Neonatology

The scale of the conducted studies and the use of vertically integrated medical information system “Obstetrics and gynecology” and “Neonatology” (VIMIS “AKiNEO”) data make it possible to determine reference intervals for various metabolites in dried blood spots of healthy newborns in laboratories directly implementing extended neonatal screening.

Objective – to estimate reference intervals of markers of hereditary metabolic diseases in dried blood spots of healthy newborns using the VIMIS “AKiNEO” data array.

Material and methods. The material for the study was dried blood spot samples of newborns obtained in institutions participating in the neonatal screening program. The studies were carried out using tandem mass spectrometry. In accordance with the National Guidelines for Neonatal Screening 2023, 25 main markers were selected for analysis and determination of reference intervals. Statistical processing of the obtained results was carried out using the MedCalc Version 19.0.7 – 64 bit software package. The nonparametric rank method was used to calculate the intervals. Reference intervals in view of large data samples were presented as limits of 99% of values (0.5 and 99.5 percentiles).

Results. The reference intervals obtained in this study showed differences with the data presented in the characteristics of the used commercial diagnostic kits. This may be due to the ethnic characteristics of the patients, differences in the timing of taking dry blood spots from newborns, features of the preanalytical stage, and the technological process of performing the study. For 4 metabolites (methionine, arginine, free carnitine, acetylcarnitine), differences in reference valueswere found depending on the sex of the newborn.

Conclusion. The development of current reference intervals by clinical laboratories contributes to the improvement of extended neonatal screening and the quality of medical care for children in the Russian Federation.

Newborns in Russia are screened for congenital hereditary diseases; biomarkers for 29 disorders are quantified in dry blood spots with tandem mass spectrometry (TMS). Sufficient accuracy and precision of TMS analysis are achieved with stable isotope-labeled internal standards of the analytes. Diagnostic kits, besides internal standards, also include control samples. Several kits from various suppliers are available in Russia. The most used is the kit NeoBase™2 (Finland); a new kit produced in Russia, Neoscreen™30 was registered in 2025 (RZN 2025/24420) requires thorough evaluation.

The aim of the study was to compare kits for tandem mass spectrometry based newborn screening and to assess the analytical and diagnostic performance of a new kit Neoscreen™30.

Material and methods. NeoBase™2 and Neoscreen™30 kits for newborn screening by dry blood spots with tandem mass spectrometry were investigated. Analytical performance of Neoscreen ™30 kit was evaluated with control dry blood spot samples. Reference ranges were estimated by analyzing 450 samples that remained after newborn screening, diagnostic performance was evaluated with comparative analysis of 375 samples, including 33 positive samples with increased concentration of at least one analyte.

Results. Neoscreen™30 kit demonstrates high sensitivity; the estimated linearity allows quantification of all the analytes between the cutoff values. Inter- and intra-batch and between instrument precision demonstrated coefficient of variation less than 20% for all analytes. Both tested kits outlined samples with concentrations outside the cutoff values.

Conclusion. Neoscreen™30 kit allows quantification of major biomarkers in newborn screening. It demon­strates similar or better performance when compared with NeoBase™2 kit, and can be successfully used for neonatal screening.

Vitamin D status during pregnancy is important for maternal health, fetal skeletal growth, and optimal pregnancy outcomes.

Objective – to assess the level of vitamin D supply of the “mother – placenta – newborn” triad in the Arctic zone of the Far Eastern Federal District.

Material and methods. Study design: observational, analytical, cross-sectional. To assess the distribution of vitamin D content in the dynamic system “mother–placenta–fetus (newborn)”. Analysis of the concentration of calcidiol in each link of the system was carried out. Using the random sampling method, 30 triads “mother–placenta–newborn” were included in the main study group (Arctic zone, Anadyr) that were characterized by the physiological course of the perinatal period. The control group of the study (Southern zone, Khabarovsk) included 54 triads.

