Epidemiology of congenital anomalies

  • Andrea Valek Semmelweis University, Faculty of General Medicine, Pediatrics Clinic, Department of Neonatology, Budapest Pál Heim National Pediatric Institute, Budapest, Hungary
  • Miklós Szabó Semmelweis University, Faculty of General Medicine, Pediatrics Clinic, Department of Neonatology, Budapest, Hungary
Keywords: congenital anomaly, epidemiology, phenotype, genetics, teratogen

Abstract

Congenital anomalies encompass various abnormalities in the structure or function of the body that develop prenatally. They represent a significant public health issue due to their high incidence and prominent role in causing mortality among children under the age of five. Congenital anomalies contribute to long-term disability, which takes a significant economic burden on individuals, families, health care systems and societies.
In terms of clinical implications, these anomalies are classified as major or minor. Morphological abnormalities are more often isolated, when they affect a single organ or organ system, or they can also be multiplex affecting several organ systems simultaneously. Malformation, deformation, disruption and dysplasia are distinguished. Multiplex disorders include syndromes, associations and sequences. Congenital anomalies can be categorized based on whether they are caused by genetic or nongenetic factors like exposure to teratogenic agents. Teratogenic agents include maternal diseases, infectious agents, physical factors, drugs and other chemicals. Nevertheless, the cause of the majority of congenital anomalies remains unknown, while others may be multifactorial, involving a combination of genetic and environmental factors. The purpose of this article is to expand upon and provide further elaboration on the definitions previously
established.

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Published
2023-12-20
How to Cite
Valek, A., & Szabó, M. (2023). Epidemiology of congenital anomalies. Health Promotion, 64(3), 3-13. https://doi.org/10.24365/ef.12088
Section
Thematic collection