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 Table of Contents  
ORIGINAL ARTICLE
Year : 2014  |  Volume : 3  |  Issue : 4  |  Page : 205-210

Major congenital malformations of the gastrointestinal tract among the newborns in one of the English Caribbean Countries, 1993 - 2012


1 Department of Pediatrics, Faculty of Medical Sciences, University of the West Indies (Cave Hill); Department of Pediatrics, The Queen Elizabeth Hospital, Barbados
2 Department of Anatomy, Faculty of Medical Sciences, University of the West Indies (Cave Hill), Barbados

Date of Web Publication14-Nov-2014

Correspondence Address:
Keerti Singh
Department of Anatomy, Faculty of Medical Sciences, University of the West Indies (Cave Hill)
Barbados
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2249-4847.144751

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  Abstract 

Background: To study the prevalence and pattern of major congenital malformations of the gastrointestinal tract among the newborns in one of the English Caribbean countries. Materials and Methods: This study includes all newborns with major congenital malformations of the gastrointestinal tract in Barbados from 1993 to 2012. The birth register and the neonatal admission register at the Queen Elizabeth Hospital, where over 90% of all deliveries in this country take place, were the main source of data. Results: The overall prevalence of major congenital malformations of the digestive system in newborns was 7.28 per 10,000 live births. There were 15 (32.6%) cases of congenital absence, atresia, and stenosis of the small intestine giving a prevalence rate of 2.37/10,000 live births and 13 cases (28.3%) of esophageal atresia giving a prevalence rate of 2.06/10,000 live births. The overall prevalence of major congenital malformations of the gastrointestinal tract increased from 4.46/10,000 live births during 1993 - 1997 to 10.50/10,000 live births during 2008 - 2012. The prevalence of the absence, atresia or stenosis of the small intestine increased from 0.64/10,000 live births during 1993 - 1997 to 5.25/10,000 live births during 2008 - 2012. Overall 1.1% of all neonatal deaths were attributed to major malformations of the digestive system. Conclusions: Congenital absence, atresia, and stenosis of the small intestine were the most common malformations, with increasing prevalence over the study period. Tracheoesophageal fistula was the second most prevalent malformation and it had a high case fatality rate.

Keywords: Caribbean, congenital malformation, gastrointestinal tract, prevalence, tracheoesophageal fistula


How to cite this article:
Kumar A, Singh K. Major congenital malformations of the gastrointestinal tract among the newborns in one of the English Caribbean Countries, 1993 - 2012. J Clin Neonatol 2014;3:205-10

How to cite this URL:
Kumar A, Singh K. Major congenital malformations of the gastrointestinal tract among the newborns in one of the English Caribbean Countries, 1993 - 2012. J Clin Neonatol [serial online] 2014 [cited 2021 Jun 22];3:205-10. Available from: https://www.jcnonweb.com/text.asp?2014/3/4/205/144751


  Introduction Top


Major Congenital Malformations of the Gastrointestinal Tract (MCMGIT) usually manifest in the neonatal period, with symptoms and signs of gastrointestinal tract obstruction and they can be life-threatening. The reported proportion of all major congenital malformations (MCM) that involve the gastrointestinal tract have shown a wide variation among different countries and ethnicities, with proportions as low as 1% to as high as 45.2%. [1],[2],[3],[4],[5],[6],[7],[8] MCMGIT is a significant cause of neonatal morbidity and mortality. [8],[9],[10],[11],[12] Developmental, teratogenic, socioethnic, and genetic factors play a considerable role in the etiology of MCM, including MCMGIT, and influence the pattern of these malformations. [13],[14],[15],[16],[17],[18],[19],[20],[21] The study of an individual congenital malformation in different communities may help to provide clues to the demographic, environmental, and reproductive factors of its etiology. The overall incidence and pattern of MCMGIT may also yield valuable information for planning healthcare policies for future healthcare needs.

