Introduction. The frequency of children with birth defects (BD) according to the WHO reaches 4-6% of the total number of newborns.
Objectives. The purpose of this work was to determine the probable risk factors for “model” BDs in newborns.
Methods. Analysis of clinical-epidemiological and medical-statistic data from the primary documentation on newborns in 2002-2020 with BDs by the “case-control” method filling out registration cards in maternity hospitals of Lviv region was conducted.
Results. There were filled 1204 healthy newborns’ cards and 1211 cards of newborns with BDs. In the structure of “model” BD, the deformations of the musculoskeletal system composed 272 (22.5%) cases, clefts of the lip and palate accounted for 193 (15.9%) cases, abnormalities comprised 174 (14.4%) cases. We observed statistically significant risk (р<0.05) of BDs for newborns with increased numbers of pregnancies in mothers. There was a statistically significant difference [OR=3.97; 95%CI: 1.97; 7.99] in the medical history relative to stillbirths (3.2%) in mothers with BD newborns as compared to women in the control group (0.8%). The prevalence of pathological structure of the placenta in women of the study group (32.8%) was higher [OR=3.71; 95%CI:3.01; 4.56] than in those of the control group (16.8%).
Mothers of both groups showed no statistically significant difference in anemia, preeclampsia, the interval between pregnancies, and the number of abortions and miscarriages (p> 0.05).
Conclusions. Further research in this area should be directed to determine the contributions of genetic factors in BD occurrence, considering the genealogical history of each family.
Birth defects (BDs) are an essential public health issue in children; the identification of probable risk factors should be a priority for the healthcare system.
Objectives: This study aimed to determine the probable risk factors for “model” BDs in newborns.
Methods. We collected and analyzed clinical-epidemiological and medical-statistic data from the primary records of children with BDs born in 2002–2022 using the “case-control” method, filling out the registration cards in maternity hospitals of Lviv Region (Ukraine).
Results. There were 1,279 healthy newborns’ cards and 1,286 cards of newborns with BDs filled out. No significant difference was found in terms of body weight, height, head circumference, and chest circumference (p>0.05) among children with BDs and the control group. The age o mothers with children affected by BD was 27.3±6.1 years and had no statistically significant difference from the age of mothers of children in the control group - 25.6±7.2 years (p>0.05). Mothers who gave birth to children with BDs used drugs in the preconception period [OR=2.46; 95% CI: 1.75; 3.44] and the first trimester of pregnancy [OR=4.76; 95% CI: 3.18; 7.14] significantly more often (p<0.05) compared to mothers in the control group. Prepregnancy preparations were adequately conducted by 278 (21.6%) women who gave birth to children with BDs, which was statistically different from 563 (44%) women in the control group (p<0.05) [OR=2.85; 95% CI: 2.39; 3.39].
Conclusions. More efforts are necessary to identify drug safety issues during pregnancy and to improve the current information system for clinical practice.
The efficacy and efficiency of medical genetics depend on the level of knowledge among physicians, the thoroughness
of analysis conducted, and the diagnostic capabilities concerning pathologies that are relatively uncommon within the population. This allows maximum assistance to patients with congenital and hereditary diseases and improves their quality of life. In recent years, despite the undeniable
achievements of medical genetics, there has been an increase in genetically determined pathologies, a trend often linked to the intensification of the mutagenic influence of a polluted environment, the increase in the diagnosis of genetic diseases, and the development of new methods for
diagnosing hereditary pathologies. Therefore, the relevance and significance of this work are beyond doubt.
The textbook authored by Doctors of Medical Sciences and professors Kitsera N.I., Kovalchuk L.Y., and Cherniuk N.V., titled “Genetic Pathology and Its Bronchopulmonary Manifestations,” is dedicated to advancing the knowledge of bronchopulmonary pathology in hereditary diseases among physicians and medical students. This book represents the first scholarly work to comprehensively elucidate the essence of various chromosomal (such as Patau syndrome and Edwards syndrome), monogenic (such as Ehlers-Danlos syndrome and Osler-Weber-Rendu syndrome), X-linked, and multifactorial syndromes encountered in children, as well as describes pulmonary and bronchial complications associated with these conditions.
Objective: The relevance of this study is conditioned by the need for urgent search and implementation of effective methods of treatment of urinary system diseases in people of different ages, as well as addressing issues of quality treatment of connective tissue diseases in general and its dysplasia in particular. The aim of the article is to identify congenital defects as visceral markers of connective tissue dysplasia.
Methods: The methodology of this study includes a survey of a group of children with considerable problems in the development and functioning of the urinary system at the age of 2 weeks to 3 years, in order to qualitatively select and determine the most effective methods of treatment. Children who took part in this study had a set of phenotypic and clinical properties of undifferentiated connective tissue dysplasia.
Results: The considerable prevalence of undifferentiated connective tissue dysplasia in young children with congenital malformations of the urinary system, especially in children with abnormal development and functioning of kidney tissue, which substantially influences the course of the disease was determined. Also, treatment of undifferentiated connective tissue dysplasia was predicted.
Conclusions: It was concluded that the presence of a malformation of the urinary system, which is acquired by a child from birth, can be considered as a visceral manifestation of undifferentiated connective tissue dysplasia.
The growing number, prevalence, numerous complications, and deaths in patients with congenital anomalies of the kidney and urinary tract
(CAKUT) indicate the high relevance of the declared topic. Currently, clinical medicine is actively engaged in research on the cellular and molecular mechanisms that cause the appearance of these diseases.
Aim: The aim of the work is to study genetic markers of CAKUT and the tendency to a more severe course of pyelonephritis in young children.
Material and methods: Using the multiplex polymerase chain reaction method, 50 children with pyelonephritis were examined for the presence of deletion alleles of the glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) genes.
Results and discussion: As a result, 35 children were diagnosed with certain CAKUT. A statistically significant associative relationship between the development of pyelonephritis in a child and the presence of a null allele GSTM1 0/0 in its genotype and a high probability of CAKUT with quantitative and positional anomalies and impaired formation and differentiation of renal tissue in carriers of null alleles GSTT1 0/0, GSTM1 0/0 in their combination was revealed.
Conclusions: The fact that different forms of abnormalities are detected in members of the same family suggests that certain genetic mutations can potentially lead to CAKUT syndrome, but the final phenotype of the renal system depends either on the genetic background or on environmental factors.