HEREDITARY DISEASES AND CONGENITAL MALFORMATIONS REGISTRATION AND MONITORING INFORMATION SYSTEM
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Date
2020
Authors
Nazarova, L.
Tolegen, N.
Bayanova, M.
Journal Title
Journal ISSN
Volume Title
Publisher
International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana
Abstract
Introduction. Database on hereditary diseases is one of the main tasks of healthcare. Register of hereditary
pathology allows to assess accurately the frequency of childbirths with various hereditary diseases
and congenital malformations in the population. The purpose of this work is to present the frequency
and structure of congenital and hereditary pathology based on the use of the original genetic database
for monitoring of congenital malformations and hereditary diseases.
Methods: Clinical-genealogical, cytogenetic, FISH method, molecular-genetic (MLPA, mass spectrometry
and fluorimetry, Sanger sequencing, NGS), statistical.
Results: Up to date, National Research Center for Maternal and Child Health’s genetic register database
has registered 4564 patients and fetuses with congenital and hereditary pathologies. Congenital malformations
prevail in the database with 2317 cases (50,8%), including congenital malfunctions of obligatory
registration according to International Register (EUROCAT). Chromosomal pathology is identified in 1283
(28,1%) patients, monogenic – in 964 (21,1%) cases. In congenital malformations the largest proportion
belongs to congenital malformations of blood circulation – 694 cases (29,9%), followed by congenital
malformations of gastrointestinal tract – 304 cases (13,1%), multiple malformations – 275 cases (12,8%),
congenital malformations of urinary system – 298 patients (12,8%), congenital malformations of nervous
system – 217 cases (9,4%), congenital malformations of facial structures (187 patients, 8%) and of
musculoskeletal system with 175 cases (7,5%). The most common of the chromosomal pathologies was
registered Down syndrome with 616 cases (48,1%), Edwards syndrome – in 122(9,5%). Turner syndrome
– in 101(7,9%) cases, Kleinfelter’s syndrome – in 66 (5,1%), Patau syndrome – in 30 (2,3%), other gender
chromosome pathologies – 19 (1,5%), structural rearrangements – 329 (25,6%). Monogenic pathology
was detected in 964 (21,1%) cases. Among monogenic pathology, the most common were osteogenesis
imperfecta, chondrodystrophy, adrenogenital syndrome, congenital hypothyroidism, mucopolysaccharidosis,
Prader-Willi syndrome.
Conclusion: The formation of a database of congenital and hereditary pathologies with full coverage of
all fetuses, newborns and children at an older age, a comprehensive examination of families and clarification
of the diagnosis allows to establish the frequency, structure and dynamics of congenital malformations
and hereditary pathology.
Description
Keywords
register, congenital malformations, chromosomal and monogenic pathology, Research Subject Categories::MEDICINE