Deprest Jan, Brady Paul, Nicolaides Kypros, Benachi Alexandra, Berg Christoph, Vermeesch Joris, Gardener Glenn, Gratacos Eduard
Department of Obstetrics and Gynaecology, University Hospitals Leuven, and Academic Department of Development and Regeneration, Organ System Cluster, Leuven, Belgium; TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial).
Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Semin Fetal Neonatal Med. 2014 Dec;19(6):338-48. doi: 10.1016/j.siny.2014.09.006. Epub 2014 Nov 11.
Congenital diaphragmatic hernia (CDH) may be isolated or associated with other structural anomalies, the latter with poor prognosis. The defect allows viscera to herniate through the defect into the chest, competing for space with the developing lungs. At birth, pulmonary hypoplasia leads to respiratory insufficiency and persistent pulmonary hypertension that is lethal in up to 30% of patients. When isolated, survival chances can be predicted by antenatal measurement of lung size and liver herniation. Chromosomal microarrays and exome sequencing contribute to understanding genetic factors underlying isolated CDH. Prenatal intervention aims at stimulating lung development, clinically achieved by percutaneous fetal endoscopic tracheal occlusion (FETO) under local anesthesia. The Tracheal Occlusion To Accelerate Lung growth trial (www.totaltrial.eu) is an international randomized trial investigating the role of fetal therapy for severe and moderate pulmonary hypoplasia. Despite an apparent increase in survival following FETO, the search for lesser invasive and more potent prenatal interventions must continue.
先天性膈疝（CDH）可能是孤立性的，也可能与其他结构异常相关，后者预后较差。该缺损使得内脏通过缺损处疝入胸腔，与发育中的肺争夺空间。出生时，肺发育不全导致呼吸功能不全和持续性肺动脉高压，高达30%的患者因此致死。当为孤立性时，可通过产前测量肺大小和肝脏疝入情况来预测生存几率。染色体微阵列和外显子组测序有助于了解孤立性CDH的潜在遗传因素。产前干预旨在刺激肺发育，临床上可通过局部麻醉下的经皮胎儿内镜气管阻塞术（FETO）来实现。气管阻塞促进肺生长试验（www.totaltrial.eu）是一项国际随机试验，研究胎儿治疗对重度和中度肺发育不全的作用。尽管FETO术后生存率明显提高，但仍须继续寻找侵入性更小、效果更强的产前干预措施。
