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Aims: Gastro‐oesophageal reflux is common in newborns, especially in premature infants. Treatment by medication is controversial as the drugs prescribed have not been consistently proven to be effective and are known to have adverse effects. This study sought to identify trends in the prescription of anti‐reflux medication in a large group of French neonatal units. Methods: Data on prescriptions of anti‐reflux treatments—proton pump inhibitors (PPIs), antacids, histamine‐2 receptor antagonists (H2RAs), and prokinetics—from 2014 to 2022 for infants with a corrected gestational age <45 weeks, were extracted from a prescription database (Logipren®) used by 63 French neonatal units, and then analysed. Results: Of all infants recorded in the database during the study period (n = 152 743), 10.2% (n = 15 650) were prescribed anti‐reflux medication (95% confidence interval [CI] 10.0–10.4%), mainly as monotherapy (77.5%). The rate was higher in the subgroup of preterm infants born before 28 weeks of gestation (n = 9493) (20.6%, 95% CI 19.8–21.4%; n = 1956). PPIs were the most commonly prescribed anti‐reflux medications (6.9% of infants, 95% CI 6.8–7.0), followed by antacids (5.2%, 95% CI 5.1–5.3%), while H2RAs and prokinetics were rarely prescribed. Over the period, the prescription rate remained stable for PPIs, decreased for H2RAs (τ = −0.86, P =.02), and, among preterm infants born at gestational ages of 28–31 or 32–36 weeks, increased for antacids. Conclusions: Anti‐reflux medications were frequently prescribed by neonatal units, especially for extremely premature infants. Most of these prescriptions were for PPIs and antacids. [ABSTRACT FROM AUTHOR]

Introduction: There is variability in clinical practice regarding the number of radiographic views required to accurately determine umbilical venous catheter (UVC) tip position. Some units prefer performing a single anteroposterior (AP) view and others do both AP and lateral views. The aim of this study was to compare the need for one versus two radiographical views to accurately determine UVC tip position. Methods: Radiographs of 382 infants (all gestations) from two level six neonatal units were included in the study. Patients with congenital anomalies and those who had adjustment of UVC position between AP and lateral films being performed were excluded. Six clinicians reviewed anonymized AP only images and documented UVC tip position. Subsequently, they reviewed both AP and lateral views and again documented the UVC tip position. Results were compared to the expert consensus which was taken from the consensus of two paediatric radiologists. Results: The study population had a mean gestational age of 32.8 weeks and birth weight of 2190 g, with 58% males. The UVC tip positions were accurately determined 76% times by the AP view alone and 82% times by using both the AP and lateral views (P < 0.001). The low placed UVC tip position which is the most inappropriate for use was more accurately determined by two images (78% times) rather than single image (70% times) (P < 0.001). Conclusions: Utilising both AP and lateral views was superior in accurately determining UVC tip position to AP view alone. [ABSTRACT FROM AUTHOR]

Introduction: Fortified expressed breast milk (FEBM) is a standard of care for premature and low birth weight neonates, but comes with an elevated risk of a rare but re‐emergent pathology called milk curd obstruction (MCO). Little is known about normal sonographic appearances of bowel contents in this feeding setting, making the recognition of abnormalities difficult. Thus, we aimed to describe appearances that may be considered typical pre‐ and post‐fortifier inclusion. Methods: Ten neonates of <32 weeks' gestation or a birth weight of <1,800 g recruited from Auckland City Hospital Neonatal Intensive Care between 1/5/2019 and 10/9/2019 received bowel ultrasounds within 24 h before and 10–14 days after starting FEBM. Bowel contents in six abdominal regions were assigned scores of 1–6 based on increasing solidification. Results: Lower gestational age was correlated with more solid contents on the pre‐fortifier ultrasound (P = 0.02). Fortifier was significantly associated with increasing solidity, particularly in the left abdomen (P < 0.001). The left lower quadrant and rectum accounted for much of this change (P = 0.012 and P = 0.002). One subject who subsequently developed a clinical picture consistent with early MCO had uniquely demonstrated non‐rectal solid contents (score 6). The interobserver kappa score for two assessors was 0.91 (95% CI 0.94–0.99) on still images. Conclusion: This small cohort demonstrated increasing bowel content solidification after breast milk fortification using a novel ultrasound scoring system with good interobserver agreement. Non‐rectal solid contents (score 6) appeared atypical. Ultrasound shows promise for its non‐irradiating diagnostic utility in the setting of early milk curd disease evaluation of the premature neonate. [ABSTRACT FROM AUTHOR]

