Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study.

ABSTRACT:

Background

To evaluate the application of targeted amplicon sequencing (TA-seq)-a method based on multiplex PCR and high-throughput sequencing-for the prenatal detection of uniparental disomy (UPD)-related imprinting disorders (ImpDis).

Methods

This retrospective study included 370 samples suspected of UPD from 42 hospitals across China. Of these, 294 samples were successfully tested by TA-seq, and methylation multiplex ligation-dependent probe amplification (MS-MLPA) being regarded as the reference method for methylation-based detection of imprinting disorders.

Results

TA-seq identified 36 positives and 258 negatives, of which 30 positives and 255 negatives were consistent with the findings from MS-MLPA. The sensitivity, specificity, positive predictive value, and ne

SUBMITTER: Liu N 

PROVIDER: S-EPMC12607192 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature