ArticleFrontiers in medicine2026
Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: This study aimed 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 Results: In 66 cases of FGR, trio-WES could detect an additional 42.42% (28/66) of the abnormalities, among which likely pathogenic (LP)/pathogenic (P) was 27.27% (18/66). MS-MLPA detected two 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.
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