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Study on prenatal diagnosis and pregnancy outcome analysis of fetuses with cardiac rhabdomyoma

Journal of Perinatology volume 43, pages 864–870 (2023)Cite this article

Subjects

Abstract

Objective

To investigate the prenatal imaging characteristics, genetic characteristics and pregnancy outcome of fetuses with cardiac rhabdomyoma.

Study design

The prenatal ultrasound, cranial MRI imaging information and genetic test results of 35 fetuses prenatally diagnosed with cardiac rhabdomyoma were collected and retrospectively analyzed, and the pregnancy outcome was followed up.

Result

Cardiac rhabdomyomas mainly occurred in left ventricular wall and ventricular septum; cranial MRI imaging was found abnormal in 38.1% (8/21) of the fetuses; genetic test was found abnormal in 58.82% (10/17) of the fetuses; the fetus was born in 12 cases and the pregnancy was terminated in 23 cases.

Conclusion

TRIO whole exome sequencing (TrioWES) is recommended as the genetic test regime for cardiac rhabdomyoma. The comprehensive evaluation of prognosis of fetuses needs to consider the genetic results and whether the brain is involved; the prognosis of fetuses with simple cardiac rhabdomyoma is good.

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Fig. 1: Fetal echocardiography.
Fig. 2: Fetal cranial MRI.

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Data availability

All data on the study is available.

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Acknowledgements

This study was supported by Medical Science and Technology Projects of Henan (China) (Grant Number:212102310471).

Author information

Authors and Affiliations

  1. Prenatal Diagnosis Center, The Third Afffliated Hospital of Zhengzhou University, Zhengzhou, China

    Shanshan Zhai, Ling Liu, Limin Yuan, Lanlan Zhao, Yuexia Lv, Jing Guo & Xuewen Yang

Authors
  1. Shanshan Zhai
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  2. Ling Liu
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  3. Limin Yuan
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  4. Lanlan Zhao
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  5. Yuexia Lv
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  6. Jing Guo
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  7. Xuewen Yang
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Contributions

The author, LL, contributed to the study conception and design. Material preparation, data collection and analysis were performed by SZ, LY, LZ, YL, JG and XY. The first draft of the manuscript was written by SZ and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Ling Liu.

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Competing interests

The authors declare no competing interests.

Ethics approval

This study was approved by the ethics committee of the Third Affiliated Hospital of Zhengzhou University. And the contents of the patients were obtained for the data included in the article and for the publication of this article.

Consent for publication

The study was performed in accordance with the Declaration of Helsinki.

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Zhai, S., Liu, L., Yuan, L. et al. Study on prenatal diagnosis and pregnancy outcome analysis of fetuses with cardiac rhabdomyoma. J Perinatol 43, 864–870 (2023). https://doi.org/10.1038/s41372-023-01673-w

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