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Congenital Diaphragmatic Hernia

Professional Reference articles are written by UK doctors and are based on research evidence, UK
and European Guidelines. They are designed for health professionals to use, so you may find the
language more technical than the condition leaflets.

Congenital diaphragmatic hernia is produced by the failure of the diaphragm to fuse

properly during fetal development, allowing the abdominal organs to migrate up into
the chest cavity. This results in the two primary problems underpinning congenital
diaphragmatic hernias: pulmonary hypertension and pulmonary hypoplasia. This is
compounded by dysfunction of the surfactant. Associated diseases, notably cardiac
abnormalities, are frequent.

There are three basic types of hernia:

Posterolateral Bochdalek's hernia occurs at around 6 weeks of gestation: a left-sided Bochdalek's hernia occurs in
approximately 85% of cases.[1]Left-sided hernias allow herniation of both small and large bowel as well as intra-
abdominal solid organs into the thoracic cavity. In right-sided hernias (13% of cases) only the liver and a portion of the
large bowel tend to herniate. Bilateral hernias are uncommon and pose very difficult problems.[2] Other features include:
A variable degree of pulmonary hypoplasia with reduction in the area for gas exchange and dysfunction of the
surfactant system.
Left ventricular hypoplasia is seen in very severe cases.
Pulmonary capillary blood flow is decreased because of the small area of the pulmonary vascular bed. It may be
further decreased by abnormal pulmonary vasoconstriction.

Anterior Morgagni's hernia through the foramen of Morgagni represents about 3% of diaphragmatic hernias. It tends to
be small and is easily repaired via the laparoscope.
Hiatus hernia is often taken as synonymous with gastro-oesophageal reflux disease but the latter is often functional
rather than structural in origin. Hiatus hernia only needs repair if symptoms are severe.

Epidemiology
Congenital diaphragmatic hernia occurs in 1 in 2,500 births.[3] It accounts for 8% of all
major congenital defects. Males are more commonly affected than females with a ratio
of 3:2.

Right-sided lesions are rare (10-15%) compared with left-sided (85%) as the liver plugs
the opening. Right congenital diaphragmatic hernia carries a disproportionately high
mortality and morbidity.[4, 5]

Risk factors
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The majority of cases are idiopathic.

Familial clusters have occasionally been observed (<2% of cases) and chromosomal abnormalities are thought to
account for approximately 30% of cases. It is thought most likely that these clusters are due to multifactorial inheritance
and recently the 15q24-q26 site has been linked with this condition.[6]
The risk of recurrence in a future pregnancy is about 2%.

Presentation
Many cases are now diagnosed prenatally on routine ultrasound scans or scans
following the discovery of polyhydramnios in the mother.[7]This allows for detailed
planning of the delivery and immediate aftercare of the neonate. Previously
undiagnosed cases still occur and these will usually present at or very soon after birth,
depending on the severity of the hernia. Signs include:

Cyanosis soon after birth.

Tachypnoea.
Tachycardia.
Asymmetry of the chest wall.
Absent breath sounds on one side of the chest, usually the left with the heart shifted to the right.
Bowel sounds audible over the chest wall.
The abdomen possibly feels 'less full' on palpation.

About 10% of patients may present rather later than birth, even into adult life.[8,
9]These are the least severe and prognosis is much better.[10]

Differential diagnosis
Pneumothorax.
Pleural effusion.
Aspiration syndromes.
Persistent newborn pulmonary hypertension.

Investigations
Many infants are now diagnosed in utero by ultrasound scan.
CXR or ultrasound scan will confirm the diagnosis in a neonate who has not previously been diagnosed. Also look for
pneumothorax.
Arterial blood gas measurements are required for pH, PaCO2 and PaO2. With persistent pulmonary hypertension with
right-to-left ductal shunting, the PaO2 may be higher from a pre-ductal (right-hand) sampling site.
Monitor blood for electrolytes, calcium and glucose.
Ultrasound of the heart and urinary system may be required to assess for other abnormalities.
Cranial ultrasonography will highlight neural abnormalities such as hydrocephalus and neural tube defects.
Chromosomal analysis may be indicated.

