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Article

Enhanced genetic diagnosis in early pregnancy loss: an integrated approach using CNV-Seq and STR genotyping.

Reproductive biology and endocrinology : RB&E - 29 May 2026

Zhang Zhiying, Ren Chunying, Wang Yuhui, Peng Jia, Zhu Yuanhang, Wu Yueli, Zhu Chongyang, Cui Xueyin, Liu Yaming, Zhao Jian, Rodriguez-Wallberg Kenny A, Liu Ling

Abstract excerpt

PURPOSE: Chromosomal abnormalities are a leading cause of early pregnancy loss (EPL). While copy number variation sequencing (CNV-seq) is gradually applied in clinical practice, its sensitivity for detecting triploidy and uniparental disomy (UPD) remains limited. This study aimed to evaluate whether integrating CNV-seq with short tandem repeat (STR) genotyping could improve diagnostic performance in EPL. METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42216025
DOI: 10.1186/s12958-026-01570-9
PMCID: PMC13307679

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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