Неонатология № 4 (38), 2022


News, Opinions, Training

Since October 2022 the "Neonatology: News, Opinions, Training" journal has been included into Scopus, an international database.

The journal is published in collaboration with All-Russian Public Organization for Assisting Development of Neonatology «Russian Society of Neonatologists»

The journal is intended to become a guide for medical practitioners being a part of the continuing medical education of physicians in Russia.

Topic number
4 . 2022
Expanded newborn screening for hereditary diseases

Significant dates of modern domestic neonatology

Original researches

Comparative characteristics of extremely low birth weight children receiving and not receiving folic acid


One of the essential micronutrients for the development of a newborn child is vitamin B9, which includes folates (folic acid compounds). Folic acid is a synthetic substance that is often used as a medicinal vitamin supplement and for food fortification. Both insufficient and excessive intake of folic acid can have negative consequences for the developing organism.

Aim. Assess the availability of folates in premature infants at the hospital.

Material and methods. The study included 62 children born at 26–31 weeks of gestation and were in the National Medical Research Center for Obstetrics, Gyn8ecology and Perinatology named after Academician

V.I. Kulakov of Ministry of Healthcare of the Russian Federation from May 2017 to December 2018. Group A (n=31) received folic acid 100 mcg/day for body weight <1500 g and 250 mcg/day for body weight >1500 g orally from day 14 of life, group B (n=31) – did not receive. The folate level in serum and erythrocytes was assessed in the first 7 days, 1.5 and 3 months, the number of erythrocytes and hemoglobin level – in 2, 6, 8 and 12 weeks, the concentration of ferritin, transferrin, iron – in 1.5 months. All patients received prevention/treatment of early anemia of prematurity: epoetin alfa 200 IU/kg 3 times a week s/c from day 7, iron 4–6 mg/kg/day from day 14, vitamin E 10% 5–10 mg/day orally.

Results. The average folate level in serum and erythrocytes in the groups of children at the age of the first 7 days of life, 1.5 and 3 months was high in relation to the reference values. At the age of 1.5 and 3 months, the concentration of folates in serum and erythrocytes in group A was higher than in group B, however, this difference was not statistically significant. None of the children had levels below the reference values. Folic acid supplementation did not have a statistically significant effect on the level of transferrin, ferritin, hemoglobin, the number of erythrocytes and the need for blood transfusions in children.

Conclusion. Against the background of the use of modern feeding schemes, very preterm infants do not have folate deficiency, and they do not require routine folic acid supplementation.

The choice of enteral nutrition for full-term newborns in conditions of delayed lactogenesis from the standpoint of understanding the functional features of the gastrointestinal tract in the neonatal period


Aim. The assessment of the nutrition and functional status of the gastrointestinal tract of newborns with an adapted formula based on goat’s milk (NANNY classic) as a supplementary feed.

Material and methods. The prospective cohort study was conducted between August 2021 and April 2022 at the Department of Neonatology, Institute of Neonatology and Pediatrics, Moscow, Russia. 64 healthy full-term newborns were included. Group 1 (n=32) fed as supplementary feeding by an adapted formula based on goat’s milk “NANNY classic”. Group 2 (n=32) was breastfed only. All newborns underwent anthropometry, food diary keeping, and laboratory examinations of feces and fecal carbohydrates during the time of hospitalization (5–6 days of life) and in 1 month of life.

Results Newborns of group 2 showed significantly higher carbohydrate content in feces compared to group 1 (0.9±0.5 vs 0.5±0.2%, p<0.05) on 5–6 days of life, and at one month (0.9±0.4 vs 0.5±0.3%, p<0.05). We found a statistically significant difference between the groups at the end of the first month in the number of children who received lactase – group 1 (n=14) and group 2 (n=21) (43.8 vs 65.6%, р<0.05). The difference between the number of samples with Bifidobacteria on days 5–6 of life was 19 (59.4%) vs 24 (75%) (p<0.05) in 1 month of life. In group 2 on days 5–6 of life, 17 (53.1%) vs 22 (68.8%) (p<0.05). We performed additional analysis of Bifidobacteria 1010–12 in feces at the age of 1 month of life. The number of samples with a high concentration in group 1 was 22 (68.8%) vs 14 (43.7%) in group 2 (p<0.05). At the age of 1 month of life, the number of biological fecal samples with a high concentration of Lactobacillus 1010–12 in group 1 was significantly higher 7 (21.9%) vs 3 (9.4%) in group 2 (p<0.05). The number of stool samples with an average concentration of Lactobacillus 107–9 in group 1 was 9 (28.1%) vs 4 (12.5%) in group 2 (p<0.05).

