Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia (CDH) can be associated with genetic or structural anomalies with poor prognosis. In isolated cases, survival is dependent on the degree of lung hypoplasia and liver position. Cases should be referred in utero to tertiary care centers familiar with this condition both for prediction of outcome as well as timed delivery. The best validated prognostic indicator is the lung area to head circumference ratio. Ultrasound is used to measure the lung area of the index case, which is then expressed as a proportion of what is expected normally (observed/expected LHR). When O/E LHR is <25% survival chances are <15%. Prenatal intervention, aiming to stimulate lung growth, can be achieved by temporary fetal endoscopic tracheal occlusion (FETO). A balloon is percutaneously inserted into the trachea at 26-28 weeks, and reversal of occlusion is planned at 34 weeks. Growing experience has demonstrated the feasibility and safety of the technique with a survival rate of about 50%. The lung response to, and outcome after FETO, is dependent on pre-existing lung size as well gestational age at birth. Early data show that FETO does not increase morbidity in survivors, when compared to historical controls. Several trials are currently under design.

Congenital diaphramatic hernia outcomes in East Africa: The Ethiopian experience

“…CDH diagnostic index in the antenatal period has markedly increased, so that in many high resource countries, most cases are diagnosed during prenatal ultrasound screening (11) . None of our patients were diagnosed prenatally.…”

Congenital Diaphragmatic Hernia and Congenital Heart Disease

“…(Done, Gucciardo et al 2008) Previously the outcome of fetuses with prenatally diagnosed CDH was thought to be poor, (Adzick, Vacanti et al 1989) however as many cases are now diagnosed antenatally, prenatal diagnosis can no longer be considered a useful predictor of poor outcome.…”

“…(Done, Gucciardo et al 2008) As the survival rates continue to improve survivors are noted to have a higher incidence of respiratory, nutritional, musculoskeletal, neurological and gastrointestinal morbidities. (Chiu and Hedrick 2008) With newer treatments such as pre and post surgery ECMO survival rates of infants with CDH continue to improve.…”

Horizontal stomach: a new sonographic clue to the antenatal diagnosis of right‐sided congenital diaphragmatic hernia

“…The latter seems to be explained by a number of factors, including the similar sonographic appearance of the liver and lung, the lack of associated dextrocardia and, more importantly, the absence of intrathoracic herniation of the stomach, an important sonographic marker for left-sided CDH 2,5 . Contrary to the perinatal outcome of left-sided CDH, the lack of intrathoracic stomach and bowel herniation typically seen in right-sided CDH does not confer a better prognosis 5 .…”

“…In the second case, a 32-year-old woman, gravida 2 para 1, was referred to Bologna University Hospital at 24 weeks' gestation after amniocentesis revealed a mosaic karyotype (46,XY[8]/46,XX [3]/45,X [2]). On ultrasound, hypospadias was suspected and a horizontal orientation of the fetal stomach was also noted ( Figure 2) in an otherwise normal male fetus.…”