The malformations of the gastrointestinal tract in general are relatively less well-studied compared to the malformations of other body systems. To our knowledge there is no published report on the prevalence and pattern of congenital malformations of the gastrointestinal tract from the English speaking Caribbean countries. Barbados is one of the English speaking Caribbean countries. It has a total population of 250,010 (2011 census), the majority being of African descent. The Infant Mortality Rate (2005) is 17.3 per 1000 live births. The captive population of this island and the single centralized delivery and neonatal care facility provides good opportunities for a population-based epidemiological study of MCM. This report aims to describe the prevalence and pattern of MCMGIT detected at birth. It also describes the demographic characteristics, morbidity, and mortality associated with MCMGIT. This report would provide baseline data for future studies and also provide the data for future healthcare planning in this country.


  Materials and methods Top


Over 90% of all deliveries in this country take place at the Queen Elizabeth Hospital (QEH), the only tertiary care hospital, with a well-equipped Neonatal Intensive Care Unit (NICU). The rest (<10%) of the deliveries take place at a private birthing facility. Close to 100% of all pregnant women in Barbados receive adequate antenatal care. All births (both live born and still born) in this country are recorded in the Birth Register in the Labor Unit at the QEH. All babies born at the hospital are attended to by the house staff in Pediatrics, within 24 hours of delivery. Babies with major congenital malformation detected during routine newborn care, who require immediate intervention, investigation or observation for early complications, are routinely transferred to the NICU for further management. Other normal babies are routinely discharged 48 to 72 hours post delivery. A minority of the babies born outside the QEH and found to have major congenital malformations are also transferred to the NICU for further care. All admissions to the NICU are recorded in the NICU admission register maintained in the unit.

This was a retrospective clinical audit covering the period extending from 1993 to 2012. All live born babies with major congenital malformations of the digestive system were identified from the Admission Register in the NICU of the hospital. Still births with congenital malformations were excluded from this audit. Babies born with a cleft lip and cleft palate were excluded from this report, as they were categorized separately from other congenital malformations of the digestive system in the International Classification of Diseases-10 (ICD10), a classification of diseases by the World Health Organization (WHO). [22] Under this classification, congenital malformations of the digestive system are grouped/categorized as Q38 -Q45, which is further classified under the nine major subheadings including, other congenital malformations of the tongue, mouth, and pharynx (Q38); congenital malformations of the esophagus (Q39); other congenital malformations of the upper alimentary tract (Q40); congenital absence, atresia, and stenosis of the small intestine (Q41); congenital absence, atresia, and stenosis of the large intestine (Q42); other congenital malformations of the intestine (Q43); congenital malformations of the gallbladder, bile duct, and liver (Q44), and other congenital malformations of the digestive system (Q45).

The details of maternal demography including age and parity were recorded from the maternal case record. The neonate's gender, birth weight, gestational age, complete diagnosis of the congenital malformation, and the neonatal outcome in terms of discharge/transfer or death, was obtained from the neonate's case record. Data on the total live births and the total number of newborns who required admission to the NICU, as well as the neonatal deaths throughout the study period, were collected from the birth register in the Labor Ward and the neonatal admission register in the NICU, respectively. The birth statistics for the minority of the births outside the hospital were also collected. Ethical approval was obtained from the Ethics Committee at the QEH and the Ethics Board of the University of the West Indies and Ministry of Health, Barbados.

All precautions were taken to protect the personal information of the patients. Only the investigators had access to the database and the data was stored in a specially created Microsoft Excel spreadsheet. The same software program was used for data tabulation and generation of graphs. The results were analyzed using simple statistical techniques and tests of significance, including the Chi-square test.


  Results Top


During the 20-year period of reporting, there were a total of 46 newborns with MCMGIT (Q34 -Q45) from among the 63,827 live births. The overall prevalence of MCMGIT was 7.21/10,000 (95% CI = 5/10,000, 9/10,000) live births. MCMGIT accounted for 12.5% (95% CI = 9.4%, 16.5%) of the overall 367 cases of MCM in the newborns recorded over the same period. The pattern of MCMGIT is shown in [Table 1]. Congenital absence, atresia, and stenosis of the small intestine (Q41) was the most common MCMGIT, with 15 (32.6%; 95% CI = 20.0%, 48.1%) cases, and a prevalence of 2.37/10,000 (95% CI = 1/10,000, 4/10,000) live births. Six of these cases had additional associated MCM, Trisomy 21 (2), malformation of the circulatory system (2), Persistent Ductus Arteriosus and Atrioventricular canal defect (one each), duplication of the ureter (1), and bilateral talipes equinovarus deformity (1). There were 13 (28.3%; 95% CI = 16.5%, 43.7%) cases of congenital malformation of the esophagus, all of which were atresia of the esophagus, with (12) or without (1) tracheal fistula (Q39.0/Q39.1) giving a prevalence of 2.06/10,000 (95% CI = 1/10,000, 4/10,000) live births. Five of these cases had other associated MCM, with malformations of the circulatory system ((2); both of which were complex congenital heart diseases)), Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal and Radial anomalies, and Limb defect (VACTREL) association (1), multiple congenital malformations (1), and polyslpenia (1).
Table 1: Pattern of major congenital malformations of the gastrointestinal tract among newborns in Barbados, 1993 to 2012