Associated diseases
Posterolateral hernia may occur in association with other congenital anomalies and is
part of multiple malformations in up to 40% of infants. The other areas involved are
principally the cardiovascular, genitourinary and gastrointestinal systems. Retrosternal
hernias are also associated with cardiovascular, genitourinary and gastrointestinal
malformation. Lethal anomalies are present in up to 16% of infants.

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Karyotype abnormalities have been reported in 4% of infants and they may be found
in various chromosomal anomalies, including trisomy 13 (Patau's syndrome), trisomy
18 (Edwards' syndrome), trisomy 21 (Down's syndrome), Turner syndrome (monosomy
X) and Pallister-Killian syndrome (tetrasomy 12p mosaicism).

It may also be associated with nonchromosomal disorders such as Cornelia de

Lange's syndrome.

Management
Immediate care
Children born without a prior diagnosis of congenital diaphragmatic hernia, present a paediatric emergency and the
initial management must be aimed at reducing the pressure in the chest and increasing oxygenation. If bowel sounds
are heard in the chest of a neonate who has respiratory distress, the child should be resuscitated in a 'head up',
rather than the more usual 'head down', position.
Endotracheal intubation and mechanical ventilation are required for all infants with severe disease who present in the
first hours of life.
Avoid bag-and-mask ventilation in the delivery room because the stomach and intestines become distended with air and
further impair lung function.
Passage of an orogastric tube will facilitate location of the stomach on X-ray, as well as permitting decompression of the
stomach.
Use of surfactant at an early stage may be beneficial.
Blood gases should be monitored and an indwelling arterial catheter is advantageous.
An indwelling venous catheter will enable administration of drugs (eg, inotropic agents and hypertonic solutions).

Non-surgical management
The aim is to optimise oxygenation while avoiding barotrauma.[11] These infants are
critically ill and will invariably need intensive care support. This involves mechanical
ventilation, blood pressure support via volume expansion/inotropic agents/colloid
agents, monitoring of glucose levels and adequate calcium concentrations. PaO2 and
PaCO2 targets remain a little controversial.

Alkalinisation may be used because of its ability to produce a rapid pulmonary

vasodilation.

The use of nitric oxide in the management of these children remains controversial.
Some have found that the beneficial effects are dubious but others report a positive
outcome in the management of pulmonary hypertension associated with congenital
diaphragmatic hernia.[12] A Cochrane review concluded that it appears reasonable to
use inhaled nitric oxide for term and near-term infants with hypoxic respiratory failure
but only those without a diaphragmatic hernia.[13]

Surgical management
Surgery consists of replacing the abdominal organs within the abdominal cavity and
repairing the diaphragmatic defect. It used to be performed early, in the first 24 hours
of life. Some suggest that repair 24 hours after stabilisation is ideal but delays of up to
7 or 10 days are often well tolerated. Many surgeons now prefer to operate when
echocardiography has shown normal pulmonary arterial pressures maintained for at
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least 24 to 48 hours. Therefore, delayed surgical repair is now usual, performed as an

elective procedure, and rarely as an out-of-hours procedure.[11]

Respiratory support will be required before, during and after surgery and, in some cases, extracorporeal membrane
oxygenation (ECMO) may be used to maintain oxygen levels whilst allowing the lungs to recover. This is essentially an
adaptation of a coronary bypass, involving insertion of catheters into the internal carotid artery, the internal jugular vein
or both and the use of a membrane lung. It is used where there is severe but reversible respiratory failure in term (or
near-term) infants.[14] The addition of surfactant does not seem to offer any benefit.[15]
Circulatory stability, respiratory mechanics and gas exchange deteriorate after surgical repair.
Thoracoscopic repair has been found safe and efficacious by the National Institute for Health and Care Excellence
(NICE).[16]

Fetal surgery
It is not possible to perform intrauterine correction of the defect of the diaphragm but
an innovative approach of ligation or occlusion of the fetal trachea has been
developed. The fetal lung secretes fluid that provides a template for lung growth.
Occlusion of the fetal trachea traps this fluid and stimulates lung growth, either by
retention of growth factors within the lung or stimulation of local growth factors by the
gentle distension provided by the fluid. In the fetal lamb model, this procedure
reverses both pulmonary hypoplasia and vascular abnormalities but does not correct
left ventricular hypoplasia.

