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伊朗赞詹一家医院的胸壁心外畸形病例报告。

A Case Report of Thoracic Ectopia Cordis in a Hospital in Zanjan, Iran.

作者信息

Hosseini Mehdi, Zamani Hassan, Moghimi Shadi, Nekoufar Aref

机构信息

Department of Pediatrics Faculty of Medicine Zanjan University of Medical Sciences, Zanjan, Iran.

Department of Pediatric Cardiology Faculty of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Case Rep Pediatr. 2024 Sep 10;2024:3912085. doi: 10.1155/2024/3912085. eCollection 2024.

Abstract

METHODS

A 17-week-old female neonate with a history of prenatal diagnosis of congenital heart anomaly was admitted to Ayatollah Mousavi Hospital in Zanjan, Iran. For the diagnosis of thoracic ectopia, cordis fetal echocardiography and ultrasonography were performed. Moreover, the noninvasive prenatal testing (NIPT) genetic test performed in the 10th week of pregnancy was evaluated.

RESULTS

The neonate was diagnosed with thoracic ectopia cordis, with the heart located outside the thoracic cavity and covered by a thin membrane. The Z scores of the analyzed maternal venous blood chromosomes were between +6 and -6, and all chromosomes had a low risk in terms of the risk of birth defects. The results of this study revealed that genetic test analysis is not enough to diagnose and predict congenital anomalies and defects. Furthermore, the findings showed that the fetus's mother continued to take folic acid after the first 3 months of pregnancy. This can be one of the risk factors involved in causing this heart defect.

CONCLUSION

One of the important results of this study was that the diagnostic findings of ultrasound were normal, but the findings of echocardiography were reported as abnormal. This shows that fetal echocardiography is better than ultrasound imaging in diagnosing ectopia cordis. In addition, it is recommended that pregnant women should avoid taking folic acid after the first trimester of pregnancy.

摘要

方法

一名有先天性心脏异常产前诊断史的17周龄女新生儿被收治入伊朗赞詹的阿亚图拉·穆萨维医院。为诊断胸外心脏异位,进行了胎儿超声心动图和超声检查。此外,还评估了在妊娠第10周进行的无创产前检测(NIPT)基因检测。

结果

该新生儿被诊断为胸外心脏异位,心脏位于胸腔外,被一层薄膜覆盖。分析的孕妇静脉血染色体的Z值在+6至-6之间,所有染色体在出生缺陷风险方面风险较低。本研究结果表明,基因检测分析不足以诊断和预测先天性异常和缺陷。此外,研究结果显示胎儿的母亲在妊娠前3个月后继续服用叶酸。这可能是导致这种心脏缺陷的风险因素之一。

结论

本研究的重要结果之一是超声诊断结果正常,但超声心动图结果报告为异常。这表明胎儿超声心动图在诊断胸外心脏异位方面优于超声成像。此外,建议孕妇在妊娠首三个月后应避免服用叶酸。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7983/11407891/7fdad056b30f/CRIPE2024-3912085.001.jpg

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