Patofisiologi dan Faktor Predisposisi yang Berhubungan dengan Omphalocele
DOI:
https://doi.org/10.35790/msj.v5i1.45295Abstract
Abstract: Omphalocele is one of the most common congenital abnormalities of the abdominal wall. In various countries, the incidence of omphalocele ranges from 1-3.8 per 10,000 pregnancies. This study aimed to determine the pathophysiology and predisposing factors associated with omphalocele. This was a literature review study. Literatures were obtained through several databases: Pubmed, ClinicalKey, and Google Scholar. The results showed 22 articles that fulfilled the inclusion criteria. The pathophysiology of omphalocele was when the abdominal organs herniate for an extended period of time, in results failing the intra-abdominal organs from returning to their normal position. Predisposing factors associated with omphalocele were divided into two aspects namely maternal and neonatal. In conclusion, the pathophysiology of omphalocele is still the same from year to year with the existing theory that there has not been a shift or discoveries. In contrast, for predisposing factors, several studies have reported new aspects of maternal and neonates about factors related to omphalocele.
Keywords: omphalocele; pathophysiology; predisposing factors
Abstrak: Omphalocele adalah salah satu kelainan kongenital dinding abdomen yang paling umum terjadi, Insiden omphalocele berkisar pada 1-3,8 per 10.000 kehamilan di berbagai negara. Penelitian ini bertujuan untuk mengetahui patofisiologi dan faktor predisposisi yang berhubungan dengan omphalocele. Jenis penelitian ialah suatu literature review. Literatur diperoleh melalui beberapa basis data yaitu Pubmed, ClinicalKey, dan Google Scholar. Hasil penelitian mendapatkan 22 artikel yang sesuai dengan kriteria inklusi. Patofisiologi omphalocele yaitu ketika terjadi herniasi fisiologis berkepanjangan dari organ abdomen sehingga terjadi kegagalan organ intraabdomen untuk kembali ke posisi normalnya. Faktor predisposisi yang berhubungan dengan omphalocele terbagi atas dua aspek yaitu maternal dan neonatus. Simpulan penelitian ini ialah patofisiologi dari omphalocele masih sama dari tahun ke tahun dengan teori yang ada dimana belum terjadi pergeseran atau penemuan baru sedangkan untuk faktor predisposisinya terdapat beberapa penelitian yang melaporkan hal baru terkait aspek maternal dan neonatus yang berhubungan dengan omphalocele.
Kata kunci: omphalocele; patofisiologi; faktor predisposisi
References
Hackam DJ, Grikscheit T, Wang K, Upperman J, Ford HR. Pediatric surgery: gastroschisis (Chapter 39). In: Brunicardi FC, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, et al, editors. Schwartz’s Principle of Surgery (10th ed). Los Angeles: McGraw Hill; 2015. p. 1632.
Chung DH. Pediatric surgery (Chapter 67). In: Townsend CM, Beauchamp RD, Evers BM, Mattox KL. Sabiston Textbook of Surgery (21st ed). Canada: Elsevier; 2022. p. 1867.
Klein MD. Congenital defects of the abdominal wall (Chapter 75). In: Coran AD, Adzick NS, Krummel TM, Laberge JM, Shamberger RC, Caldamone AA. Pediatric Surgery (7th ed). Philadelphia: Elsevier; 2012. p. 979-81.
Sadler, Thomas W, Langman J. Third to eighth week: the embryonic period (Chapter 5). In: Langman's Medical Embryology (12th ed). Philadelphia: Lippincott Williams; 2012. p. 87-114.
Fogelström A, Caldeman C, Oddsberg J, Löf Granström A, Mesas Burgos C. Omphalocele: national current birth prevalence and survival. Pediatr Surg Int. 2021;37(11):1515-20.
Kemenkes RI. Laporan Riset Kesehatan Dasar/RISKESDAS 2018. Jakarta. Badan Penelitian dan Pengembangan Keseharan Kementerian Kesehatan RI; 2018.
Bass LM, Wershil BK. Anatomy, histology, embryology, and developmental anomalies of the small and large intestine (Chapter 98). In: Sleisenger and Fordtran’s Gastrointestinal and Liver Disease (11th ed). Michigan: Elsevier; 2021. p. 1551-79.
Khalil BA, Losty PD. Abdominal wall defects (Chapter 46). In: Losty PD, Flake AW, Rintala RJ, Hutson JM, Iwai N. Rickham’s Neonatal Surgery. London: Springer-Verlag; 2018. p. 890-1.
Shi X, Tang H, Lu J, Yang X, Ding H, Wu J. Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing. Ann Med. 2021;53(1):1285-91.
Conner P, Vejde JH, Burgos CM. Accuracy and impact of prenatal diagnosis in infants with Omphalocele. Pediatr Surg Int. 2018;34(6):629-633.
Corey KM, Hornik CP, Laughon MM, McHutchison K, Clark RH, P Brian Smith PB. Frequency of anomalies and hospital outcomes in infants with gastrochisis and Omphalocele. Early Hum Dev. 2014;90(8):421-4.
Benjamin B, Wilson GN. Anomalies associated with gastroschisis and omphalocele: analysis of 2825 cases from the Texas Birth Defects Registry. J Pediatr Surg. 2014;49(4):514-9.
Emer CS, Duque JA, Müller AL, Gus R, Sanseverino MT, da Silva AA, et al. Prevalência das malformações congênitas identificadas em fetos com trissomia dos cromossomos 13, 18 e 21 [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy]. Rev Bras Ginecol Obstet. 2015;37(7):333-8.