Anthropometric, biochemical blood parameters characterizing protein, carbohydrate, fat, and electrolytes metabolism, indicators of red blood did not reveal significant statistical differences.

Conclusion. The use of an adapted formula based on goat’s milk “NANNIE classic” as supplementary food for newborns, provided that lactase deficiency is corrected in a timely manner, leads to adequate dynamics of growth of bifidobacteria and lactobacilli in biological stool samples, decrease in cry duration and prevalence of gastrointestinal dyspeptic disorders. The results obtained determine this formula as the product of choice for infants born by vaginal delivery, under conditions of delayed lactogenesis in the early neonatal period.

Level of awareness as the main cause of ethical problems in genetic studies


The growth in the use of genetic technologies has shown the high medical efficacy of new methods, but numerous ethical issues have been raised simultaneously. One of them is related to the interest or non-interest in their genetic diseases, predisposition to pathologies, and risks for offspring.

The purpose of the study. To study the distribution of preferences for obtaining genetic information among people of different social groups, and to assess people’s awareness of the opportunities that they receive after genetic research.

Material and methods. The sociological survey was conducted and included 3 questions reflecting the respondent’s attitude to the results of genetic testing, and a short information block explaining the possibilities of medical genetics. After reading the information, respondents were asked to re-answer 3 questions if they intended to change their answers. A total of 116 people aged 18 to 39 were interviewed, including 60 (50.8%) people with medical education and 56 (49.2%) people without medical education.

Results. 39 (33%) people without medical education changed their opinion in a positive direction, and only 17 (14.4%) did not change their opinion. Among people with medical education, the opposite distribution was observed: 16 (13.5%) respondents changed their opinion in a positive direction, and 46 (39.1%) physicians did not. In general, a brief information block had a positive impact on the opinion of respondents in almost half (47.4%) of cases.

Conclusion. The conducted sociological study showed a high dependence on the level of public awareness of the possibilities of medical genetics. This fact testifies to the low awareness of people about the use of genetic information to improve the quality of life and dictates the need for large-scale educational work.


Neonatal screening for hereditary diseases in Russia: yesterday, today, and tomorrow


The history of neonatal screening in the Russian Federation community began in 1993. These were the first examinations of newborns for phenylketonuria (PKU) and congenital hypothyroidism (HT).

The introduction of mass screening into the medical practice occurred with significant difficulties due to the lack of awareness of health professionals about the goals, objectives, and possibilities of the screening. Moreover, the tests were conducted in interregional laboratories only. This fact caused significant logistical problems, and the situation required a correction. In 2006 the decree “On the mass examination of newborn for hereditary diseases” was signed. Based on the order, neonatal screening for hereditary diseases was carried out in 5 groups of nosological forms in the Russian Federation, up to date.

The organization of neonatal screening according to order#185 changed the diagnosis profile for three new diseases and significantly improved earlier screened diagnoses. Moreover, multiple reductions in infant mortality from the salting-loss form of adrenogenital syndrome were achieved. The life expectancy of cystic fibrosis patients increased more than two times. The quality of life for all diseases also increased significantly. In 2021, the Federal Program “Expanded Neonatal Screening” was developed, and in 2022 the Order of the Ministry of Health of the Russian Federation #274n “On Approval of the Procedure for Providing Medical Care to Patients with Congenital and (or) Hereditary Diseases” was published.

29 metabolic disorders will be screened by tandem mass spectrometry from 2023. A group of the diagnoses as spinal muscular atrophy and a group of primary immunodeficiency will be detected by polymerase chain reaction. Effective methods of treatment and dispensary observation were developed for all diseases. These approaches will significantly reduce infant mortality and improve the quality of life of identified patients during preclinical detection.

Perspectives and limitations of whole exome based neonatal screening


The main aim of neonatal screening is the identification of diseases in newborns period for urgent intervention. Screening tests were developed and introduced into practice to detect specific disease. Next-generation sequencing technologies have increased the possibility to detect genetic disorders in newborns without the manifestation. These approaches give a chance to start a treatment or correction of symptoms as early as possible. The review highlights the history of newborn screening and describes the existing experience of projects with next-generation sequencing methods. Some diseases were given as an example. In some cases, exome sequencing but not classical screening tests can detect the condition, demonstrating the relevance of further development and the introduction of genetic methods for an examination of newborns. Limitations of exome sequencing that need to be taken into account, ethical issues that arise in decision-making, and economic benefits of using exome sequencing in screening programs were described.

