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Year : 2006  |  Volume : 16  |  Issue : 4  |  Page : 793-795
Antenatal diagnosis of congenital diaphragmatic hernia: A case report

Prathima Institute of Medical Sciences, Nagunur road, Karimnagar (A.P.) Pin code-505415, India

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Date of Submission28-Sep-2006
Date of Acceptance10-Nov-2006

Keywords: Congenital Diaphragmatic, Hernia, Antenatal

How to cite this article:
Phatak S V, Ghodke K. Antenatal diagnosis of congenital diaphragmatic hernia: A case report. Indian J Radiol Imaging 2006;16:793-5

How to cite this URL:
Phatak S V, Ghodke K. Antenatal diagnosis of congenital diaphragmatic hernia: A case report. Indian J Radiol Imaging [serial online] 2006 [cited 2021 Feb 25];16:793-5. Available from:

   Introduction Top

The topic of congenital diaphragmatic hernia frequently appears in medical literature since its first description in early18 th century. Initial theories about pathophysiology of this condition centered on the presence of herniated viscera within the chest and need for its prompt removal. Congenital diaphragmatic hernia occurs in every 200-4000 live births and accounts for 8% of all major congenital anomalies.[1]Prenatal diagnosis of congenital diaphragmatic hernia makes it possible to define the natural history of this lesion ,determine the pathophysiologic features that affect clinical outcome and formulate management based upon prognosis.[2]At present the principal advantage of its prenatal detection is the postnatal care can be facilitated.The mother can be transported to a neonatal center where the baby can be electively delivered ,resuscitated and repaired by fully prepared team of neonatologists and surgeons.The fetus with congenital diaphragmatic hernia is in no danger until birth ,so maternal transport is far safer than resuscitation and transport of the critically ill neonate.However even with these advantages most fetuses with prenatal diagnosis of congenital diaphragmatic hernia will die shortly after birth.[3]

   Case Report Top

A thirty-year-old second gravida with first normal child was referred for antenatal sonography. Single viable fetus of 32-33 wks. Was seen in cephalic presentation. Fetal chest showed mediastinal shift to right side. Fetal stomach and bowels were seen in the chest. Polyhydramnios was present. No other congenital anomaly was detected. Findings indicated possibility of congenital diaphragmatic hernia. After delivery radiograph chest of the baby confirmed findings of mediastinal shift and presence of bowels in left chest confirming diagnosis of congenital diaphragmatic hernia. Baby was later shifted to higher pediatric center for further management.

   Discussion Top

In 1946 Gross reported the first successful repair of a neonatal diaphragmatic hernia in the first 24 hours of life. The medical literature in next decade addressed congenital diaphragmatic hernia as a surgical problem and discussed various technical aspects of surgical repair including techniques to close large defects. In 1960s however Areechon and Reid observed that the high mortality rate was related to pulmonary hypoplasia at birth. Over last 20 years pulmonary hypoplasia and pulmonary hypertension have been recognized as two cornerstones of the pathophysiology of congenital diaphragmatic hernia. In recent years evidence suggests that dysfunction of surfactant system as well as cardiac maldevelopment may further comlpicate the pathophysiology of congenital diaphragmatic hernia. [1]

