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Year : 2013  |  Volume : 1  |  Issue : 2  |  Page : 94-97

Epidemiology and outcome of congenital diaphragmatic hernia in a tertiary care university hospital: 10 Years' Experience

Department of Pediatrics, King Fahd Hospital of the University, Al-Khobar, College of Medicine, University of Dammam, Saudi Arabia

Date of Web Publication25-Dec-2013

Correspondence Address:
Hatim K Al-Turkistani
Department of Pediatrics, King Fahd Hospital of the University, Al-Khobar, P.O. Box 2208, Al-Khobar 31952
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1658-631X.123655

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Background: Congenital diaphragmatic hernia (CDH) is a major birth defect, which continues to be associated with significant rate of morbidity and mortality. CDH-local studies are limited. The objective of this article is to determine the epidemiology and demographics of CDH; and if the introduction of nitric oxide has influenced the outcome.
Materials and Methods: A retrospective 10-year medical records review of neonates with CDH admitted to the neonatal intensive care unit (NICU) of a tertiary care hospital.
Results: A total of 29 infants had been admitted to the NICU with CDH between January 2001 and December 2010. The mean gestational age was 38.58 ΁ 2.6 weeks and the mean birth weight was 2821 ΁ 682 g. The incidence of CDH among the inborn infants was 1/250 live births (P < 0.05) and the overall male to female ratio was 0.7. Of the 12 infants (41%) were inborn and 17 (59%) were referred from other centers. Out of the 29 infants, 23 (79%) were Saudis; the same figure was true for the vaginal deliveries and those born at term. Only 10 infants (34%) were diagnosed antenatally. The mean Apgar scores were 5 and 7 at the 1 st and 5 th min respectively. Two infants (7%) had right-sided defect against 27 (93%) who had it left-sided. Moreover, 18 infants had survived and were discharged home, with an overall mortality rate of 38% (compared with 45% before introducing inhaled nitric oxide [iNO]), P > 0.05.
Conclusion: The incidence of CDH was found much higher than the reported cases in literature; and although the mortality rate has improved after the introduction of iNO, the difference was not statistically significant. Both interesting findings necessitate further studies.

  Abstract in Arabic 

أجريت هذه الدراسة للوقوف على وبائية الفتق الحجابي الولادي وتغير نسبة الوفيات بعد استخدام مركب أكسيد النيترات في علاج المصابين. بينت الدراسة أن حدوث حالات الفتق الحجابي الولادي أعلى من النسبة العالمية بثمانية أضعاف وأن معدل الوفيات قد تحسن بعد استخدام مركب أكسيد النيترات علماً بأن ذلك لم يشكل نسبة إحصائية تذكر. وكلا النتيجتين تتطلبان المزيد من الدراسات المستقبلية.

Keywords: Congenital diaphragmatic hernia, inhaled nitric oxide, neonate, neonatal intensive care unit

How to cite this article:
Al-Turkistani HK. Epidemiology and outcome of congenital diaphragmatic hernia in a tertiary care university hospital: 10 Years' Experience. Saudi J Med Med Sci 2013;1:94-7

How to cite this URL:
Al-Turkistani HK. Epidemiology and outcome of congenital diaphragmatic hernia in a tertiary care university hospital: 10 Years' Experience. Saudi J Med Med Sci [serial online] 2013 [cited 2022 Dec 4];1:94-7. Available from: https://www.sjmms.net/text.asp?2013/1/2/94/123655

  Introduction Top

Congenital diaphragmatic hernia (CDH) is a fairly common problem and a well-known neonatal emergency. Although genetic theories have been proposed, the etiology is uniformly heterogeneous. The condition is due to an actual defect "hole" in the diaphragm. The management of CDH (medically and surgically) is a rich area of controversies. Many aspects of the management have been changed or modified over the last few decades. Of the important and recent revolutions in the management of CDH is the introduction of inhaled nitric oxide (iNO) to control the primary pulmonary hypertension that is frequently associated with CDH.

Nationally and in the Kingdom of Saudi Arabia, the number of hospital experiences is limited and doesn't serve as an appropriate reference for the local data base. There are a few scattered local studies the focused on CDH and almost no studies evaluated the Saudi experience of CDH before and after the era of iNO.

We aimed to study our experience (being the referral center for most of the CDH in Northeastern KSA) over the last 10 years and to compare the outcome before and after the introduction of iNO.

  Materials and Methods Top

This retrospective study was carried out at the neonatal intensive care unit (NICU) of a university hospital. It is the largest tertiary care hospital in the area and the only governmental hospital that provides level III neonatal service in our city. The NICU has a capacity of 18 beds and provides full level III neonatal care. This study was authorized by the ethical committee of the institution.

All CDH cases that were born at or referred between January-2001 until December-2010 were reviewed. The information obtained from old files includes gestational age, sex, birth weight, place and mode of delivery, nationality, site of hernia, length of hospital stay, Apgar scores and the mortality rate before and after the era of iNO.

For the statistical analysis, Microsoft excel spread sheet was used for data collection and data have been analyzed using the statistical package for the social sciences version 15.0. The means, ratio and percentages have been calculated and the statistical significance was set at P < 0.05. This study was authorized by the ethical committee of our institution.

