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Chapter 19.2 - Congenital diaphragmatic hernia

clinical antenatal management

from Section 2 - Fetal disease

Published online by Cambridge University Press:  05 February 2013

By
Jan Deprest ,
Jaan Toelen ,
Philip De Koninck ,
Jute Richter ,
Alexander Engels ,
Paul Brady ,
Kypros Nicolaides ,
Eduard Gratacos ,
Filip Claus  and
Dick Tibboel
...Show all authors
Edited by
Mark D. Kilby ,
Anthony Johnson  and
Dick Oepkes
Mark D. Kilby
Affiliation:
Department of Fetal Medicine, University of Birmingham
Anthony Johnson
Affiliation:
Baylor College of Medicine, Texas
Dick Oepkes
Affiliation:
Department of Obstetrics, Leiden University Medical Center
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Summary

Introduction

Congenital diaphragmatic hernia (CDH) is a congenital birth defect which occurs in 1 in 3000 to 1 in 5000 live births [1]. This number discounts what has been called the “hidden mortality,” i.e., stillbirths or neonatal deaths before transfer to a tertiary care center. Probably a more accurate estimate incidence of CDH is 1 in 2200 live births [2, 3]. Based on 5 420 900 live births in the European Union (EU-27) counted by Eurostat (2008), this means in absolute numbers at least every 4 hours one new case is born alive! According to a meta-analysis, up to 40% of cases have associated problems [4]. These can occur in the absence or presence of identified syndromes or other genetic problems. The presence of other anomalies is an independent predictor of neonatal death. The majority thus are apparently isolated and they are the actual subject of this contribution. The introduction of maternal ultrasound screening programs today lead to prenatal diagnosis in about two out of three cases, hence prenatal management options [5].

Herein we will discuss CDH from a perspective of antenatal management, including fetal intervention. Fetal surgery is only contemplated when five conditions are present, as defined by the International Fetal Medicine and Surgery Society (IFMSS) [6] (Table 19.2.1). We will discuss how this applies to CDH. We first summarize actual survival rates when this condition is managed after birth, essentially showing that there is no effective postnatal therapy in a subset of fetuses. In other words, the natural history of CDH has been identified (condition 2) and for some cases there is no effective postnatal therapy (condition 3). Key to fetal therapy is the fulfillment of condition 1, which means that there must be methods to tie the first two conditions together and have assessment methods that can predict poor outcome despite optimal postnatal care. We will summarize how such individualized prognosis can be made. Then we will summarize the experimental basis for fetal surgery (condition 4). Given all this, fetal therapy for CDH became a clinical reality. We describe the current clinical experience with fetal surgery, including the design of trials that will have to determine the place of fetal surgery (condition 5).

Keywords

MRIfetal surgeryfetal endoscopic tracheal occlusiongestational ageprenatal imagingthree-dimensional ultrasounddiffusion-weighted imagingantenatal managementcongenital diaphragmatic hernia
Type
Chapter
Information
Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
 , pp. 376 - 388
Publisher: Cambridge University Press
Print publication year: 2012

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