Aim: To analyse key pregnancy and birth outcomes for First Nations women and children at a Western Sydney metropolitan tertiary referral centre. Methods: The birth and health‐determining characteristics of 470 First Nations infants born at Nepean Hospital in 2018 and their mothers were included in a retrospective audit and compared with a contemporaneous control group of 470 infants and their mothers. Results: Mothers of First Nations infants had significantly higher rates of socioeconomic disadvantage (P < 0.001), psychosocial vulnerability (P < 0.007), mental illness (P < 0.001), teenage pregnancy (P < 0.001), smoking (45.6% vs. 19.4%, P < 0.001) and drug and alcohol use than control mothers (P < 0.001, P < 0.048). First Nations peoples did not have increased rates of maternal morbidity, nor any difference in rates of Caesarean section, resuscitation at birth, NICU admission, preterm birth or low birth weight in multivariable analysis. However, multivariable analysis demonstrated significant associations between low birth weight and maternal smoking (P < 0.001), hypertension (P < 0.01) and drug use (P < 0.01). Conclusions: Despite challenges facing First Nations mothers and infants, our study found no significant difference in maternal morbidity nor adverse birth outcomes for First Nations infants. The study occurred in the context of culturally specific, First Nations‐led antenatal and infant services. Future studies should further investigate relationships between participation in these services and health outcomes. This could identify strengths and areas for improvement in current services, with the goal of further improving outcomes for First Nations peoples through targeted health services that address their psychosocial vulnerabilities and support women to make healthy choices during pregnancy. [ABSTRACT FROM AUTHOR]

High‐flow nasal cannula (HFNC) oxygen therapy, which is important in noninvasive respiratory support, is increasingly being used in critically ill neonates with respiratory failure because it is comfortable, easy to setup, and has a low incidence of nasal trauma. The advantages, indications, and risks of HFNC have been the focus of research in recent years, resulting in the development of the application. Based on current evidence, we developed guidelines for HFNC in neonates using the Grading of Recommendations Assessment, Development and Evaluation (GRADE). The guidelines were formulated after extensive consultations with neonatologists, respiratory therapists, nurse specialists, and evidence‐based medicine experts. We have proposed 24 recommendations for 9 key questions. The guidelines aim to be a source of evidence and reference of HFNC oxygen therapy in clinical practice, and so that more neonates and their families will benefit from HFNC. [ABSTRACT FROM AUTHOR]

Objective: Assessment of COVID-19 vaccine safety in pregnancy using population-based data., Design: Matched case-control study nested in a retrospective cohort., Setting: April 2021-March 2022, England., Population or Sample: All pregnant individuals aged between 18 and 50 years with valid health records., Methods: Individuals identified from the national Maternity Services Data Set (MSDS) had their records linked to hospital admission, national COVID-19 vaccine and COVID-19 testing databases. Matching included participant's age and estimated week of conception. We compared outcomes across multiple COVID-19 vaccine exposures using conditional multivariable logistic regression, adjusting for demographic and health characteristics., Main Outcome Measures: Adverse pregnancy, maternal and neonatal outcomes., Results: 514 013 individuals were included. We found lower odds of giving birth to a baby who was low birthweight (aOR = 0.86, 95% CI: 0.79-0.93), preterm (aOR = 0.89, 95% CI: 0.85-0.92) or who had an Apgar score < 7 at 5 min of age (aOR = 0.89, 95% CI: 0.80-0.98) for individuals who received at least one dose of COVID-19 vaccine during pregnancy. The odds of admission to intensive care unit during pregnancy were lower in those vaccinated (aOR = 0.85, 95% CI: 0.76-0.95). There was no association between vaccination in pregnancy and stillbirth, neonatal death, perinatal death and maternal venous thromboembolism in pregnancy., Conclusions: COVID-19 vaccines are safe to use in pregnancy. Our findings generated important information to communicate to pregnant individuals and health professionals to support COVID-19 maternal vaccination programmes., (© 2024 The Author(s). BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.)

