Since 2000, more than 400 000 babies worldwide have died of congenital diaphragmatic hernia (CDH), a condition that is occurring as frequently as cystic fibrosis and characterised by underdeveloped lungs (pulmonary hypoplasia), persistent pulmonary hypertension and a diaphragmatic defect [1]. CDH can be diagnosed prenatally with ultrasound and fetal MRI, but outcome prediction and diagnostic accuracy remain imperfect [2]. The observed over expected lung-to-head (O/E LHR) ratio at 22–23 and 32–33 weeks of gestation is currently used to predict CDH outcomes [3]. A prenatal biomarker for the assessment of disease severity and prognostication has not been established yet. In contrast to cystic fibrosis, a common genetic cause has not been identified for CDH, suggesting that epigenetic and environmental factors are involved in the pathogenesis. We have previously discovered that microRNA 200b (miR-200b) is highly dysregulated in hypoplastic human CDH lungs and that miR-200b administration can serve as a prenatal therapy in an animal model for CDH [4, 5]. Circular RNAs are dysregulated in lungs of congenital diaphragmatic hernia patients, a malformation of the lung and diaphragm. These results suggest that they can serve as prenatal biomarkers to improve prognostication and diagnostic accuracy. http://bit.ly/2Cz7Bzm

中文翻译：

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环状 RNA 可以用作先天性膈疝的产前生物标志物吗？

自 2000 年以来，全世界有超过 40 万婴儿死于先天性膈疝 (CDH)，这种疾病与囊性纤维化一样常见，其特征是肺发育不全（肺发育不良）、持续性肺动脉高压和膈肌缺损 [1]。CDH 可以通过超声和​​胎儿 MRI 进行产前诊断，但结果预测和诊断准确性仍然不完善 [2]。在妊娠 22-23 周和 32-33 周观察到的超预期肺-头 (O/E LHR) 比值目前用于预测 CDH 结果 [3]。尚未建立用于评估疾病严重程度和预后的产前生物标志物。与囊性纤维化相反，CDH 的常见遗传原因尚未确定，这表明表观遗传和环境因素参与了发病机制。我们之前已经发现 microRNA 200b (miR-200b) 在发育不良的人类 CDH 肺中高度失调，并且在 CDH 动物模型中施用 miR-200b 可以作为产前治疗 [4, 5]。先天性膈疝患者的肺中环状 RNA 失调，这是肺和膈肌的畸形。这些结果表明它们可以作为产前生物标志物来提高预测和诊断的准确性。http://bit.ly/2Cz7Bzm 这些结果表明它们可以作为产前生物标志物来提高预测和诊断的准确性。http://bit.ly/2Cz7Bzm 这些结果表明它们可以作为产前生物标志物来提高预测和诊断的准确性。http://bit.ly/2Cz7Bzm