在COL3A1中存在不确定的变异的产后表现:一个病例报告
Fatima Zohra Khamissi1, Catherine Bachur1, Anna Palatnik1
1Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
American journal of perinatology
|October 31, 2025
概括
怀疑患有血管埃勒斯-丹洛斯综合征 (vEDS) 和不确定的意义 (VUS) 变异的患者的怀孕管理具有挑战性. 这一案例凸显了需要多学科护理,先进的成像和仔细的基因解释来减轻风险的必要性.
科学领域:
- 遗传学 遗传学 是一个
- 血管医学 血管医学
- 产科 产科 产科 产科 产科
背景情况:
- 血管埃勒斯-丹洛斯综合征 (vEDS) 在怀孕期间存在重大风险,对于不确定的意义 (VUS) 变异的管理指南尚不清楚.
- 一名39岁的患者有家族史表明vEDS经历了分娩后并发症,包括一个后皮质血瘤和股骨伪动脉瘤,经过无并发症的分娩.
研究的目的:
- 为了说明辅导和管理怀孕的复杂性,怀疑有vEDS和VUS的个人.
- 强调风险减轻,多学科合作和精确的遗传结果解释的重要性.
主要方法:
- 一个患者的病例报告怀疑vEDS和VUS在COL3A1.1.
- 对管理策略的审查,包括风险分层成像和结构化遗传咨询.
- 通过在数据库中报告怀孕表型来讨论变异重新分类.
主要成果:
- 患者在分娩后出现了显著的血管并发症,尽管最初的分娩没有任何并发症.
- 基因检测发现了COL3A1 (c.1297G>A [p.Glu433Lys]) 中的异构体VUS.
- 该案强调了管理与VUS相关的不确定性在vEDS.的挑战.
结论:
- 怀疑有VUS的vEDS的怀孕管理需要一个系统的方法,整合全身血管成像和多学科专业知识.
- 报告与VUS相关的妊娠表型对于变体重新分类和改善患者咨询至关重要.
- 针对已知的和未知的结构化咨询对于高风险怀孕的知情决策至关重要.
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