  Results Top

During the 10-year period studied, there were a total of 29 cases of CDH admitted to our NICU. 12 infants (41%) were born in our hospital and 17 infants (59%) were referred from other hospitals (12 infants [41%] from private hospitals and 5 [18%] from other governmental/military hospitals in the region). The incidence of CDH for those born in our hospital was 1/250 live births, P < 0.05. Of the total of 29 infants with CDH, 12 infants (41%) were males and 17 (59%) were females; M/F = 0.7. 23 infants (79%) were Saudis and the remaining 6 (21%) were non-Saudis (P < 0.05); the same figures were noticed among vaginal versus cesarean deliveries and term versus preterm infants, 79% versus 21% respectively. Only 10 infants (34%) were diagnosed antenatally. The mean gestational age was 38.58 ± 2.6 weeks and the mean birth weight was 2821 ± 682 g. The average Apgar scores were five and seven at the 1 st and 5 th min respectively. Out of the 29 infants with CDH, 27 infants (93%) had left-sided defect while only 2 infants (7%) had right-sided defect. The average length of stay of CDH infants was 18.2 ± 14.11 days. Finally, 18 infants (62%) went home while 11 died with overall mortality rate of 38% (45% before introducing iNO), P > 0.05.

  Discussion Top

CDH is a developmental defect of diaphragm that occurs between 4 th and 10 th weeks of gestation. This defect leads to herniation of abdominal contents to the chest cavity. During this critical period, the lung development will be markedly impaired resulting in pulmonary hypoplasia and pulmonary hypertension. These two factors largely contribute to the high rate of mortality. [1],[2] The disease is sporadic, although there are many reports of CDH with familial (of different modes of inheritance), chromosomal and genetic association. [3],[4] There are also cases that are linked with environmental and teratogenic causes. [5],[6] Around 80% of cases occur on the left side while the remaining on the right side; [7] and bilateral CDH is quiet rare. Although the ipsilateral lung is site of involvement, the contalateral lung is almost always involved too. The anatomical spectrum ranges from a thin, sac-like, under-muscularized though intact diaphragm (eventration) to a total absence of diaphragm (agenesis). [8]

In literature, the incidence of CDH is about 1/2000 live births [9] (slightly higher in males); and about half of all cases are isolated CDH while the other half is syndromic or complex CDH. Our results, on the contrary, were different. The incidence among those born in our hospital was 1/250 live births, which is way higher than the reported incidence and females were slightly higher than males (F/M = 1.4); and only one patient had complex CDH (abdominal wall defect). The complex CDH is usually associated with various types of major structural anomalies (cardiac, brain, renal), chromosomal (trisomies 13, 18, 21), genetic and many other syndromes, [10],[11] which that single infant did not have; however, pulmonary hypoplasia, intestinal malrotation and dextrocardia are considered consequences to the initial defect therefore they are part of the isolated CDH.

The prognosis of CDH depends upon the many factors. The presence of chromosomal abnormalities, major congenital anomalies and herniation of liver are associated with worse prognosis. The larger the size the defect, the worse the prognosis is. There are other factors that could contribute to the prognosis; however, they are not confirmed as reliable indicators so far. [12] Although it is recommended to have the infant with CDH born in center where obstetrical, level III NICU and pediatric surgery services are available, 59% of the infants in our study were out born and then referred to our hospital. The referrals were either from governmental hospitals (because of unavailability of pediatric surgery service) or from private hospitals (because of the same reason and/or due to financial issues). The reported incidence of right-sided CDH is about 20% [7],[13] while in our study was 7%; it carries a worse prognosis because of liver herniation into the chest cavity.

A total of 23 infants (79%) were born vaginally and the remaining 6 (21%) by cesarean section; and only 10 (34%) infants out of the total number had been diagnosed antenatally. There is no clear evidence whether or not cesarean section could provide a better prognosis for the antenatally diagnosed infants with CDH. [14] Six infants in the study were preterm (21%) against 23 term infants (mean gestational age was 38.58 ± 2.6 weeks) and mean birth weight was 2821 ± 682 g, matching the reported figures. [15],[16] For the inborn infants, CDH was higher among Saudis (0.42% vs. 0.18% of the total NICU admissions), P < 0.05.

The vast majority of CDH infants present with respiratory distress shortly after birth. The chest appears large and the abdomen is scaphoid because of the herniation. There is decreased to absent breath sounds on ipsilateral lung and sometimes, bowel sounds upon auscultation. The heart sounds usually heard on the right side because of mediastinal shift. The signs of associated anomalies or chromosomal abnormalities could be detected right after birth. As a result of lung hypoplasia, persistent pulmonary hypertension (PPHN) develops instantly or a few hours later. Therefore, resuscitating an infant with CDH could be challenging, especially if not diagnosed antenatally. The average Apgar scores in the study were 5 and 7 at the 1 st and 5 th min respectively, which is considered quite satisfactory.