This has been performed in a small number of cases, using both fetal tracheal
occlusion via open hysterotomy and the recently developed video-fetoscopic technique.
The results were rather better with the latter technique but it is still early to decide its
place in management. The selection criteria for in utero surgery remain controversial.
The position of the fetal liver and the size of the fetal lungs relative to the fetal head
are used as indicators of severe disease.[17] Optimal timing during gestation and
length of occlusion are still under investigation.

Complications[18]
The advent of improved prenatal imaging has already improved the prognosis and
advances in fetal surgery will undoubtedly further improve the outlook for these
children; however, long-term problems are common.

Lungs
Some severely affected infants have chronic lung disease (characterised by obstructive
and restrictive lung function impairments due to altered lung structure and prolonged
ventilatory support). They may require prolonged oxygen and diuretics, as for
bronchopulmonary dysplasia. The use of steroids, particularly high doses for prolonged
periods, is controversial and may actually hinder appropriate lung and brain
development. There are also residual persistent vascular abnormalities which may give
rise to recalcitrant pulmonary hypertension.

Nervous system

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Nervous system damage may arise as a result of perinatal and neonatal hypoxaemia
in the first days of life. Possible cerebral injury may be assessed via CT scanning.
Before discharge a hearing check should be made and there is a high incidence of
hearing loss. This should be repeated at 6 months. Developmental assessment should
be made with close follow-up for three years and further assessment before starting
school.

Feeding
Significant gastro-oesophageal reflux is very common. Most cases can be managed
medically but surgical intervention with Nissen or Thal procedures is sometimes
required. Failure to thrive may result from increased energy requirements with chronic
lung disease, poor oral feeding because of neurological delays and gastro-oesophageal
reflux. For those surviving into adulthood, the incidence of oesophagitis is high and
Barrett's oesophagus may ensue.

Prognosis
Pulmonary hypoplasia, persistent pulmonary hypertension and surfactant deficiency are
largely responsible for the outcome. Herniated viscera in the chest per se do not have
an adverse effect as long as bowel decompression is continuous using a nasogastric
tube.

Increasing severity of pulmonary hypertension is associated with increasing mortality.

Other factors associated with mortality were birth weight, gestational age at birth,
inborn status and need for extracorporeal membrane oxygenation.[19]

For those children known to have congenital diaphragmatic hernia but who have not
had fetal surgery, prior planning, not only of the delivery but also of provision of
immediate supportive care and emergency surgery, has improved prognosis.

For those infants diagnosed in utero, the survival rate is now as high as 80% with
antenatal diagnosis and optimal care.[20] Antenatal diagnosis means that the condition
is expected, resuscitation is anticipated and delivery can be in a place that offers
ECMO - all of which improve outcome.

In general, those children who do less well are those in whom the fetal stomach is
present in the chest and those whose mothers are diagnosed as having
polyhydramnios. The presence of associated malformations is also a poor prognostic
factor.[17] Bilateral hernias are usually fatal. Overall survival is about 50% but this
varies between units and according to the individual circumstances of the patient.[18]