Results. Concentration of 25(OH)D in the blood serum of mothers was in 1.5 times lower than in newborns (10.0 vs 14.6 ng/ml; p=0.003) and in placentas (14.3 ng/ml, p=0.006). The vitamin D supply in the subgroups of newborns and placentas did not have statistically significant differences. 100.0% of mothers had vitamin D deficiency. Predominant of severe deficiency in comparison with the subgroups of newborns and placentas, respectively (p=0.031 vs p=0.005). Vitamin D deficiency and insufficiency in mothers of the main study group were diagnosed 8 and 3 times more often in comparison with the southern group (OR=8.000; 95% CI 2.636–24.279 and OR=2.857; 95% CI 1.117–7.311) respectively. The prevalence of low vitamin D status in the subgroup of newborns was 72 times higher in the Arctic zone compared with the southern group (OR=72.000; 95% CI 16.655–311.252).

Conclusion. It was found that pregnant women and newborns from the Arctic zone of Russia are an extremely vulnerable group of the population due to the climatic and geographical features of the territory.

Early diagnostics of genetic diseases in newborns is an actual issue not only for domestic healthcare but also for the entire international clinical community. The first results of a pilot project using selective exome screening of newborn shave demonstrated its effectiveness. It was conducted in 6 constituent entities of the Russian Federation by employees of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of the Russian Federation, with the active participation of regional perinatal centers. The study included 1698 children from 6 constituent entities of the Russian Federation (Moscow Region, Udmurt Republic, Republic of Tatarstan, Irkutsk Region, Sverdlovsk Region, Chelyabinsk Region) in 2024. The detalized description of the phenotype of newborns was made by selection of online forms. The system for assessing clinical criteria for inclusion in the study was divided into subgroups: “large” and “small”. That gives a chance to optimize the formation of a risk group for genetic diseases. In the result of the study was detection of pathogenic genetic variants, including curable diseases (for example, tuberous sclerosis, cystic fibrosis, spinal muscular atrophy) in 11% of newborns from the risk group.

Selective exome screening is based on a differentiated approach to the phenotype of newborns and taking into account the individual clinical features of neonatal adaptation. The approach is a promising tool for the early detection of congenital and hereditary diseases not included in routine expanded neonatal screening (ENS). Thanks to early detection and timely initiation of the treatment of children with orphan diseases not detected within the framework of ENS, and implementation in practical healthcare in the near future will help to reduce early childhood disability and infant mortality. In-depth analysis of concomitant (“random”) genetic findings will serve the further development of personalized medicine. The model of selective exome screening implemented in pilot territories of the Russian Federation is aimed at integrating high-throughput sequencing into routine neonatal and pediatric practice.

Congenital lung malformations are a group of diseases united on the basis of embryonic disorders of the formation of lung tissue and terminal bronchioles. These abnormalities can be identified during the second trimester of pregnancy through prenatal ultrasound and lead to respiratory and cardiovascular problems in infants, both in the early neonatal period (0–6 days) and in the late neonatal period (7–28 days). The article presents an up-to-date review of literature data on the features of pathogenesis and diagnosis, ways to stabilize the clinical condition, and approaches to conservative treatment for newborns with lung tissue defects.

The article presents a clinical observation of a full-term newborn with congenital aplasia of the skin of the right hand. Information on epidemiology, ethiology, diagnosis, and external therapy using regenerating dressings and ointments is given. The mechanisms of regenerative action of multipotent mesenchymal stromal cells and treatment outcomes need to be discussed.

More than six decades have passed since the first documented intrauterine intervention. Fetal surgery has transformed from an experimental procedure into everyday clinical practice over the years. Despite the significant potential for today, maternal and fetal surgery can be classified as complex medical interventions, which cause certain ethical problems. Ethical principles in fetal surgery are established through an analysis of the ratio of potential benefits and possible risks to the health of a woman and an unborn child. One of the central issues remains determining the moral status of the fetus, whose legal and biological status is directly related to the rights and interests of the mother. The present work is devoted to the analysis of ethical problems arising in the practice of fetal surgery.

Objective. Considering various approaches to determining the moral status of the fetus as an object of medical care and a part of the mother’s body. Analysis of the balance of potential risks and benefits for the pregnant woman and fetus during surgery.

The article is devoted to the debatable issue of the obligation to comply with clinical recommendations in the field of recent legislative changes and the expressed position of regulators. The article explains whether clinical recommendations form mandatory requirements, in which cases compliance with clinical recommendations will be the subject of control and the application of penalties or other sanctions, as well as the cause of liability.

The article describes the concept of moral distress in neonatal intensive care units, the negative consequences of moral distress for doctors, and some personal factors that influence the severity of its consequences.