通过染色体微阵列分析对染色体异常的产前诊断以及多水症胎儿的妊娠结果
Yanyan Liu1,2, Ting Hu1,2, Yanping Qian1,2
1Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
概括
染色体微阵列分析 (CMA) 对非孤立的多水病例有益. 在低风险怀孕中,孤立的多水有良好的预后,CMA可能不需要.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 是一个遗传学.
- 产科 产科 产科 产科 产科
背景情况:
- 多水,过多的胎液,可以表明胎儿的异常.
- 产前诊断的目的是识别胎儿的条件,以进行适当的管理.
- 染色体微阵列分析 (CMA) 检测出染色体异常.
研究的目的:
- 评估CMA在怀孕中具有多水症的临床效用.
- 评估被诊断患有多水症的胎儿的短期和长期预后.
主要方法:
- 追溯研究600个单独怀孕与持久的多水 (2014-2020).
- 所有病例都经历了羊水切割和CMA.
- 病例被分类为孤立的多水或非孤立的多水 (具有标记/异常).
- 胎儿的结果被跟踪了6个月到5年.
主要成果:
- 在非隔离的与隔离的多水症 (5.0%对1.5%和3.6%对0.8%) 中,体积和副本数变异的检测率更高.
- 染色体异常在结构异常组与孤立组 (10.0%与2.3%) 中显著高.
- 具有结构异常的CMA阴性病例的结果 (终止,死亡,非神经发育障碍) 比孤立的多水症更糟糕.
结论:
- 建议CMA用于有结构异常和多水瘤的胎儿.
- 在低风险怀孕中,对于孤立的多水瘤,侵入性产前诊断可能是不必要的.
- 孤立的多水症有良好的预后;不良结果与同时发生的结构异常有关.
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