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Case Report

Prenatal Diagnosis of Costello Syndrome: A Case Report

Karuna Mandal Yadav, Nisha Kumari

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Indian Journal of Maternal-Fetal & Neonatal Medicine 13(1):p 19-23, January-June 2026. | DOI: https://doi.org/10.21088/ijmfnm.2347.999X.13126.3

How Cite This Article:

Karuna Mandal Yadav, Nisha Kumari. Prenatal Diagnosis of Costello Syndrome: A Case Report. Indian J Matern Fetal Neonatal Med. 2026; 13(1): 19-23.

Timeline

Received : December 09, 2025         Accepted : January 24, 2026          Published : June 30, 2026

Abstract

Introduction: Costello Syndrome (CS) is a rare RASopathy caused by germline activating variants in the HRAS gene. The disorder presents with multisystem involvement and overlaps phenotypically with other RASopathies, making prenatal diagnosis challenging. Case Report: We describe a gravida 2 woman referred for evaluation after a first-trimester scan revealed increased nuchal translucency (NT) and nasal bone hypoplasia. Subsequent ultrasound showed progressive fetal abnormalities including generalized edema, bilateral pleural effusion, redundant skin folds, tachycardia, echogenic bowel, and unilateral talipes equinovarus. Microarray analysis from chorionic villus sampling was normal. Whole exome sequencing detected a pathogenic HRAS variant (c.37G>T; p.Gly13Cys), confirming Costello Syndrome. Following counselling, the couple opted for medical termination. Posttermination examination correlated with ultrasound findings. Conclusion: This case highlights the importance of integrating detailed fetal imaging with advanced genomic testing for the prenatal diagnosis of single-gene disorders such as Costello Syndrome. Early diagnosis facilitates informed decisionmaking and targeted counselling.

References

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Data Sharing Statement

There are no additional data available. All raw data and code are available upon request.

Funding

This research received no funding.

Author Contributions

All authors contributed significantly to the work and approve its publication.

Ethics Declaration

This article does not involve any human or animal subjects, and therefore does not require ethics approval.

Acknowledgements

We would like to express our gratitude to the patients, their families, and all those who have contributed to this study.

Conflicts of Interest

No conflicts of interest in this work.

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Cite this article

Karuna Mandal Yadav, Nisha Kumari. Prenatal Diagnosis of Costello Syndrome: A Case Report. Indian J Matern Fetal Neonatal Med. 2026; 13(1): 19-23.

Licence:

Attribution-Non-commercial 4.0 International (CC BY-NC 4.0)

This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator

Received Accepted Published
December 09, 2025 January 24, 2026 June 30, 2026
DOI: https://doi.org/10.21088/ijmfnm.2347.999X.13126.3

Keywords

Costello SyndromeRASopathyPrenatal DiagnosisHRASWhole Exome SequencingNon-immune HydropsTalipes

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Timeline

Received December 09, 2025
Accepted January 24, 2026
Published June 30, 2026

licence

Attribution-Non-commercial 4.0 International (CC BY-NC 4.0)

This license enables reusers to distribute, remix, adapt, and build upon the material in any medium or format for noncommercial purposes only, and only so long as attribution is given to the creator


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