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The association between the selected maternal and neonatal characteristics and the prevalence of MCMGIT is shown in [Table 2]. The geographical location within the country was not analyzed on account of the very small area of the country and the small numbers of population residing outside of the area surrounding the Bridgetown capital. Although there were ethnic minorities like Caucasians and east Indians, the number was too small to analyze. Also, the small annual number of MCMGIT did not permit analysis of the association between the aforementioned characteristics and the prevalence of the individual type of gastrointestinal malformation. The prevalence rates were similar among babies delivered by different modes of delivery. The difference in the prevalence of MCMGIT among preterm babies and term babies as well as low birth weight babies and normal birth weight babies was statistically significant. The male to female ratio was 7:4.5.
Table 2: Characteristics of newborns with major congenital malformations of the gastrointestinal tract in Barbados, 1993 to 2012


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The time trend in the prevalence of MCMGIT is shown in [Figure 1]. The overall prevalence of congenital malformations of the gastrointestinal tract increased from 4.46 per 10,000 live births during 1993-1997 to 10.50 per 10,000 live births during the 2008-2012, and this was statistically significant (P = 0.0001). The prevalence of tracheoesophageal fistula (TOF) was constant throughout the 20-year study period. The prevalence of absence, atresia or stenosis of the small intestine increased from 0.64 per 10,000 live births during 1993-1997 to 5.25 per 10,000 live births during 2008-2012 (P < 0.0001). The small annual number of MCMGIT did not permit analysis of the data for seasonality or seasonal clustering.
Figure 1: Time trend in the prevalence of major congenital malformations of the gastrointestinal tract among newborns in Barbados, 1993 to 2012

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The 46 cases of MCMGIT accounted for 0.4% (95% CI = 0.3%, 0.5%) of all (n = 11842) NICU admissions and 12.5% (95% CI = 9.4%, 16.5%) of all admissions from all MCMs during the period of reporting. The average stay at the NICU, for babies with MCMGIT, was 16 days (Range 1 day to 48 days). There were seven (15.2%; 95% CI = 6.8%, 29.5%) deaths among babies with MCMGIT. Four deaths (Case Fatality Rate = 30.8%) occurred from among the 13 cases of tracheoesophageal fistula. Two (one had VACTREL anomaly with heart disease and the other had an isolated complex congenital heart disease) had other associated MCM. Two deaths (Case Fatality Rate = 13.3%) occurred among the 15 babies with small bowel obstruction and both had other associated MCM (one had Trisomy 21 with an atrioventricular septal defect and the other had multiple congenital anomalies). Overall 1.1% (95% CI = 0.5%, 2.4%) of all neonatal deaths were attributed to MCMGIT. MCMGIT accounted for 8.1% (95%CI = 3.6%, 16.6%) of all deaths from major malformations detected during the early neonatal period. Among the 13 cases of tracheoesophageal fistula (TEF), the mortality rate was 30.8% (95% CI = 10.4%, 61.1%).


  Discussion Top


Although efforts are being made to standardize information on congenital malformations, it is widely recognized that the reported prevalence of congenital malformations have shown a wide variation and not all of these are true variations. Some of the recognized factors responsible for variation in the reported prevalence include the definition of congenital malformation and the method of their classification, the study setting - hospital-based or population-based studies, duration of the study period, and the longitudinal observation period in the study. [23],[24] In this first long-term comprehensive report of MCMGIT from the Caribbean region, the population-based data and the use of the ICD10 classification should provide good baseline information for regional and international comparisons.