Aim: To compare romantic and sexual relationships between adults born very preterm (VP; <32 weeks of gestation) or with very low birth weight (VLBW; <1500 g) and at term, and to evaluate potential biological and environmental explanatory factors among VP/VLBW participants., Methods: This individual participant data (IPD) meta-analysis included longitudinal studies assessing romantic and sexual relationships in adults (mean sample age ≥ 18 years) born VP/VLBW compared with term-born controls. Following PRISMA-IPD guidelines, 11 of the 13 identified cohorts provided IPD from 1606 VP/VLBW adults and 1659 term-born controls. IPD meta-analyses were performed using one-stage approach., Results: Individuals born VP/VLBW were less likely to be in a romantic relationship (OR 0.49; 95% CI 0.31-0.76), to be married/cohabiting (OR 0.70, 95% CI 0.53-0.92), or to have had sexual intercourse (OR 0.21, 95% CI 0.09-0.36) than term-born adults. If sexually active, VP/VLBW participants were more likely to experience their first sexual intercourse after the age of 18 years (OR 1.93, 95% CI 1.24-3.01) than term-born adults. Among VP/VLBW adults, males, and those with neurosensory impairment were least likely to experience romantic relationships., Conclusions: These findings reflect less optimal social functioning and may have implications for socioeconomic and health outcomes of adults born VP/VLBW., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: Many countries risk failing the Sustainable Development Goal to reduce neonatal mortality to 12 in 1000 live births before 2030, necessitating intervention. This scoping review assesses available evidence from studies implementing smartphone application-based education and clinical decision support in neonatal emergency care in low- and middle-income countries and describes applied assessment tools to highlight gaps in the current literature., Methods: A systematic search on 28 March 2024 of PubMed, Web of Science, and EMBASE identified original research papers published in peer-reviewed journals after 2014 in English. The evaluation was based on Kirkpatrick's framework., Results: In total, 20 studies assessing eight different smartphone applications were included. Participants found applications acceptable and feasible in 11 of 14 studies. Knowledge and/or skills were improved in 11 of 12 studies. Behaviour was assessed in 10 studies by tracking app usage. Patient outcome was assessed in four studies, focusing on perinatal mortality, Basic Newborn Care outcomes and correct assessment of newborns., Conclusion: Data from included studies further strengthens hope that smartphone applications can improve neonatal mortality rates in low- and middle-income countries. However, further research into the effectiveness of these applications is warranted. This review highlights gaps in the current literature and provides guidance for future trials., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Objective: Pregnancy complicated with type B aortic dissection is a rare but devastating condition. Guidelines for managing this condition are lacking. We present our observation and experiences in managing five pregnant women with complicated type B aortic dissection in the second or third trimesters, aiming to gain insights that can aid in proposing an appropriate management strategy., Design: A retrospective study., Setting: Zhongnan Hospital of Wuhan University., Population: Pregnant women with complicated type B aortic dissection., Methods: Clinical data of five pregnant women with complicated type B aortic dissection admitted to Zhongnan Hospital of Wuhan University from January 2022 to June 2023 were collected. The clinical characteristics, treatment strategies, and corresponding maternal and infant outcomes were retrospectively analysed., Main Outcome Measures: Survival of mothers and foetuses., Results: All five study participants were diagnosed with complicated type B aortic dissection by computed tomography angiography (CTA). The range of gestational weeks at admission was 27 weeks + 3 days to 36 weeks + 6 days. The first patient, planning a caesarean section (C-section) followed by thoracic endovascular aortic repair (TEVAR), died of aortic dissection rupture during C-section. Her neonate was successfully rescued. In contrast, the remaining four patients who underwent TEVAR first survived. Among them, three patients underwent single-stage aortic repair and delivery, while one patient received C-section 31 days after TEVAR. Three preterm live births were recorded among these surviving mothers. Neonatal death occurred in one case with a gestational age of 29 weeks + 5 days, who had foetal distress before surgery. During the follow-up period of up to 3 months, no maternal or infant death occurred. No device-related or systemic complications were observed in the surviving mothers after discharge. Routine physical examinations of the four live births showed no abnormalities., Conclusions: For pregnant women with thoracic back pain and high suspicion of aortic dissection, CTA should be conducted promptly to prevent missed or delayed diagnosis. Maternal survival should be prioritised over foetal outcome once diagnosed. TEVAR was demonstrated to be safe and feasible for such patients. For women with complicated type B aortic dissection in late pregnancy, TEVAR followed by C-section may be a promising treatment strategy., (© 2024 The Author(s). BJOG: An International Journal of Obstetrics and Gynaecology published by John Wiley & Sons Ltd.)

