Inborn Errors of Immunity in Early Childhood: Essential Insights for the Neonatologist.

BACKGROUND: Inborn errors of immunity (IEI), formerly referred to as primary immunodeficiencies, manifest with a wide range of symptoms such as increased susceptibility to infections, immune dysregulation, and autoinflammation. Although most cases manifest in childhood, onset during the neonatal period is rare but potentially critical. SUMMARY: In this review, we discuss the diverse clinical presentations of IEI and the specific challenges they pose to neonatologists. Rather than detailing every molecular defect, we focus on common clinical scenarios in neonates and young infants, providing practical diagnostic strategies to ensure timely and effective therapeutic interventions. KEY MESSAGES: Clinical presentations of IEI in neonates may include delayed separation of the umbilical cord, skin rashes such as eczema and erythroderma, and recurrent episodes of inflammation. We also highlight immunological emergencies that require urgent medical attention, such as hyperinflammatory activity mimicking acute neonatal liver failure, sometimes seen in hemophagocytic lymphohistiocytosis. We also discuss appropriate medical action in the case of a positive newborn screening for severe T-cell defects. Early medical intervention in such circumstances may significantly improve outcomes.

Limits of Viability: Perspectives of Portuguese Neonatologists and Obstetricians.

INTRODUCTION: Advances in neonatal care have improved the prognosis in extremely preterm infants. The gestational age considered for active treatment has decreased globally. Despite implemented guidelines, several studies show variability in practice. The aim of this study was to understand theperspectives of Portuguese neonatologists and obstetricians regarding the management of extremely preterm infants. METHODS: An online survey was sent through the Portuguese Neonatology Society and the Portuguese Society of Obstetrics and Maternal-Fetal Medicine from August to September 2023. RESULTS: We obtained 117 responses: 53% neonatologists, 18% pediatricians, and 29% obstetricians, with 62% having more than 10 years of experience. The majority (80%) were familiar with the Portuguese Neonatology Society consensus on the limits of viability and 46% used it in practice; 62% were unaware of Portuguese morbidity-mortality statistics associated with extremely preterm infants. Most (91%) informed parents about morbiditymortality concerning the gestational age more frequently upon admission (64%) and considered their opinion in the limit of viability situations (95%). At 22 weeks gestational age, 71% proposed only comfort care, while at 25 and 26 weeks, the majority suggested active care (80% and 96%, respectively). Less consensus was observed at 23 and 24 weeks. At 24 weeks, most obstetricians offered active care with the option of comfort care by parental choice (59%), while the neonatology group provided active care (65%), p < 0.001. Regarding the lower limit of gestational age for in utero transfer, corticosteroid administration, cesarean section for fetal indication, neonatologist presence during delivery, and endotracheal intubation; neonatologists considered a lower gestational age than obstetricians (23 vs 24 weeks; p = 0.036; p < 0.001; p < 0.001; p = 0.021; p < 0.001, respectively). CONCLUSION: Differences in perspectives between obstetricians and neonatologists in limits of viability situations were identified. Neonatologists considered a lower gestational age in various scenarios and proposed active care earlier. Standardized counseling for extremely preterm infants is crucial to avoid ambiguity, parental confusion, and conflicts in perinatal care.

Detection of congenital heart disease by neonatologist performed cardiac ultrasound in preterm infants.

OBJECTIVE: We aimed to assess the frequency of de novo congenital heart disease (CHD) detection via neonatologist-performed cardiac ultrasounds (NPCU) in premature infants born at <30 weeks of gestation. STUDY DESIGN: In this cross-sectional study (2004-2023) clinicians completing NPCU flagged de novo suspected CHD. All flagged NPCUs were cross-checked with cardiologists to confirm CHD diagnosis. RESULTS: There were 2088 out of 3739 infants (56%) with at least one NPCU; 294 (14%) with cardiology referral. CHD diagnosis was confirmed in 109 of the 2088 (5.2%) infants. All major and critical CHD on NPCU imaging were suspected during NPCU and had prompt referral to the cardiology department. CONCLUSION: De novo presentation of significant CHD continues to occur in the preterm population, emphasizing the need for recognizing CHD during NPCU. Optimizing NPCU training may benefit patients with early cardiology referral and review.

