Fetal Dilated Jugular Lymphatic Sacs on First-Trimester Ultrasound and Their Implications in Antenatal Screening.

IF 1.6 3区医学 Q3 OBSTETRICS & GYNECOLOGY

Fetal Diagnosis and Therapy Pub Date : 2025-08-20 DOI:10.1159/000547030

Ruxanda Rusu, Daniel L Rolnik, Valentina De Robertis, Maurizio Guido, Tamara Stampalija, Paolo Volpe, Ilaria Fantasia

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引用次数: 0

Abstract

Introduction: The aim of this study was to investigate clinical significance, rate of genetic anomalies, and fetal malformations in fetuses with dilated jugular lymphatic sacs (JLS) in the first trimester, overall and according to nuchal translucency (NT) thickness.

Methods: This is a retrospective multicenter cohort study of fetuses with dilated JLS at the first-trimester scan. NT thickness, genetic evaluation, and fetal malformation data were collected. Logistic regression analysis was performed to evaluate impact of NT measurement on adverse outcomes.

Results: Eighty-four fetuses were included. Dilated JLS was associated with an increased NT in 75 (89.3%) fetuses; fetal structural malformations in 38 (45.2%); and genetic anomalies in 49 (64.5%). NT measurement remains the strongest predictor of genetic or structural abnormalities (OR 1.567, 95% confidence interval: 1.226-2.124; p = 0.001). Significantly fewer live births observed in the group with NT >99th percentile (p < 0.001). Among cases with isolated JLS, a normal postnatal outcome was reported in 6 (66.7%).

Conclusion: The first-trimester dilated JLS are highly associated with genetic disorders and/or fetal malformations, but an increased NT remains the most important predictive factor. In cases with normal NT, dilated JLS is mostly a transient finding but approximately one-third of cases are at increased risk of adverse outcomes.

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妊娠早期超声检查胎儿颈静脉淋巴囊扩张及其在产前筛查中的意义。

目的：探讨颈静脉淋巴囊（JLS）扩张胎儿在妊娠早期的临床意义、遗传异常及胎儿畸形发生率。方法：回顾性多中心队列研究妊娠早期扫描时JLS扩张的胎儿。收集NT厚度、遗传评价和胎儿畸形数据。采用Logistic回归分析评估NT测量对不良结局的影响。结果：共纳入84例胎儿。75例（89.3%）胎儿JLS扩张与NT升高相关；胎儿结构畸形38例（45.2%），遗传异常49例（64.5%）。NT测量仍然是遗传或结构异常的最强预测因子（or 1.567, 95% CI 1.226 ~ 2.124; p = 0.001）。结论：妊娠早期扩张的JLS与遗传疾病和/或胎儿畸形高度相关，但NT升高仍然是最重要的预测因素。在NT正常的病例中，扩张的JLS大多是短暂的发现，但大约三分之一的病例会增加不良后果的风险。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Fetal Diagnosis and Therapy 医学-妇产科学

CiteScore

4.70

自引率

9.10%

发文量

审稿时长

6-12 weeks

期刊介绍： The first journal to focus on the fetus as a patient, ''Fetal Diagnosis and Therapy'' provides a wide range of biomedical specialists with a single source of reports encompassing the common discipline of fetal medicine.