Aim: Lung ultrasound (LU) and clinical parameters evaluated during the first postnatal hour potentially predict the length of CPAP therapy in newborns with respiratory distress., Methods: In a single-centre, prospective observational pilot study, 130 newborns ≥36 weeks gestational age were assessed using standardised LU at 30 and 60 min postnatally. Various clinical parameters were evaluated influencing CPAP duration (<1 vs. ≥1 h) using univariate and multivariate analyses., Results: Lung ultrasound score >5, FiO 2  > 0.21 and respiratory acidosis 30 min postnatally were associated with CPAP ≥1 h. Our model showed good diagnostic quality (ROC AUC = 0.87) and was confirmed by classification and regression tree (CART) analysis. Additional LU findings like double lung point and pleural line abnormalities were frequently observed, with good interrater reliability for LU interpretation (ICC = 0.76-0.77)., Conclusion: Newborns with postnatal respiratory distress at risk for prolonged CPAP therapy can be identified based on specific LU and clinical parameters assessed 30 min postnatally. Despite the need for validation in an independent sample, these findings may lay the groundwork for a prediction tool. LU proved feasible and reliable for assessing respiratory status in this population, highlighting potential utility in clinical practice., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Purpose: To explore foveal and parafoveal thickness in adults born preterm with very low birth weight (VLBW) and its association with best-corrected visual acuity (BCVA) and gestational age (GA) compared to adults born at term., Methods: In a joint study of the Helsinki Study of Very Low Birth Weight Adults (Finland) and the NTNU Low Birth Weight Life study (Norway), 106 VLBW and 143 term-born controls were examined with spectral-domain optical coherence tomography and BCVA at age 31-43 years. Thickness of retinal layers was segmented in the foveal and parafoveal areas of the macula., Results: The total retinal thickness in the foveal area was thicker in VLBW adults compared with controls; mean (SD): 292.5 μm (28.2) and 272.4 μm (20.2); p < 0.001, and thinner in the parafoveal areas of the macula. These findings could be explained by a thicker inner retinal layer in the foveal area found in VLBW adults compared with controls (mean difference 20.4 μm; CI: 15.0 to 25.9), where a thicker fovea was associated with lower GA, but not BCVA., Conclusion: Adults born preterm with VLBW had a thicker retina in the foveal area than controls and this was associated with GA, but not with BCVA. These changes seem to be related to a thicker inner retinal layer in VLBW adults. The findings imply that signs of macular underdevelopment are still present in adulthood, but not necessarily related to reduced visual function., (© 2024 The Author(s). Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)

Aim: To identify predictors of morbidity in GO through an analysis of associated anomalies, defect characteristics and management strategies., Methods: PubMed and Ovid EMBASE databases were searched from 2013 to 2023. Primary end points assessed correlation of morbidity with gestational age (GA), birth weight (BW), eviscerated organs, defect size, associated anomalies and management strategy., Results: Twenty articles were included for analysis with a total of 1009 GO. Median GA was 37 weeks (27-41), with a median BW of 2700 g (900-6000). 143 cardiovascular anomalies, 238 pulmonary anomalies, 98 musculoskeletal anomalies, 53 urogenital anomalies, 94 gastrointestinal anomalies, 11 neurological anomalies and 43 chromosomal anomalies were identified. 82 had unspecified additional anomalies, of which 20 and 17 were defined as major and minor, respectively. 123 neonates were managed with primary closure, 206 neonates with staged closure and 312 neonates with conservative treatment. Complications included sepsis, respiratory compromise, feeding dysfunction and closure-related adverse events. Long-term morbidity included home ventilation (n = 72), long-term parental nutrition (n = 36), and delayed motor neurodevelopment (n = 21). Main predictors of morbidity were pulmonary hypertension/hypoplasia, major congenital anomalies, greater defect size and liver herniation., Conclusion: Key predictors of poor outcomes include the presence of additional congenital anomalies, defect size, liver herniation and pulmonary hypertension/hypoplasia., (© 2024 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Aims: The aim of this study, it examine how visits to neonatal intensive care units were made during the COVID-19 process and how mothers were affected by this process., Methods: In this phenomenological study, interviews were conducted with semi-structured questions and face-to-face interviews with the participants. While collecting the data, both observation and interview techniques were used. A content analysis technique was used to analyse the data., Results: The findings of the study were gathered under two themes: 'mothers' recommendations about visits in neonatal intensive care units' and 'mothers' fear of transmitting COVID-19'., Conclusion: As a result, visitor restrictions implemented during the pandemic period hurt on newborns. During the pandemic period, visitor restrictions were imposed in neonatal intensive care units around the world. Unfortunately, in our study, it was determined that this restriction was made. This situation may have adversely affected the mother-infant attachment and the growth and development of the baby and may have led to irreversible problems. Therefore, newborn nurses should give more importance to mother-infant interaction and continue their treatment and care without separating infants from their mothers., (© 2024 John Wiley & Sons Ltd.)

Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or 45,X/46,XX/47,XXX) (~3% of TS). We compared the diagnostic, perinatal, medical, and neurodevelopmental comorbidities of mosaic 45,X/47,XXX (n = 35, 9.4%) with nonmosaic 45,X (n = 142) and mosaic 45,X/46,XX (n = 66). Females with 45,X/47,XXX had fewer neonatal concerns and lower prevalence of several TS-related diagnoses compared with 45,X; however the prevalence of neurodevelopmental and psychiatric diagnoses were not different. Compared to females with 45,X/46,XX, the 45,X/47,XXX group was significantly more likely to have structural renal anomalies (18% vs. 3%; p = 0.03). They were twice as likely to have congenital heart disease (32% vs. 15%, p = 0.08) and less likely to experience spontaneous menarche (46% vs. 75% of those over age 10, p = 0.06), although not statistically significant. Congenital anomalies, hypertension, and hearing loss were primarily attributable to a higher proportion of 45,X cells, while preserved ovarian function was most associated with a higher proportion of 46,XX cells. In this large TS cohort, 45,X/47,XXX was more common than previously reported, individuals were phenotypically less affected than those with 45,X, but did have trends for several more TS-related diagnoses than individuals with 45,X/46,XX., (© 2024 Wiley Periodicals LLC.)

