在被诊断为血管环的胎儿中的当代结果
Ian Milligan1,2, William Border3,4, Ritu Sachdeva3,4
1Emory University, Atlanta, GA, USA. ian.l.milligan@gmail.com.
Pediatric cardiology
|June 24, 2023
概括
胎儿心声学越来越多地检测出血管环. 许多婴儿在婴儿期早期或晚期出现症状,遗传检测通常呈阳性,表明需要增加查.
科学领域:
- 心脏病学 心脏病学
- 儿科手术 儿科手术
- 医疗成像医学成像
背景情况:
- 血管环是一种先天性异常,越来越多地通过胎儿心声学在产前诊断.
- 这些异常会导致婴儿出现显著的呼吸道和胃食道症状.
- 了解临床结果和诊断模式对于有效的管理至关重要.
研究的目的:
- 为了分析被诊断为血管环的胎儿的临床结果.
- 评估这个群体的诊断和遗传测试模式.
- 评估症状表现和手术干预的时间和性质.
主要方法:
- 对46名出生后确诊血管环的胎儿进行了回顾性队列研究 (2017-2022年).
- 分析临床结果,包括症状,手术时间和不需要干预的情况.
- 评估诊断测试 (成像,支气管镜检查) 和遗传测试的频率和产量.
主要成果:
- 血管环的产前诊断随着时间的推移而增加.
- 血管环在59%的病例中被分离出来,而其他病例与心脏或非心脏异常有关.
- 24%的婴儿出现症状,在出生100天前或出生400天后呈现双模式;17%的婴儿需要手术.
- 在33%的患者中,基因检测呈阳性 (22q11删除,三体变异21),但仅在46%的患者中获得阳性.
结论:
- 血管环的产前诊断正在上升,症状发作发生在婴儿早期或晚期.
- 很大一部分患者有相关的遗传异常,这表明基因检测应该更频繁.
- 优化诊断和遗传工作对于管理产前诊断血管环的婴儿至关重要.
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