Measurement, Prenatal Diagnosis, Ultrasonography, Prenatal, Aneuploidy.Abstract
The general objective of this study is to evaluate the association between nuchal translucency (NT) ranges observed in first-trimester morphological ultrasound and the recording of adverse perinatal outcomes in a retrospective sample of pregnant women treated at Rede Mater Dei de Saúde. This is an observational, retrospective, cross-sectional, descriptive-analytical study conducted with 1,120 pregnant women treated at a private referral hospital, with data collected between March 2024 and February 2025. Nuchal translucency was analyzed in four ranges: ≤ 2.5 mm, > 2.5 and ≤ 3.0 mm, > 3.0 and ≤ 3.5 mm, and > 3.5 mm. The associations between nuchal translucency ranges and outcomes were evaluated using the chi-square test and Fisher’s exact test, while accuracy was estimated through sensitivity, specificity, positive predictive value, and negative predictive value. A statistically significant association was found between increased nuchal translucency and confirmed aneuploidy, prematurity, congenital malformation at birth, neonatal intensive care unit admission, and miscarriage. The frequency of aneuploidy increased from 0.6% in the ≤ 2.5 mm range to 85.7% in the > 3.5 mm range. The adopted cutoff point of > 2.5 mm showed a sensitivity of 53.3% and specificity of 98.9%, while > 3.5 mm showed specificity of 99.9% and a positive predictive value of 85.7%. It is concluded that nuchal translucency was associated with adverse perinatal outcomes and showed usefulness as an initial screening tool for aneuploidies, especially at values above 2.5 mm.
References
Almeida, G. R., Simões, R. S., Silvinato, A., & Bernardo, W. M. (2020). Ultrassonografia no primeiro trimestre da gravidez: Projeto Diretrizes. Associação Médica Brasileira. https://amb.org.br/wp-content/uploads/2021/04/ULTRASSONOGRAFIA-NO-PRIMEIRO-TRIMESTRE-DA-GRAVIDEZ-FINAL-12.09.2020.pdf.
Bet, B. B., et al. (2024). Adverse pregnancy outcome in fetuses with early increased nuchal translucency: Prospective cohort study. Ultrasound in Obstetrics & Gynecology, 64(2), 164–172. https://doi.org/10.1002/uog.27623.
Bianchi, B., et al. (2025). Pregnancy outcomes in patients with increased nuchal translucency using non-invasive prenatal testing and first trimester ultrasound. European Journal of Obstetrics & Gynecology and Reproductive Biology, 313, Article 114572. https://doi.org/10.1016/j.ejogrb.2025.114572.
Bilardo, C. M., et al. (2023). ISUOG practice guidelines (updated): Performance of 11–14-week ultrasound scan. Ultrasound in Obstetrics & Gynecology, 61(1), 127–143. https://doi.org/10.1002/uog.26106.
Calero-Zea, M. A., Martínez-Calero, A. G., Martínez-Calero, M. D., & Martínez-Calero, N. A. (2023). Valor predictivo del ultrasonido como único tamizaje de cromosomopatías del primer trimestre gestacional. Polo del Conocimiento, 8(6), 1153–1175. https://doi.org/10.23857/pc.v8i6.5707.
Coelho, J. J. L. (2014). O desempenho da medida da translucência nucal na predição do desfecho gestacional [Dissertação de mestrado, Universidade Federal do Rio de Janeiro, Maternidade Escola]. Pantheon UFRJ. https://pantheon.ufrj.br/bitstream/11422/16227/1/JJLCoelho.pdf.
Dias, F. C. N. (2017). Correlação entre translucência nucal aumentada, rastreio bioquímico, amniocentese e desfecho perinatal no CHCB [Dissertação de mestrado, Universidade da Beira Interior]. Oasisbr. https://www.oasisbr.ibict.br/vufind/Record/RCAP_c0c7693349b710c5ecb7c81913fb78ed.
Emer, C. S. C., Duque, J. A., Müller, A. L., Gus, R., Sanseverino, M. T., Silva, A. A., & Magalhães, J. A. (2015). Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21. Revista Brasileira de Ginecologia e Obstetrícia, 37(7), 333–338. https://doi.org/10.1590/SO100-720320150005373.
Figueiredo, R. G., Patino, C. M., & Ferreira, J. C. (2025). Cross-sectional studies: Understanding applications, methodological issues, and valuable insights. Jornal Brasileiro de Pneumologia, 51(1), Article e20250047. https://doi.org/10.36416/1806-3756/e20250047.