Background: Kangaroo care is an effective intervention to increase survival and improve the health and development of preterm infants. Despite this, implementation of kangaroo care globally remains low. The objectives of this review were to: (a) synthesize evidence on parents' and healthcare practitioners' perceptions, experiences, knowledge of, and attitudes toward kangaroo care of preterm babies in hospital settings; and (b) establish parents' satisfaction with kangaroo care., Methods: Studies of any design were included if they focused on parents' or healthcare practitioners' perceptions, experiences, knowledge of, and attitudes to kangaroo care of preterm babies, or reported parents' satisfaction, and were conducted in hospital settings. The search of seven electronic databases, African Journals Online, World Health Organization regional databases, and a gray literature search was conducted in April/May 2020, and updated in January 2024. Study selection was undertaken by two independent reviewers. Quality assessment using the Mixed Method Appraisal Tool and data extraction were completed by one reviewer with a 10% check by a second reviewer. Data were synthesized narratively using a parallel results convergent integrated design., Results: Thirty-seven studies, 19 quantitative, 16 qualitative, and 2 mixed methods, were included. The findings suggested that while healthcare practitioners generally demonstrated knowledge about kangaroo care, there was a notable minority with insufficient understanding among those who received training. Parents' knowledge, particularly among fathers, was limited. Both healthcare practitioners and parents appeared to have positive attitudes to kangaroo care. Little is known about parental satisfaction with kangaroo care., Conclusions: Most healthcare practitioners were knowledgeable about kangaroo care, but parents had limited knowledge. This review findings suggest a need to enhance parental knowledge of kangaroo care before neonatal unit admission, and training is needed for HCPs to implement kangaroo care consistently., (© 2024 Wiley Periodicals LLC.)

Aim: To investigate the blood pressure (BP) and ductal calibre patterns associated with early ductal closure in very low gestational age (<32 weeks) infants., Methods: Blood pressure was continuously measured intra-arterially among 43 infants participating in a randomised, double-blind trial of 4 days prophylactic intravenous paracetamol. Early closure of the ductus was verified by daily ultrasound examinations. The BP recordings, before and after the verified ductal closure, were examined and compared to control infants without ductal closure. In the 24-h preceding the ultrasound-verified ductal closure, periods of increased BP were searched and identified as suggestive ductal closure time points. In control infants without ductal closure, BP trends were examined during the corresponding age., Results: Mean arterial BP increased significantly before ductal closure (p < 0.001) and stayed higher than in the control group. Mean BP during the 8 h preceding closure significantly predicted the ductal closure [OR 2.094 (95% CI 1.209-3.630), p = 0.008], and multiple potential confounders failed to abolish this association. A linear decrease pattern in ductal calibre was significantly associated with the ductal closure., Conclusion: Blood pressure increased and stabilised before the early ductal closure, offering potential implications on treatment strategies of very premature infants., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: To explore the impact of blood pressure on cognitive outcomes at 18 years of age in individuals born extremely preterm (<28 weeks' gestation) and at term (≥37 weeks' gestation)., Methods: Prospective longitudinal cohort comprising 136 young adults born extremely preterm and 120 matched term controls born in Victoria, Australia in 1991 and 1992. Using linear regression, we analysed the relationships between 24-h mean ambulatory blood pressure, systolic and diastolic hypertension with cognitive outcomes., Results: For both birth groups combined, higher 24-h mean ambulatory blood pressure and systolic hypertension were associated with similar or worse cognitive outcomes. The strongest relationships were between higher 24-h mean ambulatory blood pressure and systolic hypertension with poorer general intellect, visual learning and visual memory. We found little evidence that relationships between ambulatory blood pressure and cognitive outcomes differed by birth group., Conclusion: Higher 24-h mean ambulatory blood pressure and systolic hypertension were associated with poorer cognitive outcomes in individuals born extremely preterm and at term, particularly in general intelligence and visual memory., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: Associations between serum biomarkers S100 calcium-binding protein B (S100B) and neuron-specific enolase (NSE) in neonates with hypoxic-ischaemic encephalopathy (HIE) offer contradicting data in regard to neurocognitive outcome. The aim of our study was to provide another dataset to answer this question if S100B or NSE correlates to outcome in neonatal HIE. In addition, we investigate whether amplitude-integrated EEG (aEEG) or magnetic resonance imaging (MRI) also has predictive value., Methods: In neonates with HIE born in Vorarlberg, Austria, (n = 34) from 2012to 2020, NSE and S100B serum levels were measured on day one. aEEG was installed at admission and MRI performed within 7 days. Surviving children (n = 27) were categorised as good or poor outcome by using an age-appropriate neurocognitive test and a standardised neurological follow-up. Positive and negative predictive values and receiver operating characteristic curves were calculated to evaluate the prognostic value., Results: S100B showed best positive and negative predictive value, 72.7% and 90.5%, respectively, and a significant area under the curve of 0.820. NSE showed a positive and a negative predictive value of 43.8% and 81.3% and an area under the curve of 0.757. Severely abnormal aEEG and abnormal MRI significantly correlated with outcome (p = 0.024 and 0.001 respectively)., Conclusion: S100B and NSE on day one, severely abnormal aEEG and abnormal MRI show a significant correlation and good predictive value for neurocognitive outcome., (© 2024 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)

