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Article

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.

BMC pregnancy and childbirth - 1 Sept 2025

Chang Jiazhen, Li Mengmeng, Jiang Yulin, Zhou Xiya, Hao Na, Yu Yiqing, Lü Yan, Qi Qingwei

Abstract excerpt

BACKGROUND: The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism. METHODS: Thirty-four prenatal samples with chromosomal mosaicism diagnosed by chromosomal microarray analysis with single nucleotide polymorphism (CMA/SNP) were included and subsequently...

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Chromosome Disorders
In Situ Hybridization, Fluorescence
Karyotyping
Microarray Analysis
Mosaicism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pregnancy Outcome

Prenatal Diagnosis

Whole Genome Sequencing

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Identifiers

PMID: 40890635
DOI: 10.1186/s12884-025-08018-9
PMCID: PMC12403500

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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