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

## TL;DR

A 17-week-old neonate with thoracic ectopia cordis was studied to understand the role of genetic tests and imaging in diagnosing this rare heart defect.

## Contribution

The study highlights the limitations of genetic testing and the importance of fetal echocardiography in diagnosing ectopia cordis.

## Key findings

- Genetic tests showed low risk for birth defects, but could not predict the heart anomaly.
- Fetal echocardiography was more effective than ultrasound in diagnosing thoracic ectopia cordis.
- Continued folic acid use after the first trimester may be a risk factor for this defect.

## Abstract

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.

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.

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.