Neonatology

In recent years, the morbidity characteristics of premature infants born small and low for gestational age (SGA) have been the subject of debate. Low birth weight is considered a risk factor for pathological conditions of the neonatal period, neonatal and infant mortality.

Objective: study of the morbidity of premature infants born with SGA in modern clinical practice.

Material and methods. The study included 533 premature babies: the observation group – 82 children born SGA, the comparison group – 451 children, appropriate for gestational age. There are 2 subgroups: premature, born before 32 weeks and at 32–36 weeks. The frequency and risk of developing the main pathological conditions of the neonatal period were assessed. The reliability of data differences was assessed using nonparametric methods. The relative risk (RR) was calculated.

Results. Premature infants born with SGA had a higher incidence of severe birth asphyxia (RR=5.5, p<0.05), pneumothorax and pneumomediastinum (RR=5.5, p<0.05), intracranial hemorrhage (RR=5.0, p<0.001), neonatal seizures (RR=4.7, p<0.05), retinopathy of prematurity (RR=3.9, p<0.05) and bronchopulmonary dysplasia (RR=5.2, p<0.001). At the gestational age of 24–31 weeks, severe birth asphyxia was recorded more often – 20.8 per 100 examined (in the comparison group – 5.9 per 100 examined, p<0.05), intracranial hemorrhage – 37.5 per 100 examined (in the comparison group – 11.8 per 100 examined, p<0.01), neonatal convulsions – 20.8 per 100 examined (in the comparison group – 4.4 per 100 examined, p<0.05), air leak syndrome – 20.8 per 100 examined (in the comparison group – 4.4 per 100 examined), bronchopulmonary dysplasia – 62.5 per 100 examined (in the comparison group – 20.6 per 100 examined, p<0.001).

Conсlusion. Pathological conditions that determine the severity of the neonatal period and possible adverse outcomes have the highest risk of development in premature infants born SGA. The most significant adverse effects are observed with a combination of prematurity (gestational age at birth less than 32 weeks) and small size of the newborn for gestational age.

In pregnancy combined with oncological disease, clinicians are faced with the task of treating the mother’s pathology without harming the development of the fetus and the health of the newborn. The modern algorithm for managing this cohort of patients includes prolonging pregnancy to full-term and chemotherapy treatment in the 2^nd and 3^rd trimesters.

Objective: evaluation of the neonatal course of babies, born from mothers with oncological diseases, taking into account the tactics of pregnancy prolongation and chemotherapу.

Material and methods. The study examined and compared the features of neonatal adaptation of 118 babies of the main (prospective) group (2021–2024), 115 of the retrospective group (2012–2019), born to women with oncological diseases during pregnancy and 100 children of the control group.

Results. In the prospective group, compared to the retrospective one, neonates were significantly more often born full-term [92 (78.0%) and 63 (54.8%), respectively, p<0.001]. However, the percentage of full-term deliveries in mothers with cancer (92 (78.0%)) is still statistically lower than in the control group [90 (90.0%)] (p=0.018). In the main study group, compared to the retrospective one, significantly more babies were considered healthy after birth, significantly fewer newborns required resuscitation in the delivery room. The percentage of newborns with a diagnosis of “Healthy” upon discharge in the prospective group (49.6%) is also significantly higher than the same indicator in the retrospective group (16.5%) (p<0.001).

Conclusion. Modern tactics of managing pregnancy associated with oncological disease using chemotherapy and prolongation to full-term allowed to significantly improve perinatal outcomes. Currently, the health indicators of children of this cohort are comparable to the indicators of children born to mothers without oncological disease during pregnancy.

Maternal and perinatal mortality rates are of the sensitive indicators can characterize the effectiveness of health systems in different time periods. The modern data do not allow us to see the impact of COVID-19 on maternal and perinatal mortality worldwide. The long-term effects of COVID-19 on maternal and newborn health, especially the effects of prolonged COVID and post-covid disorders, require further assessment, respectively. Air pollution can also negatively impact pregnancy, increasing the risk of complications and adverse outcomes for mother and baby.

The aim of the study was to analyze the epidemiological indicators of loss due to maternal and perinatal mortality for the period 2016–2022 with an assessment of environmental factors for the industrial region of the Republic of Kazakhstan.

Material and methods. The analysis of epidemiological data due to the loss of years as a result of maternal and perinatal mortality for 2016–2022 was carried out with an assessment of dynamic changes during the pandemic and the post-covid period in a large industrial region of Kazakhstan (Pavlodar region).

Results. The increase in the loss of years due to maternal and perinatal mortality rates occurred during the pandemic period. Infectious complications prevailed in the structure of maternal mortality (40.0% viral, postpartum sepsis). The structure of prenatal mortality was dominated by hemorrhages (32.03%) and mortality due to congenital abnormalities of the cardiovascular system (47.5%). The causal pattern of pregnancy complications and atmospheric air pollution with suspended solids, carbon monoxide, nitrogen dioxide, nitrogen oxide, sulfur dioxide, ground-level ozone, hydrogen sulfide, phenol, ammonia and the atmosphere pollution index has been established.