Further reading & references

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1. Keijzer R, Puri P; Congenital diaphragmatic hernia. Semin Pediatr Surg. 2010 Aug 19(3):180-5. doi:
10.1053/j.sempedsurg.2010.03.001.
2. Neville HL, Jaksic T, Wilson JM, et al; Bilateral congenital diaphragmatic hernia. J Pediatr Surg. 2003 Mar 38(3):522-
4.
3. van den Hout L, Sluiter I, Gischler S, et al; Can we improve outcome of congenital diaphragmatic hernia? Pediatr
Surg Int. 2009 Sep 25(9):733-43.
4. Parate LH, Geetha CR, Vig S; Right sided congenital diaphragmatic hernia: A rare neonatal emergency. Saudi J
Anaesth. 2015 Apr-Jun 9(2):227-9. doi: 10.4103/1658-354X.152900.
5. Topor L, Patrancus T, Caragata R, et al; Left congenital diaphragmatic hernia -- case report. Chirurgia (Bucur). 2015
Jan-Feb 110(1):84-7.
6. Biggio JR Jr, Descartes MD, Carroll AJ, et al; Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus?
Am J Med Genet A. 2004 Apr 15 126(2):183-5.
7. Bianchi E, Mancini P, De Vito S, et al; Congenital asymptomatic diaphragmatic hernias in adults: a case series. J
Med Case Rep. 2013 May 13 7:125. doi: 10.1186/1752-1947-7-125.
8. Al Ghafri M, Al Sidairi I, Nayar M; Late presentation of congenital diaphragmatic hernia: a case report. Oman Med J.
2014 May 29(3):223-5. doi: 10.5001/omj.2014.57.
9. Gujar A, Rodrigues DD, Patil K, et al; Rare case report - congenital diaphragmatic hernia presentation in adult.
Indian J Surg. 2013 Jun 75(Suppl 1):44-6. doi: 10.1007/s12262-011-0321-7. Epub 2011 Jun 3.
10. Baglaj M; Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum. Pediatr Surg Int. 2004
Sep 20(9):658-69. Epub 2004 Sep 3.
11. Bosenberg AT, Brown RA; Management of congenital diaphragmatic hernia. Curr Opin Anaesthesiol. 2008 Jun
21(3):323-31.
12. Shiyanagi S, Okazaki T, Shoji H, et al; Management of pulmonary hypertension in congenital diaphragmatic hernia:
nitric oxide with prostaglandin-E1 versus nitric oxide alone. Pediatr Surg Int. 2008 Oct 24(10):1101-4.
13. Finer NN, Barrington KJ; Nitric oxide for respiratory failure in infants born at or near term. Cochrane Database Syst
Rev. 2001 (2):CD000399.
14. Mugford M, Elbourne D, Field D; Extracorporeal membrane oxygenation for severe respiratory failure in newborn
infants. Cochrane Database Syst Rev. 2008 Jul 16 (3):CD001340.
15. Colby CE, Lally KP, Hintz SR, et al; Surfactant replacement therapy on ECMO does not improve outcome in
neonates with congenital diaphragmatic hernia. J Pediatr Surg. 2004 Nov 39(11):1632-7.
16. Thoracoscopic repair of congenital diaphragmatic hernia in neonates; NICE Interventional Procedure Guidance,
January 2011
17. Deprest JA, Flemmer AW, Gratacos E, et al; Antenatal prediction of lung volume and in-utero treatment by fetal
endoscopic tracheal occlusion in severe isolated congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2008
Oct 7.
18. Peetsold MG, Heij HA, Kneepkens CM, et al; The long-term follow-up of patients with a congenital diaphragmatic
hernia: a broad spectrum of morbidity. Pediatr Surg Int. 2008 Oct 8.
19. Wynn J, Krishnan U, Aspelund G, et al; Outcomes of congenital diaphragmatic hernia in the modern era of
management. J Pediatr. 2013 Jul 163(1):114-9.e1. doi: 10.1016/j.jpeds.2012.12.036. Epub 2013 Jan 30.
20. Doyle NM, Lally KP; The CDH Study Group and advances in the clinical care of the patient with congenital
diaphragmatic hernia. Semin Perinatol. 2004 Jun 28(3):174-84.

Author: Last Checked:

Dr Colin Tidy 23 June 2015

Peer Reviewer: Next Review:

Dr Adrian Bonsall 21 June 2020

Document ID:
1990 (v23)

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