Filho, E. B., Corrêa, L. F. B., Lafetá, M. S. F., & Pinto, V. A. (2025). Utilidade da translucência nucal como marcador ultrassonográfico precoce de anomalias fetais e cromossomopatias. Archives of Health, 6(4, special edition), 01–06. https://doi.org/10.46919/archv6n4espec-15870.
Huang, J., Wu, D., He, J.-H., Wang, J.-Y., Li, X., Wang, Z.-Y., Wang, Y., & Liu, H.-Y. (2024). Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: A comprehensive analysis of 2,272 singleton pregnancies in women under 35. Frontiers in Medicine, 11, Article 1376319. https://doi.org/10.3389/fmed.2024.1376319.
Hess, D. R. (2023). Observational studies. Respiratory Care, 68(11), 1585–1597. https://doi.org/10.4187/respcare.11170.
Korsgaard, S., & Schmidt, M. (2024). Retrospektive og prospektive studiedesign. Ugeskrift for Læger, 186(15). https://doi.org/10.61409/V12230789.
Lust, E. E. R., et al. (2025). Clinical utility of nuchal translucency measurement in first-trimester ultrasound screening in a setting with first-tier NIPT for aneuploidy screening. Prenatal Diagnosis. https://doi.org/10.1002/pd.70047.
Maia, C. B. (2014). Predição do resultado perinatal em gestações trigemelares [Dissertação de mestrado, Universidade de São Paulo, Faculdade de Medicina]. Biblioteca Digital USP. https://teses.usp.br/teses/disponiveis/5/5139/tde-26082014-114541/pt-br.php.
Matarrelli, B., et al. (2025). Outcome of fetuses with early increased nuchal translucency: Systematic review and meta-analysis. Ultrasound in Obstetrics & Gynecology, 66(2), 147–154. https://doi.org/10.1002/uog.29260.
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia da pesquisa científica [E-book]. Universidade Federal de Santa Maria. http://repositorio.ufsm.br/handle/1/15824
Pérez-Guerrero, E. E., Guillén-Medina, M. R., Márquez-Sandoval, F., Vera-Cruz, J. M., Gallegos-Arreola, M. P., Rico-Méndez, M. A., Aguilar-Velázquez, J. A., & Gutiérrez-Hurtado, I. A. (2024). Methodological and statistical considerations for cross-sectional, case-control, and cohort studies. Journal of Clinical Medicine, 13(14), Article 4005. https://doi.org/10.3390/jcm13144005.
Ramos, B. A., Luiz Júnior, E., Siqueira, L. A., Chaves, P. L., Evangelista, P. G., & Amaral, W. N. (2017). Valor preditivo da translucência nucal para cromossomopatias. Revista da Sociedade Brasileira de Ultrassonografia, 23, 7–10. https://revista.sbus.org.br/wp-content/uploads/rbus-setembro-de-2017-v1-23ed.pdf.
Risemberg, R. I. C., Wakin, M., & Shitsuka, R. (2026). A importância da metodologia científica no desenvolvimento de artigos científicos. E-Acadêmica, 7(1), e0171675. https://doi.org/10.52076/eacad-v7i1.675.
Santana, E. F. M., Peixoto, A. B., Traina, E., & Barreto, E. Q. (2018). Ultrassonografia no primeiro trimestre da gravidez. Federação Brasileira das Associações de Ginecologia e Obstetrícia. https://fi-admin.bvsalud.org/document/view/zmpgz.
Shitsuka, R. et al. (2014). Matemática fundamental para tecnologia. (2ed). Editora Érica.
Silva, V., Almeida, G., Torres, S., & Miguelote, R. (2021). Increased nuchal translucency in euploid fetuses and long-term neurodevelopment. Acta Obstétrica e Ginecológica Portuguesa, 15(2), 117–124. https://www.fspog.org/images/editor2/07_aogp-d-20-00056.pdf.
Sucaldito, M. S. F. P., Besa, J. J. V., & Palileo-Villanueva, L. M. (2025). The diagnostic performance of nuchal translucency alone as a screening test for Down syndrome: A systematic review and meta-analysis. Acta Medica Philippina, 59, 1–17. https://doi.org/10.47895/amp.vi0.9841.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Luiza Barros Andrade, Wallisson Fonseca Pinheiro, Carlos Henrique Mascarenhas Silva, Fernanda Menicucci
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