Conclusions. There has been an increase in loss of years due to maternal and perinatal mortality during the pandemic. The interrelation of pregnancy complications with air pollution has been established.

The review presents information about the methods of standardized study of the level of neurocognitive development of children and provides a comparative characteristic of the current methods of assessing neuropsychological development. The original standardization procedure was studied, and the methodological manual of the Bayley-III scales was translated into Russian. An exploratory search was conducted to assess neuropsychological development using the Bayley-III scales in both term and preterm mature children born with very low and extremely low birth weight.

The most common infectious disease of the lower respiratory tract in infants is acute bronchiolitis (AB). AB affects the bronchioles – a part of the respiratory tract between the bronchi and alveoli, so the disease has features of both bronchitis and pneumonia, which may be associated with difficulties in establishing a diagnosis and underdiagnosis in real clinical practice. The review, based on current literature data, research results and the authors’ experience, presents modern information on the etiology, epidemiology, risk factors, pathogenesis, pathomorphology, clinical picture, and diagnosis of AB. Approaches to therapy and prevention of the disease are outlined from the standpoint of evidence-based medicine. The outcomes and consequences of acute bronchiolitis are described separately.

This article presents the successful experience of using various methods of efferent therapy: renal replacement therapy (peritoneal dialysis, continuous veno-venous hemofiltration), hemoperfusion in a newborn child with rhabdomyolysis and severe asphyxia at birth.

The integration of modern molecular genetic methods, particularly Next-Generation Sequencing (NGS), into clinical practice has expanded diagnostic capabilities for children from the neonatal period onward. Early genetic disease detection is a promising avenue for advancing neonatology and pediatrics. It enables timely treatment selection and adjustment, prognosis determination, and genetic counseling for affected families.

Hereditary nervous system disorders often manifest in the neonatal period as convulsive syndromes mimicking perinatal complications. Their etiology is frequently diagnosed much later, delaying pathogenetic therapy initiation and contributing to early disability in affected children.

Various authors estimate the average age for diagnostics of genetically-caused nervous system developmental disorders as 3–6 years.

Pathogenic ATP1A3 mutations are the primary cause of several rare neurological disorders in infants and children with overlapping phenotypes. These include Alternating Hemiplegia of Childhood 2 (AHC2), Rapid-Onset Dystonia-Parkinsonism (DYT12 or RDP), CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss), Developmental and Epileptic Encephalopathy 99 (DEE99), and Childhood-Onset Schizophrenia (COS).

The prevalence of ATP1A3-related disorders remains unclear due to rarity, diverse clinical manifestations and gradual development of characteristic symptom complexes.

Aim. This clinical observation describes a very premature infant with a variant in the ATR1A3 gene, highlighting the distinctive features and stages of the differential diagnostic search during the neonatal period. The case study focuses on the formation of geno-phenotypic correlations typical of CAPOS syndrome and the degree of their manifestation in the presented patient.

This article presents a clinical case of a severely premature infant diagnosed with an ATP1A3 gene variant. It also reviews current literature on ATP1A3 variant phenotypes, pathogenesis, clinical features, diagnostic approaches and rehabilitation potential.

As genomic and exomic sequencing is introduced into medical practice, neonatologists, pediatricians, and geneticists are faced with the problem of how to treat the detection of accidental genetic findings in examined children, when and to what extent to report these findings to parents or other legal representatives of patients. Accidental findings are understood as genetic variants of clinical significance identified outside the target diagnostic request, including information about predisposition to endocrine, immunological, oncological, neurodegenerative and other serious diseases that manifest themselves both in childhood and adulthood.

The study analyzes the evolution of approaches to regulating information about accidental findings for medical purposes.

The concept of the “right not to know” is critically considered as a reflection of the autonomy of the patient or his representatives. Arguments against this concept include the interpersonal nature of genetic information, the potential harm of ignorance to a child’s relatives, and limited prevention options.

The concept of an “open future” proposed by philosopher Joel Feinberg, originally developed to protect the rights of a young child, is also being considered. Its influence on medical decision-making is analyzed in the context of informing patients (their parents) about random genetic findings.

As a working model of a dynamic approach to informed patient consent, a differentiated hierarchical system of medical information disclosure is proposed, allowing patients and their legal representatives to select categories of test results with the possibility of subsequent phased updating of consent, based on prioritization of random findings depending on their level of clinical significance.

The purpose of the work: to analyze the ethical problems associated with accidental findings during genome-wide or exome sequencing of newborns, and ways to overcome them; to critically analyze the bioethical concepts of “the right not to know” and “the right to an open future”; to develop solutions based on the dynamic informed consent model.

Material and methods. The research methodology included a systematic review of research on bioethics and medical genetics, and an analysis based on the principles of bioethics of proposed solutions. The recommendations of reputable international organizations such as the American College of Medical Genetics and Genomics (ACMG), the European Society of Human Genetics (ESHG) are considered.

The article analyzes the influence of religion on the organization and provision of medical care, current trends in communication with patients, staff of medical organizations, recent changes in legislation regarding the implementation of citizens’ rights to be visited by clergymen and to perform religious rites.

The article describes the personal and organizational difficulties in the work of doctors in neonatal intensive care units, as well as ways to prevent possible complications.