Current and future antenatal management of isolated congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia is surgically correctable, yet the poor lung development determines mortality and morbidity. In isolated cases the outcome may be predicted prenatally by medical imaging. Cases with a poor prognosis could be treated before birth. However, prenatal modulation of lung development remains experimental. Fetoscopic endoluminal tracheal occlusion triggers lung growth and is currently being evaluated in a global clinical trial. Prenatal transplacental sildenafil administration may in due course be a therapeutic approach, reducing the occurrence of persistent pulmonary hypertension, either alone or in combination with fetal surgery.

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

“…Patient stratification and corresponding survival rates according to prenatal ultrasound parameters: expected lung‐to‐head ratio (o/e LHR) and liver herniation for both left‐sided and right‐sided congenital diaphragmatic hernia (CDH) (A) and stomach position grading for left‐sided CDH (B). Adapted from Russo et al and Cordier at al…”

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

“…To stimulate lung growth and maturation, isolated severe and moderate CDH cases without a pathogenic genetic anomaly are offered fetal endoscopic tracheal occlusion (FETO) . However, the overall survival rate of this technique does not exceed 49% . Aside from numerous FETO side‐effects, a subset of these patients may have a poor outcome because of an underlying genetic lesion.…”

“…2 However, the overall survival rate of this technique does not exceed 49%. 3 Aside from numerous FETO side-effects, a subset of these patients may have a poor outcome because of an underlying genetic lesion. It is therefore important to make a genetic diagnosis where possible and to increase our understanding of the underlying genetic causes of CDH in order to offer a better informed decision for possible therapies.…”

Low postnatal CRI values are associated with the need for ECMO in newborns with CDH

“…Approximately 30% of newborns with a CDH require extracorporeal membrane oxygenation (ECMO) for postnatal cardiopulmonary support [2]. Various prognostic and risk stratification schemes, which rely on prenatal imaging, genetics, or postnatal factors, have improved the ability of clinicians to predict the likelihood of a newborn requiring ECMO and its overall mortality [1][2][3][4][5][6][7][8][9]. Once the newborn is delivered, however, the utility of these Journal of Pediatric Surgery 55 (2020) 39-44 ☆☆☆ How this paper will improve care: Humans, from newborns to adults, share features of the pulsatile waveform that are associated with progression to decompensation.…”