持续的无法解释或失败的产前无细胞DNA查表明高风险的怀孕,并与干扰cfDNA分析的生物学因素有关:前性队列研究
L Lannoo1,2, K Van Den Bogaert3,4, A Belmans5
1Department of Obstetrics and Gynaecology, University Hospitals Leuven, Leuven, Belgium.
Prenatal diagnosis
|March 21, 2025
概括
在怀孕期间持续的不可解释的无细胞DNA (cfDNA) 查,通常是由于胎儿分数 (LFF) 较低,表明不良结果的风险增加. 重复cfDNA测试可以澄清结果,并指导高风险怀孕的决策.
科学领域:
- 产科和妇科 产科和妇科
- 遗传学 是一个遗传学.
- 围产儿医学 围产儿医学
背景情况:
- 持续无法解释的产前无细胞DNA (cfDNA) 查结果在怀孕管理方面构成了挑战.
- 导致无法解释结果的因素包括低质量得分 (LQS) 和低胎儿分数 (LFF).
- 了解相关的母亲特征和围产期结果对于风险评估至关重要.
研究的目的:
- 为了调查孕妇的特征,潜在因素和孕期结果,怀孕期间持续进行不可解释的产前cfDNA查.
- 在这些情况下,评估重复cfDNA查和母体自身免疫查的有用性.
- 确定在怀孕期间有初始无法解释的cfDNA结果时进行知情决策的策略.
主要方法:
- 对123例怀孕未能解释cfDNA查结果的回顾性分析 (2020年12月至2022年12月).
- 将无法解释的结果分类为LQS或LFF.
- 在特定情况下,进行母体自身免疫查和第三次cfDNA查 (24周).
- 对母亲特征和围产期结果的分析.
主要成果:
- 68%的无法解释的结果是由于LFF,32%是由于LQS.
- 在这个群体中,肥胖和自身免疫性疾病的比例过高.
- 第三次cfDNA查在77.1%的病例中提供了信息,特别是在LFF组 (87.8%).
- 母亲自身免疫查发现2.4%的抗脂抗体三重阳性.
- 在69.9%的患者中,发生了不良周产期结局,LFF组的发病率更高.
结论:
- 持续的不可解释的产前cfDNA查与更高的不良产周结局风险有关,特别是在LFF.
- 建议进行母体自身免疫查,以确定高风险怀孕.
- 第三种cfDNA查可以帮助分层风险,并为诊断测试决策提供信息.
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