Prevalence and survival of patients with anorectal malformations: A population-based study

Cassina, Matteo; Leon, Francesco Fascetti; Ruol, Michele; Chiarenza, Salvatore Fabio; Scirè, G.; Midrio, Paola; Clementi, Maurizio; Gamba, Piergiorgio

doi:10.1016/j.jpedsurg.2019.03.004

Cited by 30 publications

(36 citation statements)

References 19 publications

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“…Further detail on the sources of case ascertainment and death identification and the description of the comparison group, if any, are given in S4 Table. Nine studies analysed long-term survival of all congenital anomalies combined: seven with [6,8,15,17,[40][41][42] and two without [7,43] stratification by congenital anomaly group/subtype (Table 1). Other studies (n = 46) focused on specific groups or subtypes of congenital anomalies: the central nervous system (n = 5 [44][45][46][47][48][49]), including spina bifida [44][45][46]48,49] and encephaloele [44,47]; orofacial clefts (n = 1 [16]); anomalies of the digestive system (n = 22), including oesophageal atresia [9,50,51], anorectal malformations [52], congenital diaphragmatic hernia (CDH) [18,23,51,53,54], biliary atresia [36][37][38][39][55][56][57][58][59][60][61]…”

Section: Search Resultsmentioning

confidence: 99%

“…Other studies (n = 46) focused on specific groups or subtypes of congenital anomalies: the central nervous system (n = 5 [44][45][46][47][48][49]), including spina bifida [44][45][46]48,49] and encephaloele [44,47]; orofacial clefts (n = 1 [16]); anomalies of the digestive system (n = 22), including oesophageal atresia [9,50,51], anorectal malformations [52], congenital diaphragmatic hernia (CDH) [18,23,51,53,54], biliary atresia [36][37][38][39][55][56][57][58][59][60][61][62][63][64], and Hirschsprung disease [24]; abdominal wall defects (n = 1 [21]); chromosomal anomalies (n = 12), including trisomy 21 [14,19,22,[65][66][67][68][69]…”

Section: Search Resultsmentioning

confidence: 99%

“…Nine studies analysed long-term survival of all congenital anomalies combined: seven with [ 6 , 8 , 15 , 17 , 40 – 42 ] and two without [ 7 , 43 ] stratification by congenital anomaly group/subtype ( Table 1 ). Other studies ( n = 46) focused on specific groups or subtypes of congenital anomalies: the central nervous system ( n = 5 [ 44 – 49 ]), including spina bifida [ 44 – 46 , 48 , 49 ] and encephaloсele [ 44 , 47 ]; orofacial clefts ( n = 1 [ 16 ]); anomalies of the digestive system ( n = 22), including oesophageal atresia [ 9 , 50 , 51 ], anorectal malformations [ 52 ], congenital diaphragmatic hernia (CDH) [ 18 , 23 , 51 , 53 , 54 ], biliary atresia [ 36 – 39 , 55 – 64 ], and Hirschsprung disease [ 24 ]; abdominal wall defects ( n = 1 [ 21 ]); chromosomal anomalies ( n = 12), including trisomy 21 [ 14 , 19 , 22 , 65 – 69 , 70 , 71 ], trisomy 13 [ 25 , 72 ], and trisomy 18 [ 25 , 72 ]; skeletal dysplasias ( n = 2 [ 13 , …”

Section: Resultsmentioning

confidence: 99%

“…The pooled survival estimates predicted for infants born in 2020 were 93%, 93%, 92%, and 92% at ages 5, 10, 20, and 25 years, respectively (Table 3 and Fig 3). The survival estimates for children with anorectal malformations and for those with Hirschsprung disease were reported in four [15,40,41,52] and three studies [15,24,42] with survival ranging between 86% and 97% and between 93% and 98%, respectively ( Table 2).…”

Section: Anomalies Of the Digestive Systemmentioning

confidence: 99%

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Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

et al. 2020

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Background Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing. Although infant survival of children born with congenital anomalies has improved for many anomaly types in recent decades, there is less evidence on survival beyond infancy. We aimed to systematically review, summarise, and quantify the existing population-based data on long-term survival of individuals born with specific major congenital anomalies and examine the factors associated with survival. Methods and findings Seven electronic databases (Medline, Embase, Scopus, PsycINFO, CINAHL, ProQuest Natural, and Biological Science Collections), reference lists, and citations of the included articles for studies published 1 January 1995 to 30 April 2020 were searched. Screening for eligibility, data extraction, and quality appraisal were performed in duplicate. We included original population-based studies that reported long-term survival (beyond 1 year of life) of children born with a major congenital anomaly with the follow-up starting from birth that were published in the English language as peer-reviewed papers. Studies on congenital heart defects (CHDs) were excluded because of a recent systematic review of population-based studies of CHD survival. Meta-analysis was performed to pool survival estimates, accounting for trends over time. Of 10,888 identified articles, 55 (n = 367,801 live births) met the inclusion criteria and were summarised narratively, 41 studies (n = 54,676) investigating eight congenital anomaly types (

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Section: Search Resultsmentioning

confidence: 99%

Section: Search Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Anomalies Of the Digestive Systemmentioning

confidence: 99%

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Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

et al. 2020

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“…The estimated incidence of ARM and HD is 1.0 to 1.5 in 5,000 and 1.0 in 5,000 live births, respectively. [1][2][3] Despite the evolutions in surgical techniques during the last century, postoperative outcomes such as poor bowel function and social anxiety significantly impact short-and long-term health-related quality of life (HrQoL) of affected patients and the quality of life (QoL) of their families. [4][5][6][7] According to the World Health Organization, QoL implies the individual state of physical, psychological, and social wellbeing and not merely the absence of disease.…”

Section: Introductionmentioning

confidence: 99%

Health-Related Quality of Life and Psychosocial Morbidity in Anorectal Malformation and Hirschsprung's Disease

Lacher

Quitmann

et al. 2020

Eur J Pediatr Surg

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Anorectal malformation (ARM) and Hirschsprung's disease (HD) are the most common congenital colorectal anomalies. Despite advances in surgical techniques and improvements in postoperative clinical care, short- and long-term physical and psychosocial morbidity of these patients remains high. This review outlines the current literature on the physical and psychosocial aspects of health-related quality of life (HrQoL) and its confounders in patients with ARM/HD. Moreover, important coping strategies are summarized to further improve HrQoL of ARM/HD patients and their families.

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Prevalence and mortality among children with anorectal malformation: A multi‐country analysis

Kancherla

Sundar

Tandaki

et al. 2022

Birth Defects Research

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Purpose We examined the total prevalence, trends in prevalence, and age‐specific mortality among individuals with anorectal malformation (ARM) Methods We conducted a retrospective cohort study using data from 24 population‐ and hospital‐based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program‐specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age‐specific proportions of deaths, stratified by case status Results The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974–2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively Conclusions ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

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Prevalence and survival of patients with anorectal malformations: A population-based study

Cited by 30 publications

References 19 publications

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies

Health-Related Quality of Life and Psychosocial Morbidity in Anorectal Malformation and Hirschsprung's Disease

Prevalence and mortality among children with anorectal malformation: A multi‐country analysis

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