Blumenfeld Yair J, Belfort Michael A
Department of Obstetrics & Gynecology, Stanford University School of Medicine.
Fetal Therapy, Lucile Packard Children's Hospital Stanford, Stanford, California.
Curr Opin Obstet Gynecol. 2020 Apr;32(2):121-127. doi: 10.1097/GCO.0000000000000615.
Congenital diaphragmatic hernia (CDH) is a structural birth defect that results in significant neonatal morbidity and mortality. CDH occurs in 2-4 per 10 000 pregnancies, and despite meaningful advances in neonatal intensive care, the mortality rate in infants with isolated CDH is still 25-30%. In this review, we will present data on the molecular underpinnings of pathological lung development in CDH, prenatal diagnosis, and prognostication in CDH cases, existing fetal therapy modalities, and future directions.
Developments in the prenatal assessment and in-utero therapy of pregnancies complicated by congenital diaphragmatic hernia are rapidly evolving. Although ultrasound has been the mainstay of prenatal diagnosis, fetal MRI appears to be an increasingly important modality for severity classification. While fetal endoscopic tracheal occlusion (FETO) may have a role in the prenatal management of severe CDH cases, it is possible that future therapeutic paradigms will incorporate adjunct medical interventions with either stem cells or sildenafil in order to address the vascular effects of CDH on the developing lung.
Both animal and human data have shown that the pathophysiological underpinnings of CDH are multifactorial, and it appears that future prenatal assessments and therapies will likely be as well.
先天性膈疝（CDH）是一种结构性出生缺陷，可导致新生儿出现严重的发病率和死亡率。CDH的发生率为每10000次妊娠中有2 - 4例，尽管新生儿重症监护取得了显著进展，但孤立性CDH患儿的死亡率仍为25% - 30%。在本综述中，我们将展示有关CDH病理性肺发育的分子基础、产前诊断及预后、现有胎儿治疗方式以及未来方向的数据。
先天性膈疝合并妊娠的产前评估和宫内治疗进展迅速。虽然超声一直是产前诊断的主要手段，但胎儿磁共振成像（MRI）对于严重程度分类似乎正变得越来越重要。虽然胎儿内镜气管闭塞术（FETO）可能在严重CDH病例的产前管理中发挥作用，但未来的治疗模式可能会将干细胞或西地那非等辅助医学干预措施纳入其中，以解决CDH对发育中肺的血管影响。
动物和人类数据均表明，CDH的病理生理基础是多因素的，未来的产前评估和治疗可能也是如此。
