产前诊断和胎儿的妊娠结果与脊椎异常的胎儿
概括
胎儿脊椎异常 (VA) 的产前诊断需要进行基因检测,因为它可以揭示遗传风险. 孤立的VA病例显示出更好的妊娠结果,但长期监测至关重要.
科学领域:
- 产前诊断 在产前诊断
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
背景情况:
- 脊椎异常 (VA) 是一种影响脊柱的先天性疾病.
- 对患有VA的胎儿的遗传基础和妊娠结果的调查对于临床管理至关重要.
研究的目的:
- 确定与胎儿脊椎异常 (VA) 相关的遗传风险.
- 通过超声波评估被诊断为VA的胎儿的怀孕结果.
主要方法:
- 追溯审查52个胎儿的超声波检测VA (不包括神经管缺陷).
- 产前超声波扫描,遗传检测 (型,染色体微阵列分析[CMA],全外体序列测序[WES]) 和怀孕结果的分析.
- 隔离VA和非隔离VA组之间的结果比较.
主要成果:
- 确定了四种类型的VA:蝶,半脊椎,组合和块脊椎.
- 基因检测在19.2%的病例中产生了正确的诊断,识别了染色体异常和致病拷贝数变异 (CNV).
- 在孤立的VA病例中,与非孤立的VA病例 (38.9%) 相比,活产率显著更高 (71.9%).
结论:
- 建议对所有患有VA的胎儿进行侵袭性产前遗传检测,无论相关异常情况如何.
- 整体外体序列测序 (WES) 在染色体微阵列分析 (CMA) 结果为负的病例中提高了诊断产量.
- 带有负遗传检测的隔离VA胎儿可能有良好的结果,但长期跟踪是必不可少的.
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