Current perception and barriers to implementing lung ultrasound in Canadian neonatal intensive care units: a national survey.

Despite the growing body of literature supporting the use of point-of-care lung ultrasound (POC-LU) in neonates, its adoption in Canadian neonatal intensive care units (NICUs) remains limited. This study aimed to identify healthcare providers' perceptions and barriers to implementing POC-LU in Canadian NICUs. We conducted an electronic survey targeting neonatologists, neonatal fellows, neonatal nurse practitioners, and registered respiratory therapists in 20 Canadian NICUs. The survey comprised a 28-item questionnaire divided into four sections: (1) participants' demographics and availability of POC-LU equipment, (2) experience and interest in POC-LU learning, (3) perception of POC-LU as a diagnostic tool, and (4) barriers to POC-LU implementation in NICUs. A total of 194 participants completed the survey, with neonatologists comprising the majority (45%). Nearly half of the participants (48%) reported prior experience with POC-LU. The most prevalent indications for POC-LU use were diagnosis of pleural effusion (90%), pneumothorax (87%), and respiratory distress syndrome (76%). Participants identified the primary barrier to POC-LU adoption as the lack of trained providers available for both training and clinical integration. Notably, most respondents (87%) expressed keen interest in learning neonatal POC-LU. A subgroup analysis based on the responses collected from NICU-directors of 12 institutions yielded results consistent with those of the overall participant pool.     Conclusion: This survey underscores the perceived importance of POC-LU among NICU healthcare providers. A Canadian consensus is required to facilitate the development of widespread training programs as well as standardized clinical practice guideline for its implementation. What is Known: • In recent years, point-of-care lung ultrasound (POC-LU) has emerged as an important tool in neonatology, revolutionizing the assessment and management of critically ill infants. However, its adoption in Canadian Neonatal Intensive Care Units remains limited. What is New: • Most Canadian healthcare providers showed high level of interest in learning POC-LU techniques. Additionally, POC-LU was perceived as a useful tool for diagnosis and guiding intervention in various neonatal respiratory diseases. Nonetheless, the lack of expertise emerged as the primary barrier to its adoption and practice across different groups of participants regardless of their clinical experience level.

At the threshold of viability: to resuscitate or not to resuscitate - the perspectives of Israeli neonatologists.

OBJECTIVE: This study aims to examine the perspectives of neonatologists in Israel regarding resuscitation of preterm infants born at 22-24 weeks gestation and their consideration of parental preferences. The factors that influence physicians' decisions on the verge of viability were investigated, and the extent to which their decisions align with the national clinical guidelines were determined. STUDY DESIGN: Descriptive and correlative study using a 47-questions online questionnaire. RESULTS: 90 (71%) of 127 active neonatologists in Israel responded. 74%, 50% and 16% of the respondents believed that resuscitation and full treatment at birth are against the best interests of infants born at 22, 23 and 24 weeks gestation, respectively. Respondents' decisions regarding resuscitation of extremely preterm infants showed significant variation and were consistently in disagreement with either the national clinical guidelines or the perception of what is in the best interest of these newborns. Gender, experience, country of birth and the level of religiosity were all associated with respondents' preferences regarding treatment decisions. Personal values and concerns about legal issues were also believed to affect decision-making. CONCLUSION: Significant variation was observed among Israeli neonatologists regarding delivery room management of extremely premature infants born at 22-24 weeks gestation, usually with a notable emphasis on respecting parents' wishes. The current national guidelines do not fully encompass the wide range of approaches. The country's guidelines should reflect the existing range of opinions, possibly through a broad survey of caregivers before setting the guidelines and recommendations.

Variability in Diagnosis and Management of Hypoglycemia in Neonatal Intensive Care Unit.

