Prenatal diagnosis of diaphragmatic hernia

Introduction:

Congenital diaphragmatic hernia (CDH) is a rare but severe condition that occurs in one in approximately 2400 live births. It's defined by the presence of an orifice in the diaphragm, more often left and poster lateral that permits the herniation of abdominal contents into the thorax. Improvements in prenatal ultrasound have resulted in approximately 50% of these infants being diagnosed early in pregnancy, usually between week 16 and week 24 of gestation.

Objective:

To describe the prenatal diagnosis of 3 cases of diaphragmatic hernia.

Methods:

A retrospective report of 3 cases diagnosed prenatally in our unit from January 2011 to December 2013.

Results:

The mean age was 32.6 years.

Case1:

This was a right CDH with polyhydramnios diagnosed at 29 weeks. The MRI confirmed the ultrasound diagnosis and demonstrated absence of liver herniation and the left lung volume was 40% to 50% of total pulmonary volume.

Case2:

This was a left CDH diagnosed at 22weeks. In addition there was intrauterine growth retardation and the fetal karyotype was normal. The MRI confirmed the diagnosis with absence of liver herniation and the left lung volume was 30% of total pulmonary volume.

Case3:

This was a left CDH diagnosed at 24 weeks. Additional ultrasound findings were hypoplastic left heart and mitral dysplasia. The karyotype was normal.

All cases had surgical repair taken place immediately after birth.

Discussion:

Diaphragmatic hernia is often isolated and sporadic, but may be integrated as part of dyschromosomic or syndromic malformation context with risk of recurrence. The most common type of diaphragmatic hernia is congenital hernia bochdalick (75% of cases), the left unilateral more often (9 times out of 10) due to the persistence of the pleuro- peritoneal channel.

Direct ultrasonographic signs, particularly the absence of visualization of the entire diaphragm dome, with direct visualization of digestive structures in the chest.

Indirect ultrasonographic signs that usually attract attention are right deviation of the heart. The uninhabited abdominal appearance and stomach situation found in contact with the left posterior lateral edge of the heart. The presence of digestive structure in the thorax instead of left lung in the form of pictures heterogeneous echogenic often, driven peristalsis, sometimes the rise of the left liver lobe.

Conclusion:

Many children with CDH develop pulmonary hypoplasia, a condition characterized by small, underdeveloped lungs that can affect not only breathing, but also heart function, ability to feed and overall development. That's why prenatal diagnosis is important to determine the severity of fetus's condition.