Urođene anomalije: pojava i potencijalni faktori rizika
Sažetak
Uvod/Cilj. Urođene malformacije i dalje predstavljaju jedan od najvažnijih uzroka prenatalne i neonatalne smrti. Cilj rada bio je analiza pojave ishoda različitih tipova kongenitalnih anomalija. Metode. Studijom su bile obuhvaćene sve trudnice koje su u periodu 1. januar 2008–31. decembar 2017. godine bile upućene na Kliniku za ginekologiju i akušerstvo Kliničkog centra Srbije zbog prenatalno dijagnostikovanih kongenitalnih fetalnih anomalija. Po prijemu na našu Kliniku uzimani su detaljni opšti medicinski i akušerski podaci od svake pacijentkinje. Sve trudnice su podvrgnute genetskom testiranju. Ultrazvuk i magnetna rezonanca su bili dijagnostičke metode za potvrdu malformacija fetusa. Rezultati. Studijom su obuhvaćene 773 trudnice koje su imale od 18 do 46 godina života. Od registrovanih devet različitih grupa fetalnih anomalija/malformacija, najčešcće su bile malformacije centralnog nervnog sistema, dok je većina fetusa imala više kombinovanih anomalija. Genetički uzrok kongenitalnih anomalija bio je prisutan u 25,2% trudnoća. Medicinski prekid trudnocće obavljen je u 71,8% slučajeva. Samo 10,2% trudnoća je završeno u terminu. Najbolji ishod za decu dobijen je u slučajevima gastrointestinalnih anomalija (52% živorođenih). Nasuprot tome, samo jedno dete sa malformacijama vrata i grudnog koša se moglo spasiti. Prema logističkoj regresiji najvažniji prediktor da dete ima kombinovane višestruke anomalije je bila starost majke, dok je prediktor anomalija centralnog nervnog sistema bio gestacijski dijabetes. Značajan prediktor genetskih anomalija bila je starost majke. Zaključak. U našem uzorku najčešcće su bile neurološke kongenitalne anomalije, iako su registrovane abnormalnosti svih organskih sistema. Većina trudnoća se morala prekinuti zbog kombinovanih višestrukih anomalija uzrokovanih genetskim poremecćajima. Starije životno doba majke i dijabetes mogu ukazivati na povišen rizik od fetalnih malformacija.
Reference
Boyle B, Addor MC, Arriola L, Barisic I, Bianchi F, Csaky-Szunyogh M, et al. Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data. Arch Dis Child Fetal Neonatal Ed 2018; 103(1): F22–F28.
Oliveira CI, Fett-Conte AC. Birth defects: risk factors and con-sequences. J Pediatr Genet 2013; 2(2): 85–90.
World Health Organization (WHO). Congenital anomalies. Fact sheet; 2016 Available from: http://www.who.int/mediacentre/factsheets/fs370/en.
European Surveillance of Congenital Anomalies (EUROCAT). Re-ports and Papers. Available from:
http://www.eurocat-network.eu/homepage
Gazibara T, Kisic-Tepavcevic D, Dotlic J, Matejic B, Grgurevic A, Pekmezovic T. Patterns of infant mortality from 1993 to 2007 in Belgrade (Serbia). Matern Child Health J 2013; 17(4): 624–31.
Francine R, Pascale S, Aline H. Congenital anomalies: preva-lence and risk factors. Univ J Public Health 2014; 2(2): 58–63.
Garne E, Khoshnood B, Loane M, Boyd P, Dolk H; EUROCAT Working Group. Termination of pregnancy for fetal anomaly af-ter 23 weeks of gestation: a European register-based study. BJOG 2010; 117(6): 660–6.
Aloui M, Nasri K, Ben Jemaa N, Ben Hamida AM, Masmoudi A, Gaigi SS, et al. Congenital anomalies in Tunisia: Frequency and risk factors. J Gynecol Obstet Hum Reprod 2017; 46(8): 651–5.
Kirby RS. The prevalence of selected major birth defects in the United States. Semin Perinatol 2017; 41(6): 338–44.
St Louis AM, Kim K, Browne ML, Liu G, Liberman RF, Nembhard WN, et al. Prevalence trends of selected major birth defects: A multi-state population-based retrospective study, United States, 1999 to 2007. Birth Defects Res 2017; 109(18): 1442–50.
Nasri K, Ben Fradj MK, Hamdi Th, Aloui M, Ben Jemaa N, Nahdi S, et al. Epidemiology of neural tube defect subtypes in Tunisia, 1991-2011. Pathol Res Pract 2014; 210(12): 944–52.
Brodwall K, Greve G, Leirgul E, Klungsoyr K, Holmstrom H, Voll-set SE, et al. The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated con-genital heart defects and extracardiac malformations. Acta Paediatr 2018; 107(5): 845–53.
Sarkar S, Patra C, Dasgupta MK, Nayek K, Karmakar PR. Preva-lence of congenital anomalies in neonates and associated risk factors in a tertiary care hospital in Eastern India. J Clin Neo-natol 2013; 2(5): 131–4.
Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010; 686: 349–64.
WangY, Liu G, Canfield MA, Mai CT, Gilboa SM, Meyer RE, et al. National Birth Defects Prevention Network. Racial/ethnic differences in survival of United States children with birth de-fects: a population-based study J Pediatr 2015; 166(4): 819–26.e1–2.
Pangkanon S, Sawasdivorn S, Kuptanon C, Chotigeat U, Vandepitte W. Establishing of National Birth Defects Registry in Thai-land. J Med Assoc Thai 2014; 97 Suppl 6: S182–8.
Sipek A, Gregor V, Sipek A Jr, Hudakova J, Horacek J, Klaschka J, et al. Incidence of congenital heart defects in the Czech Re-public-current data. Ceska Gynekol 2010; 75(3): 221–42. (Czech)
Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, et al. Consanguinity, endogamy, and genetic disorders in Tunisia. J Community Genet 2013; 4(2): 273–84.
Taruscio D, Baldi F, Carbone P, Neville AJ, Rezza G, Rizzo C, et al. Primary Prevention of Congenital Anomalies: Special Fo-cus on Environmental Chemicals and other Toxicants, Mater-nal Health and Health Services and Infectious Diseases. Adv Exp Med Biol 2017; 1031: 301–22.
Garcia-Ferreyra J, Hilario R, Duenas J. High percentages of em-bryos with 21, 18 or 13 trisomy are related to advanced pater-nal age in donor egg cycles. JBRA Assist Reprod 2018; 22(1): 26–34.
Eriksen NB, Damm P, Mathiesen ER, Ringholm L. The preva-lence of congenital malformations is still higher in pregnant women with pregestational diabetes despite near-normal HbA1c: a literature review. J Matern Fetal Neonatal Med 2017; 27: 1–5.