Background: The increasing complexity of congenital cardiac surgery has led to greater utilization of extracorporeal membrane oxygenation (ECMO) support for children post-surgery. This study aims to identify risk factors for mortality and brain injury in pediatric patients requiring post-cardiotomy ECMO and to evaluate their neurological outcomes., Methods: This retrospective study includes pediatric patients with congenital heart diseases who required ECMO after surgery. Risk factors for in-hospital mortality and brain injury were assessed. Neurodevelopmental status was determined using the Pediatric Cerebral Performance Category (PCPC) Scale at discharge and during follow-up., Results: Between October 2014 and May 2021, 2651 pediatric patients underwent cardiac surgery, with 90 (3.4%) requiring ECMO. The mean age was 0.6 years, ranging from 1 day to 13 years and 7 months. ECMO was implemented for 45 patients due to CPB weaning failure (NW-CPB), 24 due to postoperative low-cardiac output syndrome (LCOS), and 21 for extracorporeal cardiopulmonary resuscitation (E-CPR). ECMO weaning was achieved in 73 patients (81%), with an overall mortality rate of 36%. Pre-implant lactate levels (OR: 1.13, 95% CI: 1.03-1.25; p = 0.009) and peak bilirubin levels (OR: 1.04, 95% CI: 0.87-1.24; p = 0.69) were risk factors for in-hospital mortality. Survival rates were 79% for LCOS, 60% for NW-CPB, and 48% for E-CPR. Brain injury incidence was 33%, with E-CPR being a significant risk factor (p = 0.006) and NW-CPB being protective (p = 0.001). Follow-up in November 2023 showed significant improvement in neurodevelopmental status (p < 0.001)., Conclusion: Elevated pre-implant lactate and elevated bilirubin levels during ECMO are major risk factors for mortality. E-CPR is the primary risk factor for brain injury. Follow-up revealed significant improvements in neurodevelopmental outcomes., (© 2024 The Author(s). Artificial Organs published by International Center for Artificial Organ and Transplantation (ICAOT) and Wiley Periodicals LLC.)

Background: Perinatal mental health (PMH) conditions are associated with adverse outcomes such as maternal suicide, preterm birth and longer-term childhood sequelae. Midwifery continuity of care (one midwife or a small group of midwives) has demonstrated benefits for women and newborns, including a reduction in preterm birth and improvements in maternal anxiety/worry and depression., Aim: To determine if midwifery care provided through a Midwifery Group Caseload Practice model is associated with improved perinatal outcomes for women who have anxiety and depression and/or other perinatal mental health conditions. An EPDS ≥ 13, and/or answered the thought of harming myself has occurred to me and/or women who self-reported a history compared to standard models of care (mixed midwife/obstetric fragmented care)., Methods: A retrospective cohort study using data routinely collected via an electronic database between 1 January 2018 31st of January 2021. The population were women with current/history of PMH, who received Midwifery Caseload Group Practice (MCP), or standard care (SC). Data were analysed using descriptive statistics for maternal characteristics and logistic regression for birth outcomes. One-to-one matching of the MCP group with the SC group was based on propensity scores., Results: 7,359 births were included MCP 12% and SC 88%. Anxiety was the most common PMH with the same proportion affected in MCP and SC. Adjusted odds of preterm birth and adverse perinatal outcomes were lower in the MCP group than the SC group (aOR (95%CI): 0.77 (0.55, 1.08) and 0.81 (0.68, 0.97), respectively) and higher for vaginal birth and full breastfeeding (aOR (95% CI): 1.87 (1.60, 2.18) and 2.06 (1.61, 2.63), respectively). In the matched sample the estimate of a relationship between MCP and preterm birth (aOR (95% CI): 0.88 (0.56, 1.42), adverse perinatal outcomes (aOR (95% CI): 0.83 (0.67, 1.05)) and breastfeeding at discharge (aOR (95% CI): 1.82 (1.30, 2.51)), stronger for vaginal birth (aOR (95% CI): 2.22 (1.77, 2.71))., Conclusion: This study supports positive associations between MCP and breastfeeding and vaginal birth. MCP was also associated with lower risk of adverse perinatal outcomes, though in the matched sample with a smaller sample size, the confidence interval included 1. The direction of the association MCP and preterm birth was negative (protective). However, in the matched sample analysis, the confidence interval was wide, and the finding was also consistent with no benefit from MCP. Randomised controlled trials are required to answer questions around preterm birth and adverse perinatal outcomes and further research is being planned., (© 2024 The Authors. Birth published by Wiley Periodicals LLC.)

