Congenital diaphragmatic hernia future or investigational therapies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S

Overview

Many advances have been made to detect or treat CDH earlier than before. These include fetal endoscopic tracheal occlusion, ventilation, in depth studies using chromosome microarray analysis and continued genetic counselling.

Fetal endoscopic tracheal occlusion: leads to retention of fluid and resultant lung distention; primarily reserved for high risk fetuses with isolated CDH. Performed by fetal endoscopic balloon placement in the second trimester in cases where observed/expected lung-area to head-circumference ratios are ≤1.0^[1]
Gentle ventilation to prevent mechanical ventilation induced pulmonary injury^[2]
Genomic analysis with the use of chromosome microarray analysis
Continued genetic counselling in detail

↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". ( ): . PMID 20301533.
↑ Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L; et al. (2017). "Congenital diaphragmatic hernias: from genes to mechanisms to therapies". Dis Model Mech. 10 (8): 955–970. doi:10.1242/dmm.028365. PMC 5560060. PMID 28768736.