VACTERL association in the practice of a neonatologist

Background. To date, congenital malformations occupy a leading position in the structure of morbidity and mortality of children in the neonatal period. Among newborns, the frequency of detection of congenital malformations is 2-3%, however, by the first year of a child's life, this indicator reaches 5%. At the same time, malformations can be found both in monovariant and in various combinations. One of the rare sets of congenital malformations of scientific interest is the VACTERL association (ICD-10: Q87.2), first mentioned and described by L. Quan and D. Smith back in 1972. This abbreviation is not accidental, it reflects defects that tend to occur simultaneously in one newborn: «V» – defects in the development of the spine, «A» – absence of the anus, «C» – heart defects, «T» – tracheoesophageal fistula, «E» – esophageal atresia, «R» – anomalies kidneys, «L» – limb abnormalities. In addition to these anomalies, a child may have other congenital malformations of various organs and body systems, which significantly expands the range of diagnostic search. To date, despite the achievements of science, the etiology and pathogenesis of this disease have not been reliably established. Many scientists have been actively studying the genetic markers of the VACTERL association for several decades, they have identified seven probable genes. At the same time, it is known that predisposing factors play a significant role in the development of the disease, such as assisted reproductive technologies, obesity and diabetes mellitus of the mother, lack of folic acid intake and smoking during pregnancy.

Results. Some of the congenital malformations can be detected antenatally, during ultrasound screening. However, most of the key defects that make it possible to establish a diagnosis are detected after the birth of a child. The defects included in the VACTERL association, as a rule, do not threaten the life of a newborn child and are amenable to successful correction. This article reflects the course of VACTERL association in a newborn baby.

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