Aim: To establish reference ranges of peripheral-muscle regional oxygen saturation (prSO 2 ) and peripheral fractional tissue oxygen extraction (pFTOE) during the first 15 min after birth in stable term neonates., Methods: Secondary outcome parameters of prospective observational studies in healthy term neonates delivered by Caesarean section were analysed. prSO 2 was measured on the right forearm using the INVOS 5100C monitor. pFTOE was calculated out of prSO 2 and arterial oxygen saturation (SpO 2 ). Centile charts (10th-90th) of prSO 2 and pFTOE were defined during the first 15 min after birth., Results: Three-hundred-five term neonates with a mean gestational age and birth weight of 39.0 ± 0.9 weeks and 3321 ± 454 g, respectively, were included. The 50th centiles of prSO 2 were 39% (minute two), 52% (minute five), 71% (minute 10), and 73% (minute 15). The 50th centiles of pFTOE were 0.529 (minute two), 0.378 (minute five), 0.237 (minute 10), and 0.231 (minute 15)., Conclusion: Reference ranges of prSO 2 and pFTOE were established for term neonates delivered by Caesarean section during the immediate transition after birth. These reference ranges increase knowledge of physiological processes taking place immediately after birth and are necessary for possible future clinical applications., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Background: Research on the impact of the COVID-19 pandemic on mothers/childbearing parents has mainly been cross-sectional and focused on psychological symptoms. This study examined the impact on function using ongoing, systematic screening of a representative Ontario sample., Methods: An interrupted time series analysis of repeated cross-sectional data from a province-wide screening program using the Healthy Babies Healthy Children (HBHC) tool assessed changes associated with the pandemic at the time of postpartum discharge from hospital. Postal codes were used to link to neighborhood-level data. The ability to parent or care for the baby/child and other psychosocial and behavioral outcomes were assessed., Results: The co-primary outcomes of inability to parent or care for the baby/child were infrequently observed in the pre-pandemic (March 9, 2019-March 15, 2020) and initial pandemic periods (March 16, 2020-March 23, 2021) (parent 209/63,006 (0.33%)-177/56,117 (0.32%), care 537/62,955 (0.85%)-324/56,086 (0.58%)). Changes after pandemic onset were not observed for either outcome although a significant (p = 0.02) increase in slope was observed for inability to parent (with questionable clinical significance). For secondary outcomes, worsening was only seen for reported complications during labor/delivery. Significant improvements were observed in the likelihood of being unable to identify a support person to assist with care, need of newcomer support, and concerns about money over time., Conclusions: There were no substantive changes in concerns about ability to parent or care for children. Adverse impacts of the pandemic may have been mitigated by accommodations for remote work and social safety net policies., (© 2024 The Authors. Birth published by Wiley Periodicals LLC.)

