title: Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial.
abstract: 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.
authors.affiliation: 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). Electronic address: Jan.Deprest@uzleuven.be.
authors.forename: Jan
authors.initials: J
authors.lastname: Deprest
authors.affiliation: Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Paul
authors.initials: P
authors.lastname: Brady
authors.affiliation: TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial); Harris Birthright Centre, King's College Hospital, London, UK.
authors.forename: Kypros
authors.initials: K
authors.lastname: Nicolaides
authors.affiliation: TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial); Department of Obstetrics, Gynaecology and Reproductive Medicine, Hôpital Antoine Beclere, University Paris Sud, Clamart, France.
authors.forename: Alexandra
authors.initials: A
authors.lastname: Benachi
authors.affiliation: TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial); Division of Fetal Surgery, Department of Obstetrics and Prenatal Medicine, University of Bonn, and Department of Obstetrics and Gynecology, University of Cologne, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Berg
authors.affiliation: Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.affiliation: Mater Health Services, Mater Research UQ, Brisbane, Australia.
authors.forename: Glenn
authors.initials: G
authors.lastname: Gardener
authors.affiliation: TOTAL Consortium (Tracheal Occlusion To Accelerate Lung Growth Trial); BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Gratacos
mesh_terms: D019468:Disease Management; D005260:Female; D005332:Fetoscopy; D005333:Fetus / Q000601:surgery*; D065630:Hernias, Diaphragmatic, Congenital / Q000175:diagnosis / Q000601:surgery*; D006801:Humans; D008168:Lung / Q000002:abnormalities*; D011247:Pregnancy; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal
keywords: Chromosomal microarrays; Congenital diaphragmatic hernia; Exome sequencing; Fetal surgery; Pulmonary hypoplasia; Tracheal occlusion