The overall prevalence of MCMGIT in this English Caribbean country, over the 20-year period, was 7.3 per 10,000 live births. The reported prevalence of MCMGIT from other regions of the world varies between 1 and 15 per 10,000 live births. [1],[2],[7],[9],[10],[24],[25] The reported prevalence from the countries in the Middle East [10],[25] and those from the Europe [2],[9],[26],[27],[28] varies between 10 and 15 per 10,000 live births. Countries from central Asia and south-east Asia have reported a prevalence rate of 5 to 10 per 10,000 live births. [29],[30] Countries from Africa have reported a prevalence rate of MCMGIT from one to five per 10,000 live births. [1],[31] The reported prevalence of MCMGIT from around the world varies from as low as 3.3 per 10,000 live births from Egypt to as high as 15.3 per 10,000 live births in Denmark. [1],[9] However, interpretations and comparisons of these results are often difficult due to the differences in case ascertainment and study design. More recent studies from North America have also reported a lower prevalence rate. [32] There is no published report on MCMGIT from the Caribbean region available for comparison.

The proportion of MCM that originated in the gastrointestinal tract also showed a wide variation among different countries, but was around 5 to 10% in most reports. [1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12] In a hospital-based report from Egypt the proportion of MCM that was MCMGIT was as low as 1.1% [1] and a hospital-based study from Nigeria reported a proportion as high as 45.2%. [33] The proportion (12.5%) of all MCMs detected at birth and that involved the gastrointestinal tract in this study were on the higher side compared to those reported from some of the Asian, African, and European countries. [1],[2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12] Once again differences in the study design did not allow for a fair comparison. A long-term study with a study design similar to ours, from Glasgow in UK, reported that over 7% of all major malformations were those of the digestive system. [3] One of the main findings of the present study was a significantly increasing trend recorded in the overall prevalence of MCMGIT. This increase in the overall prevalence was largely contributed by the rising prevalence of small bowel malformations, as noted below. A similarly increasing trend was also reported from Finland. [28] In this population, the digestive system, excluding the orofacial region, was the third most common system to be involved in major congenital malformations detected in the newborn period. [34]

Congenital absence, atresia, and stenosis of the small intestine was the most common (32.6%) MCMGIT seen in this study. This was an interesting observation, as a majority of the previous studies from Europe and Asia had reported a lower proportion of small bowel obstruction from among all the MCMGITs. [9],[10],[11],[12],[13],[15] It accounted for nearly a third of all the major digestive system malformations in the newborns, with a prevalence of 2.4 per 10,000 live births. A significantly increasing trend was noted in the prevalence of small bowel malformations. A similar observation was made in a 10-year study from Finland, in the 1970s. [28] Given the fact that the obstructive lesions of the intestine invariably manifested during the first few days of life and they could be reliably diagnosed with simple imaging techniques and consistent and fairly reliable methods of data collection over the entire study period, it was reasonable to stress that the higher incidence of malformations of the small bowel and its increasing prevalence rate was a true reflection of its epidemiology in this population. This increasing prevalence was also the main contributor to the overall increasing prevalence of all major congenital malformations of the digestive system. Esophageal atresia with or without fistula was the second most common (28.3%) MCMGIT in the newborns in this series. The prevalence (2.06 per 10,000 live births) in this population was similar to that reported in literature. [15],[16],[17] Less than a third of the cases of tracheoesophageal fistula seen in this series had other associated congenital malformations. There was no significant time trend seen over the study period. None of our cases were diagnosed in the antenatal period.

The overall case fatality rate of 15.2%, for newborns with MCMGIT, was similar to that reported from Saudi Arabia. [10] The mortality rate (30.08%) for babies with esophageal atresia in this study was higher than that reported in recent years from other developed countries. [15],[16],[17] Two cases of death had other associated congenital heart disease. The mortality rate in EA/TEF was reported to vary widely depending on the associated malformation. [15],[16],[17] Studies from developed countries reported mortality less than 10% for isolated cases of EA/TEF and a mortality as high as 50% for cases with other associated malformations. [17],[35] However, a more recent study reported an overall mortality of less than 5%. [36] The case fatality rate (13.3%) for small bowel obstruction, in this series, which occurred in babies with other associated congenital malformations, was comparable to those reported in literature. [28],[37]

 
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