Antenatal Assessment of the Prognosis of Congenital Diaphragmatic Hernia: Ethical Considerations and Impact for the Management

Abstract

Congenital diaphragmatic hernia (CDH) is associated with abnormal pulmonary development, which is responsible for pulmonary hypoplasia with structural and functional abnormalities in pulmonary circulation, leading to the failure of the cardiorespiratory adaptation at birth. Despite improvement in treatment options and advances in neonatal care, mortality remains high, at close to 15 to 30%. Several risk factors of mortality and morbidities have been validated in fetuses with CDH. Antenatal assessment of lung volume is a reliable way to predict the severity of CDH. The two most commonly used measurements are the observed/expected lung to head ratio (LHRo/e) and the total pulmonary volume (TPV) on MRI. The estimation of total pulmonary volume (TPVo/e) by means of prenatal MRI remains the gold standard. In addition to LHR and TPV measurements, the position of the liver (up, in the thorax or down, in the abdomen) also plays a role in the prognostic evaluation. This prenatal prognostic evaluation can be used to select fetuses for antenatal surgery, consisting of fetoscopic endoluminal tracheal occlusion (FETO). The antenatal criteria of severe CDH with an ascended liver (LHRo/e or TPVo/e < 25%) are undoubtedly associated with a high risk of death or significant morbidity. However, despite the possibility of estimating the risk in antenatal care, it is difficult to determine what is in the child’s best interest, as there still are many uncertainties: (1) uncertainty about individual short-term prognosis; (2) uncertainty about long-term prognosis; and (3) uncertainty about the subsequent quality of life, especially when it is known that, with a similar degree of disability, a child’s quality of life varies from poor to good depending on multiple factors, including family support. Nevertheless, as the LHR decreases, the foreseeable “burden” becomes increasingly significant, and the expected benefit is increasingly unlikely. The legal and moral principle of the proportionality of medical procedures, as well as the prohibition of “unreasonable obstinacy” in all investigations or treatments undertaken, is necessary in these situations. However, the scientific and rational basis for assessing the long-term individual prognosis is limited to statistical data that do not adequately reflect individual risk. The risk of self-fulfilling prophecies should be kept in mind. The information given to parents must take this uncertainty into account when deciding on the treatment plan after birth.