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

Abstract 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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Zhiying Zhang, Chunying Ren, Yuhui Wang, Jia Peng, Yuanhang Zhu, Yueli Wu, Chongyang Zhu, Xueyin Cui, Yaming Liu, Jian Zhao, Kenny A. Rodriguez-Wallberg, Ling Liu
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-05-01
Schriftenreihe:Reproductive Biology and Endocrinology
Schlagworte:
Chromosomal abnormalities
CNV-seq
STR genotyping
Triploidy
Miscarriage
Online-Zugang:https://doi.org/10.1186/s12958-026-01570-9
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