在胎儿的产前外测序分析与各种超声波发现
Antoni Borrell1, Elena Ordoñez2, Montse Pauta3
1Barcelona Centre for Maternal-Fetal and Neonatal Medicine (BCNatal), Hospital Clínic Barcelona, Universitat de Barcelona, 08007 Barcelona, Spain.
Journal of clinical medicine
|January 11, 2024
概括
外体测序 (ES) 在10%的怀孕中检测到常见的动脉,超声检测结果匹配染色体微阵列分析 (CMA). 将ES扩展到胎儿发育障碍基因中,发现了3.9%的单一性疾病,尽管有不相关的征兆,但临床相关.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学 是一个
- 基因组医学是一种基因组医学.
背景情况:
- 产前诊断通常依赖于超声波的发现,需要进一步的遗传检测.
- 外基组测序 (ES) 提供了一种全面的方法来检测遗传变异.
研究的目的:
- 评估外基因组测序 (ES) 以检测发育障碍基因中的全基因组复制数变异 (CNVs) 和SNVs-InDels.
- 评估ES在怀孕中具有轻微的超声波发现而没有先前的ES指示的效用.
主要方法:
- 接受入侵性产前检测的女性 (胆 ?? 囊取样或羊水切片).
- 进行ES以比较CNV检测与CMA,并识别单基性疾病.
- 用于超声指示的目标基因面板和用于发育障碍的广泛胎儿基因面板.
主要成果:
- 通过QF-PCR检测出六种 (10%) 常见的染色体形状.
- 通过CMA或针对性基因面板进行超声波指示,没有致病性CNV.
- 通过广泛的ES分析检测出两种临床相关的单一性疾病 (3.9%).
结论:
- 常见的动脉是怀孕中的主要染色体异常,超声检查结果.
- 在ES CNV分析中,显示与CMA一致.
- 对胎儿发育障碍的广泛ES分析对于识别临床相关的单一性疾病至关重要.
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