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颈静脉淋巴囊扩大是否会增加颈项透明层厚度提示遗传和结构异常的风险?

Does the Presence of Extended Jugular Lymphatic Sacs Add More Risk to Nuchal Thickness for Genetic and Structural Abnormality?

作者信息

Obut Mehmet, Akay Arife, Müjde Ibanoglu Can, Çelik Özge Yucel, Öncü Asya Kalayci, Acar Zuat, Seker Erdal, Saglam Erkan, Iskender Cantekin

机构信息

Department of Perinatology, Etlik Zübeyde Hanim Women's Health Training and Research Hospital, Ankara, Turkey.

Department of Gynecology and Obstetrics, Etlik Zübeyde Hanim Women's Health Training and Research Hospital, Ankara, Turkey.

出版信息

J Med Ultrasound. 2022 Nov 9;31(2):119-126. doi: 10.4103/jmu.jmu_225_21. eCollection 2023 Apr-Jun.

DOI:10.4103/jmu.jmu_225_21
PMID:37576423
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10413408/
Abstract

BACKGROUND

The risks added by extended jugular lymphatic sacs (EJLS) to increased nuchal translucency (NT) including genetic and structural abnormalities and pregnancy outcomes have not been previously investigated, which this study aims to investigate.

METHODS

The data of 155 singleton pregnancies with increased fetal NT (≥95 percentile) of these 20 with fetal EJLS were evaluated retrospectively. Patients were stratified according to NT thickness such that ≥95 percentile - 3.5 mm, 3.6-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, ≥6.5 mm, and grouped according to the presence of EJLS. Pregnancy outcomes, genetic and structural abnormalities were assessed by comparing EJLS with non-EJSL cases (n-EJLS).

RESULTS

Associated with NT, the incidence of the presence of EJLS increased with NT, from 4.5% at the ≥95 percentile - 3.5 mm to 30.8% when NT ≥5.5 mm. In the n-EJLS group, the proportion of fetuses with structural and genetic abnormalities increased as the measurement of NT increased. This correlation was not observed in the EJLS group. Compared to n-EJLS, cases with EJLS had a higher rate of fetal structural (38.5% vs. 75%, = 0.003) and genetic (18.5% vs. 45%, = 0.005) anomalies and a lower term live birth rate (59.3% vs. 15%, < 0.001).

CONCLUSION

The increasing rate of EJLS was seen as NT increased. Compared to n-EJLS, the EJLS cases had a higher rate poor pregnancy outcomes and fetal genetic and structural abnormalities.

摘要

背景

颈静脉淋巴囊扩张(EJLS)对颈项透明层(NT)增厚所增加的风险,包括遗传和结构异常以及妊娠结局,此前尚未进行过研究,本研究旨在对此进行调查。

方法

回顾性评估了这20例伴有胎儿EJLS的155例单胎妊娠且胎儿NT增厚(≥第95百分位数)的数据。根据NT厚度将患者分层为≥第95百分位数 - 3.5mm、3.6 - 4.4mm、4.5 - 5.4mm、5.5 - 6.4mm、≥6.5mm,并根据是否存在EJLS进行分组。通过比较EJLS与非EJLS病例(n - EJLS)来评估妊娠结局、遗传和结构异常情况。

结果

与NT相关,EJLS的发生率随NT增加而升高,从≥第95百分位数 - 3.5mm时的4.5%增至NT≥5.5mm时的30.8%。在n - EJLS组中,随着NT测量值增加,具有结构和遗传异常的胎儿比例增加。在EJLS组中未观察到这种相关性。与n - EJLS相比,EJLS病例的胎儿结构异常(38.5%对75%,P = 0.003)和遗传异常(18.5%对45%,P = 0.005)发生率更高,足月活产率更低(59.3%对15%,P < 0.001)。

结论

随着NT增加,EJLS的发生率升高。与n - EJLS相比,EJLS病例的妊娠结局不良以及胎儿遗传和结构异常的发生率更高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ccf/10413408/de9a6199e3e7/JMU-31-119-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ccf/10413408/de9a6199e3e7/JMU-31-119-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ccf/10413408/de9a6199e3e7/JMU-31-119-g001.jpg

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本文引用的文献

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Pregnancy outcome in foetuses with increased nuchal translucency - 10-years' experience in a prenatal medical practice.胎儿颈项透明层增厚的妊娠结局——产前医学实践 10 年经验。
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Integrin-α5β1 is not required for mural cell functions during development of blood vessels but is required for lymphatic-blood vessel separation and lymphovenous valve formation.整合素-α5β1 在脉管系统发育过程中的壁细胞功能中不是必需的,但在淋巴管-血管分离和淋巴静脉瓣膜形成中是必需的。
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Enlarged nuchal translucency in chromosomally normal fetuses: strong association with orofacial clefts.染色体正常胎儿的颈项透明层增厚:与口腔面部裂的强烈关联。
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