OBJECTIVE: Hypoglycemia, the most common metabolic derangement in the newborn period remains a contentious issue, not only due to various numerical definitions, but also due to limited therapeutical options which either lack evidence to support their efficacy or are increasingly recognized to lead to adverse reactions in this population. This study aimed to investigate neonatologists' current attitudes in diagnosing and managing transient and persistent hypoglycemia in newborns admitted to the Neonatal Intensive Care Unit (NICU). METHODS: A web-based electronic survey which included 34 questions and a clinical vignette was sent to U.S. neonatologists. RESULTS: There were 246 survey responses with most respondents using local protocols to manage this condition. The median glucose value used as the numerical definition of hypoglycemia in first 48 hours of life (HOL) for symptomatic and asymptomatic term infants and preterm infants was 45 mg/dL (2.5 mmol/L; 25-60 mg/dL; 1.4-3.3 mmol/L), while after 48 HOL the median value was 50 mg/dL (2.8 mmol/L; 30-70 mg/dL; 1.7-3.9 mmol/L). There were various approaches used to manage transient and persistent hypoglycemia that included dextrose gel, increasing caloric content of the feeds using milk fortifiers, using continuous feedings, formula or complex carbohydrates, and use of various medications such as diazoxide, glucocorticoids, and glucagon. CONCLUSION: There is still large variability in current practices related to hypoglycemia. Further research is needed not only to provide evidence to support the values used as a numerical definition for hypoglycemia, but also on the efficacy of current strategies used to manage this condition. KEY POINTS: · Numerical definition of glucose remains variable.. · Strategies managing transient and persistent hypoglycemia are diverse.. · There is a need for further research to investigate efficacy of various treatment options..

A National Survey of Neonatologists' Perspectives on Probiotics Use in Neonatal Intensive Care Units in the U.S.A.

Introduction: Most recent clinical reports from the American Academy of Pediatrics (AAP) concluded current evidence does not support routine universal administration of probiotics to preterm infants, particularly those with birth weight <1000 grams. Despite this, the use of probiotics is increasing in US neonatal intensive care units (NICU).Objectives: Collaborating with the Perinatal Neonatal Medicine of AAP, we conducted a national survey to obtain neonatologist opinion on probiotics use.Methods: Survey questionnaires were sent to 3000 neonatologists via email.Results: Of 3000 potential respondents, 249 (8.3 %) completed the survey. Seventy-five (30%) neonatologists working in 23 different NICUs reported using probiotics in their practice, while 168 (70%) neonatologists working in 54 different NICUs reported not using probiotics. Of those not currently use probiotics, 49% indicated they would consider using probiotics in the future vs. 12% indicating they would not use probiotics. The most common indication for probiotics use was average gestational age < 32 weeks and mean birth weight < 1500 grams. Probiotics were discontinued at mean gestational age of 35 weeks. Respondents who prescribe probiotics were more likely to work in a setting without fellowship or residency training (48% vs 20%). Probiotics users were more often from the West (29 % vs 7%) and less often from Northeast (5% vs 34%) compared to non-users. The proportion of those using probiotics did not significantly differ by NICU size, NICU level, or years working in a NICU. Similac Tri-Blend, Evivo, and Culturelle were the top three probiotics used in the respondent's NICU.Conclusion: Though a majority of respondents are not currently using probiotics in their NICU, a large number of nonusers are interested in using probiotics in the future. Differences continue to exist in the brand of probiotics used in US NICUs.

Reporting interhospital neonatal intensive care transport: international five-step Delphi-based template.

OBJECTIVE: To develop a general and internationally applicable template of data variables for reporting interhospital neonatal intensive care transports. DESIGN: A five-step Delphi method. SETTING: A group of experts was guided through a formal consensus process using email. SUBJECTS: 12 experts in neonatal intensive care transports from Canada, Denmark, Norway, the UK and the USA. Four women and eight men. The experts were neonatologists, anaesthesiologists, intensive care nurse, anaesthetic nurse, medical leaders, researchers and a parent representative. MAIN OUTCOME MEASURES: 37 data variables were included in the final template. RESULTS: Consensus was achieved on a template of 37 data variables with definitions. 30 variables to be registered for each transport and 7 for annual registration of the system of the transport service. 11 data variables under the category structure, 20 under process and 6 under outcome. CONCLUSIONS: We developed a template with a set of data variables to be registered for neonatal intensive care transports. To register the same data will enable larger datasets and comparing services.

Corticosteroid use in neonatal hypotension: A survey of Canadian neonatologists.

