遗传性疾病及其与早期早产婴儿的发病率和死亡率的关联对于妊娠年龄的婴儿来说很小
Miles Bomback1, Selin Everett2, Alex Lyford3
1Feinberg School of Medicine, Northwestern University, Chicago, IL.
American journal of obstetrics and gynecology
|September 25, 2024
概括
遗传性疾病在较早早产的婴儿中更常见,这些婴儿对于妊娠年龄来说很小,特别是那些有先天性异常的婴儿. 这些疾病会增加患病率和死亡率的风险,主要是由于三位症13,18和21.
科学领域:
- 新生儿-产前医学 新生儿-产前医学
- 医学遗传学 医学遗传学
- 儿童心脏病学 儿童心脏病学
背景情况:
- 早期早产婴儿 (<34周妊娠期) 对于妊娠年龄 (SGA) 较小的婴儿面临高的发病率和死亡率.
- 根本原因,特别是遗传性疾病,尚不清楚,关于其流行率和影响的数据有限.
- 遗传条件越来越多地被认为是导致这种脆弱人群不良结果的因素.
研究的目的:
- 确定早期早产SGA婴儿中遗传疾病的患病率,有或没有先天性异常.
- 为了比较SGA婴儿中遗传疾病的患病率与适合妊娠年龄 (AGA) 的早期早产婴儿.
- 调查遗传疾病与早产SGA婴儿的发病率或死亡率之间的关联.
主要方法:
- 从2000年到2020年,对223,431名早产早产婴儿 (怀孕23至33周) 的回顾性队列研究.
- 数据包括诊断的遗传疾病,先天性异常,基线特征和发病/死亡结果.
- 排除标准:在新生儿重症监护室入院之前在医院死亡,多胎妊娠和转移.
主要成果:
- 在没有异常的SGA婴儿中,2.3%的SGA婴儿发现了遗传障碍,10.8%的异常,4.5%的患病/死亡率.
- 三胞体13,18和21是最常见的遗传性疾病.
- 遗传性疾病显著增加了SGA (aOR 2.10) 和具有先天性异常的SGA (aOR 12.84) 的几率,并与发病/死亡率相关 (aOR 2.24).
结论:
- 在早期早产SGA婴儿中,遗传性疾病更为普遍,特别是那些具有先天性异常的婴儿.
- 遗传性疾病与这一群体的发病率和死亡率的增加有显著的关联.
- 这些发现支持SGA婴儿的基因测试,并与不断变化的临床指南保持一致,尽管需要进一步的全基因组研究.
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