22q11.2 通过辅助生殖技术怀孕的后代与自发发育的后代的删除综合征
Jennifer Borowka1,2,3, Terrence Blaine Crowley2,3, Ashika Mani1
1Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Genes
|January 28, 2026
概括
与一般人群相比,在22q11.2删除综合征 (22q11.2DS) 的怀孕中使用辅助生殖技术 (ART) 没有增加患病率或不良周产期结局. 在这种情况下,非基同源重组 (NAHR) 与ART无关.
科学领域:
- 遗传学 是一个遗传学.
- 生殖医学 生殖医学
- 儿科 儿科 儿科
背景情况:
- 染色体22q11.2的缺失,通常是de novo,来自非基同源重组 (NAHR).
- 虽然已知22q11.2删除综合征 (22q11.2DS) 现型,但包括辅助生殖技术 (ART) 在内的NAHR风险因素尚不清楚.
研究的目的:
- 在22q11.2DS.DS.患者中调查ART怀孕的患病率.
- 为了比较ART怀孕和自发怀孕 (SC) 患者与22q11.2DS之间的医学并发症和围产期结局.
主要方法:
- 对1184名患者的回顾性分析,确认了de novo22q11.2删除.
- 包括体外受精 (IVF) 在内的ART怀孕,有或没有细胞内质精子注射 (ICSI).
- 检查删除大小,产科,家庭和医疗史.
主要成果:
- 在22q11.2DS患者中,ART受孕率 (2.57%) 与美国一般人口的比率 (2.3%) 类似.
- 在ART和SC组之间没有明显的缺失大小或围产期结局 (早产,先天性心脏病) 的差异.
- 接受ART治疗的新生儿更有可能需要接受ICU治疗 (aOR = 6.3).
结论:
- 导致22q11.2DS的ART怀孕的患病率和围产期结局与一般人群相似.
- 非基同源重组 (NAHR) 与22q11.2DS.个体的ART无关.
- 这些发现为通过ART怀孕的家庭提供了保证,这些家庭的孩子被诊断为22q11.2DS.
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