OBJECTIVE: To assess prescribing practices and perspectives regarding the use of corticosteroids in the management of neonatal hypotension. METHODS: Cross-sectional questionnaire-based electronic survey of neonatologists (n = 206) practicing at tertiary neonatal intensive care units across 30 academic centres in Canada. RESULTS: The overall response rate was 33% (72/206), with a completion rate was 94%. Most (48/72, 64%) worked in a unit that covered both inborn and outborn infants, and 53% (37/70) worked in units with >100 very low birth weight infants admitted annually. Among the 72 respondents, 39% use a loading dose, of whom most (57%) use 2 mg/kg. Dosing ranges were variable, most using either 0.5 mg/kg or 1 mg/kg, q6h. Among the 56% (40/72) of neonatologists who reported measuring cortisol before initiation of hydrocortisone, cut-offs for initiation of hydrocortisone varied from <100 to <500 nmol/L, most of whom (48%) used <100 nmol/L. Of 71 respondents, 92% (65) indicated that a randomized control trial examining the use of corticosteroids in neonatal hypotension is needed, of whom 52% (37) indicated that the intervention group should receiving hydrocortisone after one vasopressor/inotrope. CONCLUSIONS: This survey provides insight into the prescribing practices of tertiary neonatologists with regards to the use of corticosteroids in neonatal hypotension. While corticosteroids are frequently prescribed, there is variability in the indication, dosing, and duration of corticosteroid use. The findings from this survey can be used to inform further research, including a clinical trial, regarding the practice in the management of neonatal hypotension.

Central nervous system tumours in neonates: what should the neonatologist know?

Central nervous system (CNS) tumours in neonates are relatively rare and present differently when compared with those occurring later in childhood in terms of aetiology, clinical features, location, histology and prognosis. The clinical presentation is extremely variable. Even if the most frequent clinical sign is a macrocephaly, there are many other non-specific symptoms associated. The prognosis is usually poor with overall survival of less than 30%. Surgery continues to be the primary treatment for neonatal CNS tumours, aiming for a gross total resection, directly correlated with prognosis and the overall outcome. The chemotherapy is the only adjuvant therapy whereas the radiotherapy is avoided under three years of age because of the severe sequelae. Hence the importance of molecular characterization of these neoplasms in order to improve the accuracy of the diagnosis and identify new therapeutic targets. The aim of this review is to describe the main characteristics of these tumours and the recent advances in their treatment in order to recognize these pathologies in the prenatal period and create a multidisciplinary team providing the best possible treatment while minimising the risk of long-term complications. Neonatologists play a key role in the early detection, diagnostic evaluation, management and supportive care of these neonates.  Conclusion: The aim of this review is to describe the main characteristics of these tumours and the recent advances in their treatment in order to ensure the essential knowledge that will help the neonatologist identify them and create a multidisciplinary team providing the best possible treatment while minimising the risk of long-term complications. What is Known: • Neonatal CNS tumours are relatively rare and their early identification is important to identify the best diagnostic-therapeutic management. • Surgery is the main treatment of neonatal CNS tumours. The extent of surgical resection directly correlates with prognosis and outcome. What is New: • Predisposing conditions such as Cancer Predisposition Syndromes must be considered. • Targeted drugs and other therapeutic strategies can be identified through molecular characterization.

Implicit Bias and Health Disparities Education in the Neonatal Intensive Care Unit.

