ORIGINAL RESEARCH article

Front. Med.

Sec. Obstetrics and Gynecology

Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of Fetal Growth Restriction

  • Wenzhou Central Hospital, Wenzhou, China

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Abstract

Objective: To explore the application value of prenatal trio whole-exome sequencing (Trio-WES) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in fetal growth restriction( FGR). Methods: The clinical data of 66 cases of FGR in fetuses who underwent interventional prenatal diagnosis at Wenzhou Central Hospital from January 2022 to July 2025 were retrospectively collected. All fetuses had undergone chromosomal karyotype and CMA tests with negative results, and then Trio-WES was performed. Among the 21 cases with negative Trio-WES results, MS-MLPA testing was further conducted.The χ2 test was used to analyze the abnormal rates of FGR across different groups.Results: In 66 cases of FGR,Trio-WES could detect an additional 42.42% (28/66) of the abnormalities, among which LP/P was 27.27% (18/66). MS-MLPA detected 2 cases of abnormal methylation, with an abnormality rate of 9.52% (2/21). Conclusion: Trio-WES and MS-MLPA can improve the detection rate of genetic abnormalities in FGR. Trio-WES and MS-MLPA are recommended as further testing methods for FGR cases with negative CMA results.

Summary

Keywords

fetal growth restriction, Genetic etiology, MS-MLPA, Prenatal Diagnosis, Trio-WES

Received

06 November 2025

Accepted

03 April 2026

Copyright

© 2026 Chen, cai, wu, zeng and zhou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

*Correspondence: Yangping Chen

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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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