Eur J Pediatr Surg 2025; 35(03): 208-218
DOI: 10.1055/a-2471-6435
Original Article

Global Prevalence of Duodenal Atresia in Trisomy 21: A Systematic Review and Meta-Analysis

1   School of Medicine, The University of Jordan, Amman, Jordan
,
Dina A. Al-Nusair
1   School of Medicine, The University of Jordan, Amman, Jordan
,
Abdulrhman Alhajahjeh
1   School of Medicine, The University of Jordan, Amman, Jordan
,
Mohammad Yousef Al-Awadi
1   School of Medicine, The University of Jordan, Amman, Jordan
,
Emad Aborajooh
2   Department of Surgery and Anesthesia, School of Medicine, Mu'tah University, Mu'tah, Karak, Jordan
› Author Affiliations

Abstract

Introduction Duodenal atresia is one of significant causes of neonatal intestinal obstruction. It often co-occurs with Down syndrome. This study is conducted to estimate the global prevalence of duodenal atresia in Down syndrome patients and to investigate associated factors.

Methods Conducting a systematic review with meta-analysis of 18 eligible studies reporting duodenal atresia prevalence in pediatric Down syndrome patients. Study quality is assessed using the Newcastle-Ottawa Scale. The subgroup analysis on region, study quality, publication year, and design is addressed. Gender-specific prevalence rates are examined.

Results The pooled prevalence of duodenal atresia in Down syndrome is 3.0%, with significant heterogeneity. The Middle East reports a higher prevalence of 6.0%, while Latin America, India, and Canada exhibit a lower prevalence of 1.0%. High-quality studies demonstrate 2% prevalence, while moderate-quality studies report 4.0%. Gender analysis indicates a similar incidence for females and males at 3.0%. Prevalence varies with study design: case-control studies report 4.0%, cross-sectional studies report 2.0%, and prospective cohort studies report 2.0%.

Conclusions Duodenal atresia is common in Down syndrome patients, affecting 3.0% of the patients worldwide. Regional variations exist, necessitating further investigation. Gender does not significantly impact prevalence. This study highlights the need for region-specific research to enhance clinical decision-making for individuals with Down syndrome and duodenal atresia.

Supplementary Material



Publication History

Received: 14 July 2024

Accepted: 14 November 2024

Article published online:
11 December 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 
  • References

  • 1 Best KE, Tennant PWG, Addor M-C. et al. Epidemiology of small intestinal atresia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed 2012; 97 (05) F353-F358
  • 2 Choudhry MS, Rahman N, Boyd P, Lakhoo K. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int 2009; 25 (08) 727-730
  • 3 Kay S, Yoder S, Rothenberg S. Laparoscopic duodenoduodenostomy in the neonate. J Pediatr Surg 2009; 44 (05) 906-908
  • 4 Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet 2009; 126 (01) 195-214
  • 5 Weijerman ME, van Furth AM, Vonk Noordegraaf A, van Wouwe JP, Broers CJ, Gemke RJ. Prevalence, neonatal characteristics, and first-year mortality of Down syndrome: a national study. J Pediatr 2008; 152 (01) 15-19
  • 6 Verma RS, Huq A. Sex ratio of children with trisomy 21 or Down syndrome. Cytobios 1987; 51 (206-207): 145-148
  • 7 Bermudez BEBV, de Oliveira CM, de Lima Cat MN, Magdalena NIR, Celli A. Gastrointestinal disorders in Down syndrome. Am J Med Genet A 2019; 179 (08) 1426-1431
  • 8 Buchin PJ, Levy JS, Schullinger JN. Down's syndrome and the gastrointestinal tract. J Clin Gastroenterol 1986; 8 (02) 111-114
  • 9 Moher D, Liberati A, Tetzlaff J, Altman DG. PRISMA Group. Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med 2009; 6 (07) e1000097
  • 10 Stroup DF, Berlin JA, Morton SC. et al. Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 2000; 283 (15) 2008-2012
  • 11 Wells GA, Shea B, Higgins JP, Sterne J, Tugwell P, Reeves BC. Checklists of methodological issues for review authors to consider when including non-randomized studies in systematic reviews. Res Synth Methods 2013; 4 (01) 63-77
  • 12 Higgins JPT, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med 2002; 21 (11) 1539-1558
  • 13 Barendregt JJ, Doi SA, Lee YY, Norman RE, Vos T. Meta-analysis of prevalence. J Epidemiol Community Health 2013; 67 (11) 974-978
  • 14 Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ 1997; 315 (7109) 629-634
  • 15 Mokhtar MM, Abdel-Fattah M. Major birth defects among infants with Down syndrome in Alexandria, Egypt (1995-2000): trends and risk factors. East Mediterr Health J 2001; 7 (03) 441-451
  • 16 Torfs CP, Christianson RE. Maternal risk factors and major associated defects in infants with Down syndrome. Epidemiology 1999; 10 (03) 264-270
  • 17 Morris JK, Garne E, Wellesley D. et al. Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study. Am J Med Genet A 2014; 164A (12) 2979-2986
  • 18 Freeman SB, Torfs CP, Romitti PA. et al. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin Genet 2009; 75 (02) 180-184
  • 19 Rotmensch S, Liberati M, Bronshtein M. et al. Prenatal sonographic findings in 187 fetuses with Down syndrome. Prenat Diagn 1997; 17 (11) 1001-1009
  • 20 Källén B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet 1996; 65 (02) 160-166
  • 21 Khoury MJ, Erickson JD. Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?. Am J Med Genet 1992; 43 (06) 1016-1022
  • 22 Jaruratanasirikul S, Limpitikul W, Dissaneevate P, Booncharoen P, Tantichantakarun P. Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand. World J Pediatr 2017; 13 (02) 152-157
  • 23 Rankin J, Tennant PW, Bythell M, Pearce MS. Predictors of survival in children born with Down syndrome: a registry-based study. Pediatrics 2012; 129 (06) e1373-e1381
  • 24 Rowe RD, Uchida IA. Cardiac malformation in mongolism: a prospective study of 184 mongoloid children. Am J Med 1961; 31: 726-735
  • 25 Stoll C, Dott B, Alembik Y, Roth MP. Associated congenital anomalies among cases with Down syndrome. Eur J Med Genet 2015; 58 (12) 674-680
  • 26 Abbag FI. Congenital heart diseases and other major anomalies in patients with Down syndrome. Saudi Med J 2006; 27 (02) 219-222
  • 27 Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res 2004; 35 (01) 31-35
  • 28 Jaruratanasirikul S, Soponthammarak S, Chanvitan P. et al. Clinical abnormalities, intervention program, and school attendance of Down syndrome children in southern Thailand. J Med Assoc Thai 2004; 87 (10) 1199-1204
  • 29 Frid C, Drott P, Lundell B, Rasmussen F, Annerén G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res 1999; 43 (Pt 3): 234-241
  • 30 Torfs CP, Christianson RE. Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 1998; 77 (05) 431-438
  • 31 Orthmann Bless D, Hofmann V. Abortion in women with Down syndrome. J Intellect Disabil Res 2020; 64 (09) 690-699
  • 32 Sega AG, Meckmongkol T, Westmoreland T. Delayed presentation of duodenal atresia in a male with trisomy 21. Cureus 2022; 14 (01) e21700
  • 33 Boyd PA, Haeusler M, Barisic I, Loane M, Garne E, Dolk H. Paper 1: the EUROCAT network—organization and processes. Birth Defects Res A Clin Mol Teratol 2011; 91 (Suppl. 01) S2-S15
  • 34 Harris JA. California birth defects monitoring program. West J Med 1986; 145 (02) 265