Prenatal diagnosis of congenital diaphragmatic hernia: Timing of visceral herniation and outcome

Abstract

Ultrasonographic prenatal diagnosis of congenital diaphragmatic hernia is well established, but the correlation of prenatal detection with clinical outcome remains unclear. We report our experience with 15 cases of prenatally diagnosed congenital diaphragmatic hernia. Seven fetuses were detected at 14-16 weeks' gestation; two with a normal sonographic study at 15 and 16 weeks' gestation showed visceral herniation at 21 and 23 weeks, respectively. In the remaining six cases, a diaphragmatic hernia was found at ultrasonography after 24 weeks' gestation, while previous sonographic studies had been normal. All seven fetuses in whom a diaphragmatic hernia was diagnosed before 16 weeks' gestation were aborted; four of them had severe malformations or karyotype abnormalities. The two neonates who were diagnosed at 21 and 23 weeks' gestation died after surgical repair. In contrast, all six infants whose visceral herniation was diagnosed after 24 weeks of gestation, and whose sonographic studies at 15-23 weeks had been normal, are alive and well after corrective surgery. The results of this series suggest that the timing of visceral herniation into the thoracic cavity is a major indicator of the prognosis of these fetuses and that herniation that occurs after 25 weeks of gestation carries a favourable clinical outcome. Normal sonographic studies during the first half of pregnancy do not exclude the subsequent development of congenital diaphragmatic hernia, raising questions about the advisability of repeat examinations at later stages of gestation.

Outcome of congenital diaphragmatic hernia

“…18,62 Inclusion of all fetuses with CDH (including those with other anomalies) will have made this figure more pessimistic, as the association with other anomalies is very poor prognostically. 16,17,63,64 Many studies refer to this or exclude fetuses/babies from figures on overall survival because of this.…”

Liver Position Is a Prenatal Predictive Factor of Prosthetic Repair in Congenital Diaphragmatic Hernia

“…Two additional variables previously considered by some to be of prognostic value in predicting the severity of lung hypoplasia in CDH, namely the gestational age at diagnosis and the LHR [12,19,20] , were not found to be predictive of patch repair in our series. Although many now refute the prognostic value of the gestational age at diagnosis and the LHR, a lack of correlation between prognostic markers and markers for prosthetic repair should not come as a surprise, in that it has long been accepted that there is no relationship between the size of the diaphragmatic opening and the volume of the herniation.…”

Evidence-Based Prenatal Management in Cases of Congenital Diaphragmatic Hernia

“…There are well-documented cases in which a prenatal ultrasonography scan performed in the second trimester had been normal but a diagnosis of diaphragmatic hernia was made at a later scan or even at birth (Johnson, 2005;Bronshtein et al, 1995). The time of CDH diagnosis has been evaluated in relation to perinatal prognosis.…”

“…A normal prenatal ultrasound scan does not guarantee that CDH is not present. The condition may be diagnosed later, still prenatally by ultrasonography or neonatally, even when a previous scan carried out in the second trimester of pregnancy was normal (Bronshtein et al, 1995;Johnson, 2005 …”