The management of CDH has changed over years. The old concept was that CDH is a surgical emergency that should undergo an immediate surgical repair. This concept was changed almost three decades ago when it was found that the most important determinant to the outcome is the pulmonary hypoplasia and thus PPHN. Since then the effort was switched toward stabilization of the infant, controlling the hemodynamics, treatment of hypoxia and acidosis and correction of ventilation perfusion mismatch. This approach has improved the outcome and increased the survival rate. [17] Many modalities of approaches have been tried over years to control the PPHN including alkanization, bicarbonate therapy and hyperventilation. iNO is also an approach to decrease the elevated pulmonary pressure, which has improved the outcome of many infants with PPHN. [18] For more than 10 years, iNO has been used in our NICU to control PPHN among infants with and without CDH. The mortality rate in the study was 38%, which is compared favorably with figures reported in most literature, including national ones. [16],[19] Although, this rate that represents the iNO era in our hospital is slightly better than the records before iNO (which was 45%), nevertheless, the difference is not statistically significant, P > 0.05. Whether or not that insignificant difference is because of the sample size, it necessitates a larger randomized control study to elucidate the difference on a larger scale.

  Conclusion Top

Despite the ongoing advancement in neonatal-perinatal medicine, CDH remains a serious condition and its rate of morbidity and mortality remains fairly high. The study has shown several results that are consistent with most of the large case-series references. However, the incidence of CDH - that was eight folds higher than what reported in the literature - and the insignificant difference in the outcome between before-and-after introductions of iNO require further studies.

  References Top

1.DiFiore JW, Fauza DO, Slavin R, Wilson JM. Experimental fetal tracheal ligation and congenital diaphragmatic hernia: A pulmonary vascular morphometric analysis. J Pediatr Surg 1995;30:917-23.  Back to cited text no. 1
2.Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol 2005;29:77-85.  Back to cited text no. 2
3.Tazuke Y, Kawahara H, Soh H, Yoneda A, Yagi M, Imura K, et al. Congenital diaphragmatic hernia in identical twins. Pediatr Surg Int 2000;16:512-4.  Back to cited text no. 3
4.Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007;80:825-45.  Back to cited text no. 4
5.Yang W, Shaw GM, Carmichael SL, Rasmussen SA, Waller DK, Pober BR, et al. Nutrient intakes in women and congenital diaphragmatic hernia in their offspring. Birth Defects Res A Clin Mol Teratol 2008;82:131-8.  Back to cited text no. 5
6.Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. Am J Med Genet 1998;79:215-25.  Back to cited text no. 6
7.Dott MM, Wong LY, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: Risk factors and survival in Metropolitan Atlanta, 1968-1999. Birth Defects Res A Clin Mol Teratol 2003;67:261-7.  Back to cited text no. 7
8.Tsang TM, Tam PK, Dudley NE, Stevens J. Diaphragmatic agenesis as a distinct clinical entity. J Pediatr Surg 1995;30:16-8.  Back to cited text no. 8
9.Harrison MR, Bjordal RI, Langmark F, Knutrud O. Congenital diaphragmatic hernia: The hidden mortality. J Pediatr Surg 1978;13:227-30.  Back to cited text no. 9
10.Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol 2005;29:69-76.  Back to cited text no. 10
11.Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet 2008;74:1-15.  Back to cited text no. 11
12.Datin-Dorriere V, Rouzies S, Taupin P, Walter-Nicolet E, Benachi A, Sonigo P, et al. Prenatal prognosis in isolated congenital diaphragmatic hernia. Am J Obstet Gynecol 2008;198:80.e1-5.  Back to cited text no. 12
13.Brownlee EM, Howatson AG, Davis CF, Sabharwal AJ. The hidden mortality of congenital diaphragmatic hernia: A 20-year review. J Pediatr Surg 2009;44:317-20.  Back to cited text no. 13
14.Frenckner BP, Lally PA, Hintz SR, Lally KP, Congenital Diaphragmatic Hernia Study Group. Prenatal diagnosis of congenital diaphragmatic hernia: How should the babies be delivered? J Pediatr Surg 2007;42:1533-8.  Back to cited text no. 14
15.Tsao K, Allison ND, Harting MT, Lally PA, Lally KP. Congenital diaphragmatic hernia in the preterm infant. Surgery 2010;148:404-10.  Back to cited text no. 15
16.Khawahur H, Kattan A, Al-Alaiyan S, Saidy K. Congenital diaphragmatic hernia: A local experience. Ann Saudi Med 1999;19:501-4.  Back to cited text no. 16
17.Reickert CA, Hirschl RB, Schumacher R, Geiger JD, Cox C, Teitelbaum DH, et al. Effect of very delayed repair of congenital diaphragmatic hernia on survival and extracorporeal life support use. Surgery 1996;120:766-72.  Back to cited text no. 17
18.Inhaled nitric oxide in term and near-term infants: Neurodevelopmental follow-up of the neonatal inhaled nitric oxide study group (NINOS). J Pediatr 2000;136:611-7.  Back to cited text no. 18
19.van Loenhout RB, Tibboel D, Post M, Keijzer R. Congenital diaphragmatic hernia: Comparison of animal models and relevance to the human situation. Neonatology 2009;96:137-49.  Back to cited text no. 19


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