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Updated: Jan 13, 2026

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在10,537例怀孕中,病原性或可能病原性拷贝数变异的患病率和表型发现

Shiwei Ren1, Wenjing Gu2, Ting Liu2

  • 1School of Clinical Medicine, Jining Medical University, Jining, Shandong, China.

PloS one
|October 28, 2025
PubMed
概括

染色体微阵列分析 (CMA) 在检测高风险怀孕中致病拷贝数变异 (p/lpCNVs) 方面优于型分析. 这些变异与出生缺陷有关,在涉及辅助生殖技术 (ART) 和多水症的怀孕中发病率更高.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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