OBJECTIVE: This study aimed to characterize implicit bias (IB) and health disparities (HD) education in neonatal-perinatal medicine (NPM), including current educational opportunities, resources, and barriers. STUDY DESIGN: A national web-based survey was sent to NPM fellows, neonatologists, and frontline providers after iterative review by education experts from the National Neonatology Curriculum Committee. Quantitative data were analyzed with chi-square and Fisher's exact tests. Qualitative data were evaluated using thematic analysis. RESULTS: Of the 452 NPM survey respondents, most desired additional IB (76%) and HD (83%) education. A greater proportion of neonatologists than fellows received IB (83 vs. 57%) and HD (87 vs. 74%) education. Only 41% of neonatologists reported that their institution requires IB training. A greater proportion of fellows than neonatologists expressed dissatisfaction with the current approaches for IB (51 vs. 25%, p < 0.001) and HD (43 vs. 25%, p = 0.015) education. The leading drivers of dissatisfaction included insufficient time spent on the topics, lack of specificity to NPM, inadequate curricular scope or depth, and lack of local educator expertise. A minority of faculty who were tasked to educate others have received specific educator training on IB (21%) and HD (16%). Thematic analysis of survey free-text responses identified three main themes on the facilitators and barriers to successful IB and HD education: individual, environmental, and curricular design variables. CONCLUSION: NPM trainees and neonatologists desire tailored, active, and expert-guided IB and HD education. Identified barriers are important to address in developing an effective IB/HD curriculum for the NPM community. KEY POINTS: · There is a gap between the current delivery of IB/HD education and the needs of the NPM community.. · NPM trainees and neonatologists desire tailored, active, and expert-guided IB and HD education.. · A successful curriculum should be widely accessible, NPM-specific, and include facilitator training..

Assistência ao parto pélvico / Breech birth assistance

É imprescindível retomar o ensino da versão cefálica externa e das manobras tocúrgicas no parto pélvico vaginal, tanto em litotomia quanto na posição vertical. A adoção de protocolos rígidos para o parto pélvico vaginal planejado correlaciona-se com taxa de sucesso de aproximadamente 70% e taxas de resultados adversos inferiores a 7%. A morbimortalidade fetal e neonatal é semelhante à de cesárea planejada. Gestantes elegíveis para o parto pélvico vaginal devem concordar com a via de parto, possuir baixo risco de complicações e ser assistidas por profissionais com experiência em parto vaginal de apresentações anômalas e suas manobras obstétricas. Cesariana prévia e prematuridade entre 32 e 36 semanas não são contraindicações absolutas ao parto pélvico vaginal, devendo ser individualmente avaliadas na decisão da via de parto. Neonatologistas devem estar presentes no nascimento de fetos pélvicos, e um exame neonatal completo deve ser realizado. A rotação posterior do dorso fetal, o prolapso de cordão umbilical, a deflexão dos braços e/ou do polo cefálico e o encarceramento da cabeça derradeira são as principais distocias relacionadas à assistência ao parto pélvico por via vaginal. Todo profissional que assiste parto pélvico vaginal deve estar capacitado para a resolução adequada desses eventos. No parto pélvico vaginal em litotomia, as principais manobras para o auxílio ao desprendimento da pelve fetal são a tração inferior bidigital na prega inguinal e a manobra de Pinard; para o desprendimento do tronco fetal, as de Rojas, Deventer-Miler e Pajot; e para o desprendimento da cabeça derradeira, as de Mauriceau, Bracht, Champetier de Ribes e Praga e o parto vaginal operatório com o fórcipe de Piper. As posições não litotômicas no parto pélvico vaginal se associam à redução dos períodos de dilatação e expulsão, da taxa de cesariana, da necessidade de manobras para extração fetal e da taxa de lesões neonatais. No parto pélvico vaginal assistido na posição de quatro apoios, os aspectos a serem observados durante o desprendimento do corpo fetal incluem o tônus dos membros inferiores fetais, a rotação correta do tronco fetal (abdome fetal voltado para o dorso materno), o ingurgitamento vascular do cordão umbilical, a presença dos cotovelos e das pregas do tórax fetal e a dilatação anal materna. No parto pélvico vaginal assistido na posição de quatro apoios, mais da metade dos fetos se desprendem sem a necessidade de nenhuma manobra. Habitualmente, apenas duas manobras podem ser necessárias: uma para auxílio à saída dos ombros ("rotação 180°-90°") e outra para desprendimento da cabeça fetal ("Frank nudge").

Platelet transfusion practices among neonatologists in Saudi Arabia: A nationwide cross-sectional survey.