By 10 Wks. Of gestation the pleuroperitoneal canals should close and allow fetal diaphragm to separate thoracic and abdominal cavities .The fetal gut which has elongated outside the abdominal cavity is ready to return by 10-12 wks.and moves into the chest if diaphragm is not closed. Mass effect of herniated gut can impair branching and proliferation of developing airways and vessels from 5th to 17 th week in both ipsilateral and contralateral lung. The deleterious effect on alveolar development can be astounding. Autopsy analysis of lung specimens have revealed that instead of normal 20 million alveoli in a neonate the lung adjacent to diaphragmatic hernia may have as few as 5 % of expected alveoli and opposite lung if severely compromised from mediastinal shift may have 10% or less of normal amount. [4] Congenital diaphragmatic hernias occur in two locations. The more common type involves the foramen of bochdalek which is located in posterolateral corners of chest. In this portion the diaphragm fails to close completely during fetal development, abdominal viscera herniate into chest. Left-sided hernias are more frequent than right sided ones. On sonography congenital diaphragmatic hernia have been detected as early as 17-wks.of gestation. Mediastinal deviation is often the first seen and is the most obvious ultrasound sign of congenital diaphragmatic hernia. [5] The presence of intraabdominal organs in the chest should be confirmed by a true transverse scan of chest. Care should be exercised that the plane is truly transverse because in a normal fetus even slightest angulation of the transverse plane may cause heart and stomach to lie in same plane and lead to a false suspicion of congenital diaphragmatic hernia. As a rule if abdominal organs are visualized at the same level as four chamber view of the heart then the diagnosis is absolutely certain. Similarly abdominal organs extending cephalad to inferior margin of scapula are most likely herniated. In a longitudinal scan when the diaphragm can be observed, the delineation of thorax from abdomen is easily defined and location of herniated contents is confirmed. The presence of pleural effusion which is frequently found can facilitate the delineation of the diaphragm. As most defects involve only a portion of entire diaphragm it is extremely difficult to identify the diaphragmatic defect itself.[6]Abdominal circumference is usually lower than the fifth percentile for gestational age because abdominal organs are displaced upwards.[5]Polyhydramnios is known to be associated with this abnormality however it probably occurs late in pregnancy.[7]When congenital diaphragmatic hernia is associated with fetal growth retardation(Birth weight < 10 th percentile)high incidence of associated malformations is reported.[8]Reported associated anomalies in cases of congenital diaphragmatic hernia have ranged from extreme paucity to 40%.Reported associate anomalies include urinary tract obstruction,Gastrointestinal tract anomalies,cardiac anomalies,abdominal wall defects and chromosomal anomalies(trisomy 18).In the antenatal period ,congenital diaphragmatic hernia should be differentiated from conditions associated with cystic lung lesions(Congenital lobar emphysema,cystic adenomatoid malformation,),mediastinal cystic process (bronchogenic, neurenteric,thymic ),other conditions causing displacement of fetal mediastinum (dextrocardia, intrathoracic masses).[6]

Counseling regarding future pregnancies is difficult because exact means of inheritence is unknown. It may occur as sporadic event but familial cases have been demonstrated. [8]

Surgical correction of diaphragmatic hernia in utero in fetal lambs has been shown to be associated with lung growth and development enough to assure survival at birth. This procedure may be a future possibility for human fetuses with diaphragmatic hernia.[6]

   References Top

1.Robin H.Steinhorn et al congenital diaphragmatic hernia www 2603 htm Last updated May 26,2004.  Back to cited text no. 1    
2.N.Scott Adzick et al diaphragmatic hernia in fetus Prenatal diagnosis and outcome in 94 cases Journal of Paediatric surgery vol 20,No.4 (August), 1985:357-361.  Back to cited text no. 2    
3.Don K.Nakayama Prenatal diagnosis and Natural history of the fetus with a congenital diaphragmatic hernia: initial clinical experience J.of Paediatric surgery Vol 20,No.2 (April) 1985:118-124.  Back to cited text no. 3    
4.Dana S Schwartz, Miguel Reyes-Mugica and Marc S Keller imaging of surgical diseases of newborn chest. Intrapleural mass lesions RCNA vol 37,No.6, November 1999:1073-77.  Back to cited text no. 4    
5.Carol M Rumack, Stephanie R. Wilson, J Wiliam Charboneau Diagnostic Ultrasound Vol 2 Mosby yearbook 1991:761-763.  Back to cited text no. 5    
6.Anthony M Vintzileos Antenatal evaluation and management of ultrasonically detected fetal anomalies Obstetrics and gynecology Vol 69,No.4, April 1987:649-650.  Back to cited text no. 6    
7.Beryl R Benacerraf, Michael F Greene Congenital Diaphragmatic hernia US diagnosis prior to 22 Weeks gestation Radiology 1986; 158:809-810.  Back to cited text no. 7    
8.Robert J Stiller et al Congenital Diaphragmatic hernia: Antenatal Diagnosis and obstetrical management J Clin Ultrasound March -April 1985,13:212-215.  Back to cited text no. 8    

Correspondence Address:
S V Phatak
Consultant Radiologist, Prathima Institute of Medical Sciences, Nagunur road, Karimnagar (A.P.) Pin code-505415
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-3026.32350

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  [Figure - 1], [Figure - 2], [Figure - 3]


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