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
- YC
Yangping Chen
- XC
xiaohe cai
- XW
xiuxiu wu
- JZ
jiangzong zeng
- LZ
lili zhou
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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