Congenital anomalies: occurrence and potential risk factors

  • Ivan Pavlović Clinical Center of Serbia, Clinic of Obstetrics and Gynecology, Belgrade, Serbia
  • Darko Plećaš Clinical Center of Serbia, Clinic of Obstetrics and Gynecology, Belgrade, Serbia
  • Snežana Plešinac Clinical Center of Serbia, Clinic of Obstetrics and Gynecology, Belgrade, Serbia
  • Jelena Dotlić Clinical Center of Serbia, C linic of Obstetrics and Gynecology, Belgrade, Serbia
  • Nemanja Stojanović Clinical Center of Serbia, C linic of Obstetrics and Gynecology, Belgrade, Serbia
Keywords: age factors, congenital abnormalities, diagnosis, incidence, pregnancy, prognosis, risk factors, ultrasonography

Abstract


Background/Aim. Congenital malformations still represent one of the most important causes of prenatal and infant death. The study aim was to analyze occurrence, outcomes and risk factors of different types of congenital anomalies. Methods. The study included all pregnant women directed to Clinic of Obstetrics and Gynecology, Clinical Center of Serbia, Belgrade due to prenatally diagnosed congenital fetal anomalies during past ten years (January 1, 2008–December 31, 2017). Upon admission to our Clinic a detailed general medical and obstetrical history were taken from every patient. All women underwent genetic testing. Ultrasonography and magnetic resonance were diagnostic methods for fetal malformations confirmation. Results. The study included 773 pregnant women aged from 18 to 46 years. Out of registered nine different groups of fetal anomalies/malformations, the most common were malformations of the central nervous system, while majority of fetuses had combined multiple anomalies. Genetic cause for congenital anomalies was present in 25.2% of pregnancies. Medical pregnancy abortion was performed in 71.8% of cases. Only 10.2% of pregnancies ended in term. The best outcome for children was obtained in case of gastrointestinal anomalies (52% live born). Contrary, only one child with neck and thorax malformations could be saved. According to logistic regression the most important predictor of having a child with combined multiple anomalies was mother’s age, while predictor of central nervous system anomalies was gestational diabetes. The significant predictor of genetic anomalies was mother’s age. Conclusion. In our sample neurological congenital anomalies were the most common, although abnormalities of all organ systems were registered. Majority of pregnancies had to be discontinued due to combined multiple anomalies caused by genetic disorders. Older mother’s age and diabetes can imply on the increased risk for fetal malformations.

References

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.

Published
2021/08/04
Section
Original Paper