Criteria of phenotype assessment of newborn for the group formation with increased risk of genetic diseases


Newborn screening for genetic diseases is widely used in neonatal practice around the world. It traditionally includes the study of biochemical markers, which level suggests genetic diseases. In recent years, the possibility of expanding screening through the use of various methods of molecular genetic testing, including new-generation sequencing (NGS) discussed. However, advanced genetic screening and other diagnostic methods require the identification of a specific high-risk group. This article presents a version of the assessment of the phenotype of newborn infants and clinical criteria for inclusion in the group of increased risk of genetic diseases.

Possibilities and limitations of the use of echocardiography by an intensive care physician in neonatal intensive care


The practical application of echocardiography by clinicians (anesthesiologists and neonatologists) to grasp the pathophysiology of changes in hemodynamic status is increasingly being used in intensive care units under various guidelines. The clinical review focuses on the use of targeted neonatal echocardiography as a tool for an extended assessment of the hemodynamic condition of newborns for the appointment of pathogenetically based treatment. The pathophysiological basis of hemodynamic disorders in newborns in critical condition is given and various methods of echographic assessment of myocardial contractility, preload, and afterload with consideration of their advantages and limitations are highlighted in detail. The development of unified algorithms for evaluating hemodynamics using optimal echocardiographic indicators and the standardization of training is necessary for the integration of targeted neonatal echocardiography in intensive care units and for improving the effectiveness of treatment of newborn children.

Clinical case

Patients with bronchopulmonary dysplasia are at risk of severe bronchiolitis caused by respiratory syncytial virus


The article presents the clinical observation of a premature infant with bronchopulmonary dysplasia who developed severe acute respiratory syncytial virus (RSV) bronchiolitis.

The different data were presented in the article. We demonstrated the epidemiology, etiology, diagnostics, and therapy of acute bronchiolitis. The passive immunization with palivizumab and its efficacy in preventing RSV lower respiratory tract infection showed. The number of it prescriptions in Moscow’s region have estimated in the article. Analysis of the therapy, clinical, laboratory and radiological findings of acute RSV bronchiolitis was analyzed in a comparison of modern medical literature.

The perinatal hypophosphatasia: A case report and review of the literature


Hypophosphatasia – is a rare genetic disorder that reveals by bone and tooth mineralization defects and lack of tissue-nonspecific alkaline phosphatase function. The different forms of the disease, from perinatal lethal to adult benign were known. The most important biochemistry marker of HPP (hypophosphatasia) is low alkaline phosphatase activity in the blood serum. Detection of mutations in the ALPL gene allows us to confirm the diagnosis. Enzyme replacement therapy is used to treat hypophosphatasia by the recombinant human ALP. This clinical report presents a case of early diagnosis of perinatal hypophosphatasia confirmed by a molecular genetic test.

Lawyer column

Prevention of claims and complaints of patients to medical organizations: practical advice from a lawyer


The article examines the legal aspects of making claims and complaints from patients, examines typical cases of patients contacting medical organizations with complaints and claims, and suggests ways to resolve “medical conflicts”.


Children with palliative status. Communication with parents who are in the stage of denial


The palliative status of a child causes a lot of stress for parents. This paper describes 5 main psychological reactions in response to information that a child is incurable. Variants of denial stage manifestation depending on the parent’s personality type are considered in detail, and options for interaction on the part of medical personnel are also proposed.

International practice

Neuroprotective therapies in the NICU in term infants: present and future


Outcomes of neonatal encephalopathy (NE) have improved since the widespread implementation of therapeutic hypothermia (TH) in high-resource settings. While TH for NE in term and near-term infants has proven beneficial, 30–50% of infants with moderate-tosevere NE treated with TH still suffer death or significant impairments. There is therefore a critical need to find additional pharmacological and non-pharmacological interventions that improve the outcomes for these children. There are many potential candidates; however, it is unclear whether these interventions have additional benefits when used with TH. Although primary and delayed (secondary) brain injury starting in the latent phase after HI are major contributors to neurodisability, the very late evolving effects of tertiary brain injury likely require different interventions targeting neurorestoration. Clinical trials of seizure management and neuroprotection bundles are needed, in addition to current trials combining erythropoietin, stem cells, and melatonin with TH.

News of Cochrane database

News of Cochrane database (# 4, 2022)

Neonatology news

News (# 4, 2022)


"First Persons": a new format of the prestigious award

Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425
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