The structure of congenital malformations in children who were born in the Novosibirsk regional perinatal center

Timely prenatal diagnostics of congenital malformations (CM) in the fetus allows for planned routing of pregnant women and their newborns to specialized medical care centers, to the perinatal center (PC). Women are referred to medical organizations that have pediatric surgery and cardiac surgery departments. Delivery of pregnant women with CM of the fetus in perinatal centers provides the opportunity to receive high-tech medical care for the newborns in the next few hours after birth, which involves surgical intervention. It allows promptly determining tactics for newborns with multiple congenital malformations (MCM). This approach to patient routing helps reduce infant and child mortality rates in the region and improve the quality of life of children with CM. This ensures full and dynamic registration of CM in the region - the development of strategies to prevent their occurrence. Objective. To analyze the structure of congenital malformations, the timeliness of their diagnosis and outcomes in children born in the regional perinatal center in one calendar year. This is necessary to initiate the development of a regional database on children with CM, optimize the provision of medical care to mothers and children in the Novosibirsk region. Material and methods. Pro- and retrospective analysis of individual medical records of pregnant and puerperal women, birth histories, neonatal development histories and inpatient medical records. Results. In total, 492 children with CM were born in the OPC in 2023, which accounted for 9.3% of all births. 433 (88%) children with confirmed CM live in the Novosibirsk Region, the rest (12%) live in various regions of the Russian Federation. CM of the fetus were detected prenatally in 300 (61%) cases of pregnancy, in 192 (39%) they were diagnosed for the first time only postnatally. The general structure of CM is represented by isolated (mono) defects in 434 (88.2%) and multiple defects in 58 (11.8%) patients. CM were distributed among body systems as follows: cardiovascular system - 159 (32.3%), genitourinary - 133 (27.1%), multiple congenital malformations - 58 (11.8%), musculoskeletal system - 39 (7.9%), central nervous system - 28 (5.7%), gastrointestinal tract - 25 (5.1%), maxillofacial system - 24 (4.9%), skin malformations - 11 (2.2%), respiratory system - 5 (1%), visual organ 4 (0.8%). Chromosomal syndromes were confirmed in 6 (1.2%) children. Conclusion. The structure of diagnosed CM in children born in the PC differs significantly from the structure of CM subject to monitoring. This confirms the need to develop a regional database of children with CM to determine the epidemiological trends of the region. CM are the second leading cause of infant mortality in the Novosibirsk Region. Therefore, the development of a regional program for their prevention is considered a reserve capacity for reducing this indicator.

newborns, congenital malformations, chromosomal syndromes

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