Danzer E, Hedrick HL, Rintoul NE, Siegle J, Adzick NS, Panitch HB. Assessment of early pulmonary function abnormalities in giant Omphalocele survivors. J Pediatr Surg. 2012;47(10):1811-20.
Abdelhafeez AH, Schultz JA, Ertl A, Cassidy LD, Wagner AJ. The risk of volvulus in abdominal wall defects. J Pediatr Surg. 2015;50(4):570-2.
Raymond SL, Downard CD, St Peter SD, Baerg J, Qureshi FG, Bruch SW, et al. Outcomes in omphalocele correlate with size of defect. J Pediatr Surg. 2019;54(8):1546-50.
Raitio A, Tauriainen A, Syvänen J, Kemppainen T, Löyttyniemi E, Sankilampi U, et al. Omphalocele in Finland from 1993 to 2014: trends, prevalence, mortality, and associated malformations-a population-based study. Eur J Pediatr Surg. 2021;31(2):172-6.
Elhedai H, Arul GS, Yong S, Nagakumar P, Kanthimathinathan HK, Jester I, et al. Outcomes of patients with omphalocele and associated congenital heart diseases. Pediatr Surg Int. 2022;39(1):12.
Feldkamp ML, Srisukhumbowornchai S, Romitti PA, Olney RS, Richaardson SD, Botto LD, et al. Self-reported maternal cigarette smoke exposure during the periconceptional period and the risk for omphalocoele. Paediatr Perinat Epidemiol. 2014;28(1):67-73.
Reefhuis J, Devine O, Friedman JM, Louik C, Honein MA; National Birth Defects Prevention Study. Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports. BMJ. 2015;351:h3190.
Tinker SC, Gilboa SM, Moore CA, Waller DK, Simeone RM, Kim SY, et al. National Birth Defects Prevention Study. Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997-2011. Birth Defects Res. 2021;113(14):1084-97
Weber KA, Yang W, Carmichael SL, Collins RD, Luben TJ, Desrosiers TA, et al. Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. Environ Res. 2023;216(Pt 3):114760.
Palmsten K, Suhl J, Conway KM, Kharbanda EO, Scholz TD, Ailes EC, et al. Influenza vaccination during pregnancy and risk of selected major structural noncardiac birth defects, National Birth Defects Prevention Study 2006-2011. Pharmacoepidemiol Drug Saf. 2022;31(8):851-62.
Hibbs SD, Bennett A, Castro Y, Rankin KM, Collins JW. Abdominal wall defects among Mexican American infants: the effect of maternal nativity. Ethn Dis. 2016;26(2):165-70.
Li X, Lyu Y, Gao M, Yan X, Meng C, Zhang K, et al. Genetic analysis of two pediatric patients with Beckwith-Wiedemann syndrome. Chinese Journal of Medical Genetics. 2017;34(6):831-4.
Hwang P-J, Kousseff BG. Omphalocele and gastroschisis: an 18-year review study. Genet Med. 2004;6(4):232-6. Doi: 10.1097/01.gim.0000133919.68912.a3.
Nembhard WN, Bergman JEH, Politis MD, Arteaga-Vázquez Y, Bermejo-Sánchez E, Canfield MA, et al. A multi-country study of prevalence and early childhood mortality among children with omphalocele. Birth Defects Res. 2020;112(20):1787-801.
Stallings EB, Isenburg JL, Short TD, Heinke D, Kirby RS, Romitti PA, et al. Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects. Birth Defects Res. 2019;111(18):1436-47.
Bugge M, Drachmann G, Kern P, Budtz-Jørgensen E, Eiberg H, Olsen B, et al. Abdominal wall defects in Greenland 1989-2015. Birth Defects Res. 2017;109(11):836-42.
Oluwafemi OO, Benjamin RH, Navarro Sanchez ML, Scheuerle AE, Schaaf CP, Mitchell LE, et al. Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. Am J Med Genet A. 2020;182(11):2581-93.
Hijkoop A, Peters NCJ, Lechner RL, van Bever Y, van Gils-Frijters APJM, et al. Omphalocele: from diagnosis to growth and development at 2 years of age. Arch Dis Child Fetal Neonatal Ed. 2019;104(1):F18-F23.
Bruch SW, Langer JC. Anterior abdominal wall defects (Chapter 78). In: Puri P. Newborn Surgery (4th ed). Ireland: Taylor & Francis Group; 2018. p. 781.
Islam S. Congenital abdominal wall defects: gastroschisis and omphalocele (Chapter 48). In: Holcomb III GW, Murphy JP, Peter SD St. Holcomb and Ashcraft’s Pediatric Surgery (7th ed). Philadelphia: Elsevier; 2020. p. 771-6.
Zahouani T, Mendez MD. Omphalocele. StatPearls [Internet]. 2022 Jul 5 [cited 2022 Oct 13]; Available from: https://www.ncbi.nlm.nih.gov/books/NBK519010/.
Watanabe S, Suzuki T, Hara F, Yasui T, Uga N, Naoe A, et al. Omphalocele and Gastroschisis in newborns: over 16 experiences from a single clinic. J Neonatal Surg. 2017;6(2):27.
Peters NC, Visser ‘t Hooft ME, Ursem NT, Eggink AJ, Wijnen RMH, Tibboel D, et al. The relation between viscera-abdominal disproportion and type of Omphalocele closure. Eur J Obstet Gynecol Reprod Biol. 2014;181:294-9.
The Centre of the International Clearinghouse for Birth Defects Surveillance and Research. Annual Report 2014:10.
Kirby RS. The prevalence of selected major birth defects in the United States. Semin Perinatol. 2017;41(6):338-44.
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