患有单边或双边肺溢的胎儿存在遗传异常的风险
Brian Burnett1, Christian Parobek1,2, Matthew Shanahan1,2
1Department of Obstetrics and Gynecology, Baylor College of Medicine and Texas Children's Fetal Center, Houston, Texas, USA.
Prenatal diagnosis
|September 5, 2024
概括
胎儿多流液往往表明遗传问题. 综合性产前遗传检测对于单边和双边排泄都至关重要,因为它们揭示了显著的遗传异常并影响了产前结果.
科学领域:
- 周围生理学 周围生理学
- 医学遗传学 医学遗传学
- 胎儿医学 胎儿医学
背景情况:
- 胎儿外泄 (FPE) 可能与遗传原因有关,但发病率数据很少.
- 了解遗传病因对于管理FPE至关重要.
研究的目的:
- 为了确定单独怀孕中基因异常的比率,具有初级单边或双边FPE.
- 为了比较单边和双边FPE之间的遗传诊断和围产期结果.
主要方法:
- 追溯对象研究30个单子怀孕与初级FPE (2010-2022).
- 患者在诊断时按单边或双边输液进行分类.
- 对遗传诊断,胎儿干预和怀孕结果的分析.
主要成果:
- 50%的单边FPE和14%的双边FPE (p=0.046) 中发现了遗传异常.
- 双边输出显示出更高的胸膜突干预率 (69%vs. 14%) 和更早的分娩 (33vs. 36周).
- 双边FPE与增加的呼吸困扰综合征和新生儿死亡有关.
结论:
- 主要FPE经常与遗传异常有关.
- 虽然双边FPE具有较差的围产期结果,但单边FPE也具有较高的基因诊断率.
- 建议对所有FPE进行全面的产前遗传测试.
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