Current approaches to detecting, evaluating, and predicting congenital malformations

DOI: https://doi.org/10.29296/25877305-2021-02-01
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Issue: 
2
Year: 
2021

T. Pikuza(1); Professor R. Chilova(1), MD; E. Sokova(2), Candidate of Medical Sciences; E.
Zhukova(1), Candidate of Medical Sciences; R. Kazakov(2), Candidate of Biological Sciences (1)I.M. Sechenov
First Moscow State Medical University (Sechenov University), Ministry of Health of Russia (2)Research Center
for Examination of Medical Products, Ministry of Health of Russia, Moscow

The high frequency of embryonic and fetal losses caused by intrauterine malformations (IUMs) and the significant contribution of malformations to the structure of causes of infant mortality, morbidity, and disability define their important medical and social values. The European Surveillance of Congenital Anomalies (EUROCAT) has shown that 1.7 million newborns with IUMs are born annually in the world. The WHO has estimated that annually 303,000 newborns die within 4 weeks of birth worldwide due to congenital anomalies. According to various researchers, the contribution of this pathology to the structure of infant mortality in the Russian Federation is up to 35–40%, whereas the rate of birth of babies with IUMs is 4–6%. The results of numerous studies demonstrate the heterogeneity of the causes of IUMs (genetic, chromosomal, teratogenic, etc.), although the nature of IUMs remains unknown and is multifactorial in most cases (65–70%). Both epidemiological and experimental studies are a source of information to recognize potential risk factors for IUMs and to generate hypotheses for future investigations when studying the interaction between environmental factors and malformations.
Keywords: 
congenital malformations
infant mortality
gene polymorphism
P glycoprotein

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