The etiologies of thrombocytopenia are highly diverse; however, early neonatal thrombocytopenia might be more common among extremely low-weight neonates. Therefore, in this study, we aimed to examine the current neonatal platelet (PLT) transfusion practices in Saudi Arabia. This is a cross-sectional online survey study that was conducted between October and December 2022. Convenience sampling was used to recruit the participants. In this study, we developed a questionnaire based on an extensive literature review to examine current neonatal PLT transfusion practices. A total of 81 neonatologists participated. The vast majority of them (85.2%) were practicing in a level 3 neonatal intensive care unit, with 60.0% of them reporting that they transfuse PLTs over 1 hour. Around 53% reported that they typically order 10 mL/kg per PLT transfusion. Up to 34.6% of the study participants reported that they use pooled whole-blood-derived PLT products in their practicing unit. Almost half (48.0%) of the study participants reported that they have written guidelines for PLT transfusion in their practicing unit, with 81.1% reporting that the PLT transfusion threshold was stated in the guidelines. Neonatal thrombocytopenia is typically treated with PLT transfusions. PLT transfusion criteria should be lowered in light of recent evidence suggesting that doing so may be counterproductive. However, there is some disagreement about whether a PLT count constitutes a medical emergency requiring a transfusion for a newborn baby. Furthermore, there is a great deal of variation in the administration of PLT infusions in Saudi Arabia because of the absence of clear protocols. Strict neonatal PLT transfusion standards and carefully planned clinical research are needed to address the risks and/or benefits of these diverse methods.

Academic neonatologist-a species at the brink of extinction?

Neonatology is a field that is currently facing many challenges. These challenges include outdated work models in clinical environments with increasing acuity and patient workloads, physician burnout exacerbated by gender inequity and the recent COVID-19 pandemic, and inappropriate metrics to measure clinical productivity. Academic neonatologists have additional missions that include research, teaching, and scholarly productivity in the setting of an increasing clinical workload and reduced time and support for teaching and research. Within the university-based practice setting, reimbursement, and salary structure result in relatively low compensation for neonatologist clinical productivity and time. These challenges threaten the sustainability of academic neonatology as a field. Working towards potential solutions such as creation of sustainable, transparent work models, and aligned funds flow within university-based settings is imperative.

Malaria in Pregnancy: Key Points for the Neonatologist.

In malaria-endemic regions, infection with the malaria parasite Plasmodium during pregnancy has been identified as a key modifiable factor in preterm birth, the delivery of low-birthweight infants, and stillbirth. Compared with their nonpregnant peers, pregnant persons are at higher risk for malaria infection. Malaria infection can occur at any time during pregnancy, with negative effects for the pregnant person and the fetus, depending on the trimester in which the infection is contracted. Pregnant patients who are younger, in their first or second pregnancy, and those coinfected with human immunodeficiency virus are at increased risk for malaria. Common infection prevention measures during pregnancy include the use of insecticide-treated bed nets and the use of intermittent preventive treatment with monthly doses of antimalarials, beginning in the second trimester in pregnant patients in endemic areas. In all trimesters, artemisinin-combination therapies are the first-line treatment for uncomplicated falciparum malaria, similar to treatment in nonpregnant adults. The World Health Organization recently revised its recommendations, now listing the specific medication artemether-lumefantrine as first-line treatment for uncomplicated malaria in the first trimester. While strong prevention and detection methods exist, use of these techniques remains below global targets. Ongoing work on approaches to treatment and prevention of malaria during pregnancy remains at the forefront of global maternal child health research.

The Role of the Neonatologist in Fetuses Diagnosed with Congenital Heart Disease.

Prenatal diagnosis of congenital heart disease (CHD) can decrease preoperative morbidity and mortality. Delivery room planning can improve cardiac hemodynamics and time to critical catheter and surgical interventions. Care algorithms have defined lesion-specific level-of-care assignments and delivery room action plans that can facilitate team-based approaches to safe deliveries. Neonatologists play critical roles in the care of fetuses diagnosed with CHD, from the time of diagnosis through the postnatal intensive care unit (ICU) stays. Prenatally, neonatologists are members of the multidisciplinary counseling teams, with expertise to counsel expectant parents about what to expect during the ICU stay, which is especially valuable in CHD associated with extracardiac or genetic anomalies. Neonatologists' role in delivery planning includes identification of the optimal delivery location and allocation of appropriate personnel and resources. After delivery, postnatal care considerations include hemodynamic stability, optimization of end-organ function, genetics consultation, developmentally appropriate care practices to encourage caregiver bonding, and optimization of care to improve neurodevelopmental outcomes of neonates with CHD.