Malformations of the diaphragm and abdominal wall defects

ERNICA covers the following diseases within the working group for malformation of the diaphragm and abdominal wall effects

Congenital diaphragmatic hernia

occurs when there is a hole in the diaphragm, which is the thin sheet of muscle separating the chest from the abdomen.

Omphalocele

An omphalocele is a defect of the muscles of the abdominal wall that develops in the fetal stage.

Gastroschisis

A rare abdominal wall malformation characterized by the bowel protruding from the fetal abdomen on the right lateral base of the umbilical cord, and without a covering sac.

Eventration of diaphragm

Is the abnormal elevation of a portion or entire hemidiaphragm due to lack of muscle or nerve function while maintaining its anatomical attachments.

Congenital Hiatus Hernia

Congenital diaphragmatic hernia (CDH)

Congenital diaphragmatic hernia (CDH) is a rare birth defect involving a 'rupture' (hernia) in the diaphragm. The diaphragm is a flat muscle that separates the abdominal cavity from the chest. It is formed during the tenth week of pregnancy. The diaphragm also helps with breathing. The hernia may cause part of the abdominal contents to enter the thoracic cavity. This leads to underdevelopment of the lungs (lung hypoplasia) and displacement of the heart to the other side of the body.

The defect usually occurs on the left side (80%), and sometimes on the right. On the right side it does not always cause problems because the liver on the right side of the abdomen can close the defect. If part of the liver ends up in the thoracic cavity, it does cause symptoms. With a left-sided defect, the stomach, intestines or spleen can end up in the thoracic cavity. The defect in the diaphragm causes the contents of the abdomen to enter the thoracic cavity and to displace the lung. This leads to underdevelopment of the lung, with less branching of the respiratory tract and an abnormal formation of blood vessels. This can lead to high pressure in the blood vessels of the lungs (pulmonary hypertension). The degree of underdevelopment of the lungs and the severity of the high blood pressure in the lungs determine the course of this disease and its long-term consequences.

Image congenital diaphragmatic hernia (CDH).jpg

The left-hand drawing shows the healthy situation in which the diaphragm is closed. In the middle drawing the diaphragm on the left has a rupture. The right-hand drawing shows that the intestines enter the thoracic cavity through the rupture, leaving the lungs with less space to develop. The life expectancy of children with congenital diaphragmatic depends largely on the location of the defect and the degree of development of the lungs.

Considering prenatal and preoperative fatalities, mortality is 50-60%. Post-operative survival rate is 70-80%, up to 90% in certain institutions, particularly in non-syndromic CDH. Right-sided hernias seem to have a worse prognosis and may require more ECMO support. After surgical repair, pleural effusions and chronic respiratory tract disease are frequent, along with gastroesophageal reflux. Neurodevelopmental deficits are a risk following bouts of cerebral hypoxia. Neurosensorial deafness has been reported in a small proportion of patients.

Termination of pregnancy may be offered when chromosomal aberrations and syndromes are present. Fetoscopic endoluminal tracheal occlusion (FETO) with a balloon, particularly for fetuses considered otherwise unviable, has yielded survival rates approaching 50%. Gestation should be prolonged until near term if possible; maternal corticosteroids have also been proposed. In newborns, pre- and post-ductal percutaneous oxygen saturation measurements may assess the pulmonary function. Spontaneous ventilation or high frequency, low pressure ventilation (<20-25 cm H2O), no relaxation, alkalinization and adoption of modest gasometric goals (pre-ductal saturation of 80-95%, PaO2 60 mm Hg, hypercapnia <60 mm Hg) are now the standard. Extra-corporeal membrane oxygenation (ECMO) has also been used. Inotropic drugs (eg: dobutamine, dopamine) may be used to treat cardiac anomalies. Surgical repair of the hernia, undertaken only after cardio-respiratory functions are stable, replaces viscera into the abdomen and closes the diaphragmatic defect; a prosthetic patch may be necessary to repair the defect. Some surgeons perform this operation by video-assisted thoracoscopy.

Omphalocele

An omphalocele is a defect of the muscles of the abdominal wall that develops in the fetal stage. The intestines, liver and occasionally other organs are then located outside of the abdomen in a translucent membrane sac. The defect can be small, with only a small loop of intestines present outside the abdomen, or large, with most of the abdominal organs protruding from the abdomen (giant omphalocele). In severe cases surgical treatment is complicated by the abnormally small volume of the infant’s abdomen – as there was no need for expansion to accommodate the developing organs. Giant omphalocele is often associated with lung hypoplasia (sometimes severe) for which respiratory support is needed.

Approximately 25–40% of infants with an omphalocele have other birth defects. These may include genetic problems (chromosomal abnormalities), congenital diaphragmatic hernia, and heart defects. A ’small’ type omphalocele (involving protrusion of a small portion of the intestine only) occurs in one of every 5,000 live births. A giant omphalocele (involving protrusion of the intestines, liver, and other organs) occurs in one of every 10,000 live births.

Diagnosis is usually made before birth by ultrasound, and can be detect as early as 11 to 14 weeks gestation in tertiary level referral centers. Associated malformations can then be sought for and management of the infant can be timely prepared in specialized units.

The prognosis for isolated omphalocele depends on the size of the defect; prognosis for small omphalocele is very good; however, giant omphalocele have a risk of pulmonary hypoplasia. Recent improvements to resuscitation and surgical techniques (through abdominal prostheses) have notably improved the prognosis of giant isolated omphaloceles, who present with some degree of pulmonary hypoplasia, over the last three decades. In syndromic cases, the main prognostic factor is the associated anomalies, especially cardiac defects.

Gastroschisis

Gastroschisis is a rare condition that develops between weeks 8-11 of pregnancy. It consists of a defect in the abdominal wall to the right of the navel. The size of the defect may vary. Due to this defect, abdominal organs bulge outwards and lie freely in the uterus or on the abdomen after birth. The large and small bowel, spleen, stomach and sometimes the liver are involved. Because the intestines are outside the abdomen, they can become irritated and thickened.

Experts from the ERNICA network have developed a European guideline on the management of Gastroschisis is developed

Diagnosis is usually made before birth during prenatal ultrasound (US) in the first trimester, allowing the birth to be arranged in a specialized unit where surgery can be performed immediately and intensive neonatal support is available.