In the last three decades, gene therapy has demonstrated significant progress. Over 700 active investigational new drug (IND) applications have been reported. Research on in utero gene therapy has advanced, but ethical and safety concerns persist.
View Article and Find Full Text PDFCongenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.
View Article and Find Full Text PDFIntroduction: Unilateral congenital high airway obstruction syndrome (CHAOS) is caused by a complete obstruction of a mainstem bronchus with resulting hyperinflation and accelerated growth of one lung, severe mediastinal shift, and hydrops. Spontaneous perforation of the atresia has been observed in CHAOS which allows hydrops to resolve but hyperinflation, mediastinal shift and a critical airway obstruction persists as the perforation is usually pinhole-sized.
Case Presentation: We present a case of unilateral CHAOS presenting at 26 2/7 weeks with observed-to-expected total lung volume (O/E TLV) of 203% with spontaneous perforation occurring at 28 weeks with resolution of hydrops but persistence of hyperinflation and mediastinal shift with an O/E TLV of 60.
Objective: To report the outcomes of fetoscopic endoluminal tracheal occlusion in a multicenter North American cohort of patients with isolated, left-sided congenital diaphragmatic hernia (CDH) and to compare neonatal mortality and morbidity in patients with severe left-sided congenital diaphragmatic hernia who underwent fetoscopic endoluminal tracheal occlusion with those expectantly managed.
Methods: We analyzed data from 10 centers in the NAFTNet (North American Fetal Therapy Network) FETO (Fetoscopic Endoluminal Tracheal Occlusion) Consortium registry, collected between November 1, 2008, and December 31, 2020. In addition to reporting procedure-related surgical outcomes of fetoscopic endoluminal tracheal occlusion, we performed a comparative analysis of fetoscopic endoluminal tracheal occlusion compared with contemporaneous expectantly managed patients.
Introduction: Hepatopulmonary fusion (HPF) is a rare anomaly specifically associated with right-sided congenital diaphragmatic hernia (CDH). Fewer than 50 cases of HPF have been reported, most at the time of surgery or postmortem with an associated high morbidity and mortality rate. Prenatal diagnosis and optimal management of these rare cases have not been established.
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