在一个正常遗传特征的胎儿中VACTERL协会
Sneha Jawalkar1, Aarushi Goswami1, Neelamma Patil2
1Pathology and Laboratory Medicine, Shri B.M. Patil Medical College, Hospital & Research Centre, BLDE (Deemed to be University), Vijayapura, IND.
Cureus
|September 2, 2024
概括
这个案例突出了VACTERL关联,一种涉及多个器官异常的疾病. 胎儿尸检证实了产前VACTERL诊断,强调了它对准确诊断和遗传咨询的重要性.
科学领域:
- 医学遗传学 医学遗传学
- 发展生物学 发展生物学
- 临床病理学 临床病理学
背景情况:
- VACTERL关联是一种复杂的疾病,其特点是脊椎,门,心脏,气管,食道,脏和四肢发育的异常.
- 诊断需要至少三个器官系统的异常,没有其他可识别的形模式.
研究的目的:
- 要呈现一个在产前诊断的VACTERL关联病例.
- 强调胎儿尸检在确认诊断和识别特定形方面的作用.
主要方法:
- 在怀孕13周和21周进行产前超声波检查.
- 胚胎液的染色体微阵列分析.
- 胎儿尸检包括粗体检查,心血管评估和骨放射 (胎儿图).
主要成果:
- 产前扫描显示脊柱短,单一的流出通道,增加的额半透明度,脊椎病,半脊椎,法洛四重律,和单一的动脉.
- 染色体微阵列显示没有基因组失衡.
- 胎儿尸检证实了Fallot的四重症,脊椎异常 (蝶脊椎,半脊椎),四肢异常 (脚,多爪症) 和两个血管的带.
结论:
- 胎儿尸检对于确认VACTERL协会的产前诊断和详细说明特定异常至关重要.
- 准确的诊断有助于遗传咨询,特别是对于重复的妊娠损失.
- 这一案例强调了复杂的先天性形综合征综合性评估的实用性.
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