Epidemiology of Major Congenital Malformations with Specific Focus on Teratogens

Author(s): Sonia Chaabane, Anick Berard

Journal Name: Current Drug Safety

Volume 8 , Issue 2 , 2013

Become EABM
Become Reviewer
Call for Editor


Background: Major congenital malformations (MCMs) are a significant cause of infant morbidity and mortality and constitute an important societal and economic burden.

Methods: We conducted a literature review to synthesize current evidence on MCMs. Specific objectives were to: 1) summarize internationally reported prevalence of MCMs based on registries and surveillance systems; 2) describe the epidemiology of different MCM types including critical periods and causative factors; 3) to identify the role played by principal known teratogens on the increase in the risk of MCMs; and 4) determine challenges associated with the epidemiologic assessment of potential risk factors for MCMs as well as potential preventive measures.

Results: It is estimated that 7.9 million infants worldwide are born every year with a MCM, yet there is considerable variation in reported rates across countries. This may be attributable to varying definitions arising from heterogeneity among different classes with respect to critical periods for embryogenesis and organogenesis. There is also substantial etiologic heterogeneity among MCMs classes that potentially contribute to challenges in epidemiologic studies. Modifiable factors such as pharmacologic exposures have received considerable attention and a number of drugs have been shown to be teratogenic including folic acid antagonists, angiotensin converting enzyme inhibitors, antidepressants, anticonvulsants, coumarin derivatives and retinoids including isotretinoin.

Conclusion: The majority of MCMs are due to unexplained causes. Other contributing factors include genetics, environmental factors, multifactorial inheritance, maternal-related conditions, and maternal drug or chemical exposure. However, there remains a need to better understand the epidemiology of MCMs when studying drug effect during gestation.

Keywords: Congenital malformation, teratogen, drug use, risk factor, prevalence, critical period in pregnancy, epidemiology, and review.

Rights & PermissionsPrintExport Cite as

Article Details

Year: 2013
Published on: 30 June, 2013
Page: [128 - 140]
Pages: 13
DOI: 10.2174/15748863112079990011
Price: $65

Article Metrics

PDF: 45