Aim: To describe glucose homeostasis disturbances (dysglycaemia) in very low-birthweight infants (<1500 g) during the admission period and explore associated risk factors., Methods: The LIGHT (very low-birthweight infants - glucose and hormonal profile over time) study was a prospective observational cohort study that included 49 very low-birthweight infants admitted to the tertiary neonatal intensive care unit in Umeå, Sweden, during 2016-2019. All glucose concentrations (n = 3515) sampled during the admission period were registered., Results: Hyperglycaemia >10 mmol/L and hypoglycaemia <2.6 mmol/L were registered in 63% and 55% of the infants, respectively. Onset of dysglycaemia occurred almost exclusively in the first postnatal week. Hyperglycaemia followed 15% of corticosteroid doses given; all were preceded by pre-existing hyperglycaemia. Pre-existing hyperglycaemia was found in 66.7% of hyperglycaemic infants who received inotrope treatment. Upon commencement, 72.5% of antimicrobial treatments given were neither preceded nor followed by hyperglycaemia., Conclusion: Dysglycaemia was common in very low-birthweight infants. Daily means of glucose concentrations seemed to follow a postmenstrual age-dependent pattern, decreasing towards term age suggesting a postmenstrual age-dependent developmental mechanism. The primary mechanism causing hyperglycaemia was independent of sepsis, and corticosteroid and inotrope treatments. No hypoglycaemia was registered during ongoing insulin treatment., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: Skin-to-skin contact (SSC) immediately after birth may improve breastfeeding outcomes. This study explored the effect of the duration of SSC in the delivery room on breastfeeding quality and duration., Methods: In this prospective observational cohort study, mother-infant pairs practising SSC were categorised into two groups based on SSC duration (≤45 or >45 min). Outcomes included breastfeeding quality in the delivery room and at 24 h of age assessed by the Infant-Breastfeeding Assessment Tool (IBFAT) score, and long-term breastfeeding duration up to 6 months while accounting for potential confounding variables., Results: The study included 72 mother-infant pairs. SSC for more than 45 min was significantly correlated with longer immediate breastfeeding (65 vs. 19 min, p < 0.001) and higher breastfeeding quality scores immediately after birth (IBFAT score of 10 vs. 7, p < 0.001). Regarding the long-term effect, infants in the extended SSC group were breastfed longer (5.2 vs. 3.7 months, p = 0.005) and had exclusive breastfeeding (4.7 vs. 2.7 months, p > 0.001). No significant confounding variables were identified., Conclusion: Extended SSC (>45 min) correlated with prolonged, higher-quality breastfeeding after birth and longer successful breastfeeding., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: Child mortality declined significantly in Finland in 1969-2004. We investigated whether the already low mortality rate could still decline from 2005 to 2020., Methods: This was a nationwide register-based study. The subjects were children under 16 years of age who had resided in Finland between 2005 and 2020. The study population was identified from Finland's Population Information System of the Digital and Population Data Services Agency. Causes of death were obtained from Statistics Finland. Changes in annual overall and cause-specific mortality rates were evaluated., Results: 3685 children (55% boys) under 16 years of age died in Finland in 2005-2020 from 325 causes. Overall annual child mortality declined by 50% (95% confidence interval 37 to 64%) during the study period, from 0.31/1000 in 2005 to 0.16/1000 in 2020. The mortality rate in children under one year of age declined from 3.1/1000 in 2005 to 1.8/1000 in 2020. The deaths from sudden infant death syndrome fell by 84%, congenital malformations by 62%, infectious diseases by 60%, external causes by 52%, and perinatal disorders by 41%., Conclusion: Finland's low child mortality further declined over the past two decades. Contributing factors likely include achievements in paediatric research, public health, and clinical practice., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Objective: We sought to characterize the prevalence of ankyloglossia in our neonatal intensive care unit (NICU) population and to determine characteristics of this cohort compared to infants in the birth center (BC)., Methods: Prospective data were collected using a standardized flow sheet. Breastfeeding infants undergoing evaluation for tongue-tie in the BC and NICU were included. Coryllos type, tip to frenulum length, tongue function, frequency of frenotomy, and breastfeeding outcomes were compared., Results: Of 20,879 infants birthed at or admitted to the institution during the study period, there were fewer patients diagnosed with ankyloglossia in the BC compared to the NICU (3.3% BC vs. 5.4% NICU, p < 0.01). Of these, 163 underwent frenotomy: 86 in the BC and 77 in the NICU. For those undergoing frenotomy, gestational age (39.1 ± 1.3 BC, 34.4 ± 4.4 NICU, p < 0.01) and age at time of procedure (3.2 days BC, 29.2 NICU, p < 0.01) were the only demographic factors significantly different between the groups. There was no difference in Coryllos type or function score. In a subset of NICU infants with multiple assessments over time, function scores after frenotomy were significantly improved compared to pre-frenotomy (p < 0.01)., Conclusion: Standard assessment tools appear to be appropriate for use in infants in the NICU, despite the higher rates of prematurity, low birth weights, and increased comorbidities. Assessment and intervention for tongue-tie can be one critical intervention to move these patients closer to oral feeding and discharge to home., Level of Evidence: 3 Laryngoscope, 134:5152-5159, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)

There is an increasing recognition of the importance of diagnosing genetic conditions with an ever-growing list of genetic testing options. However, most providers do not have formal genetics training, which makes choosing the most appropriate test to order challenging. Our project sought to improve cytogenetic testing utilization in a tertiary care neonatal intensive care unit (NICU) through utilizing quality improvement techniques, specifically the Model for Improvement framework with rapid Plan-Do-Study-Act cycles. Our project utilized various interventions including the implementation of a NICU genetic testing algorithm. Interventions demonstrated improvement in all areas, specifically a 92% reduction in unnecessary cytogenetic testing with improvement in the diagnostic rate. Our work also resulted in a 59% decrease in charges with an estimated projected savings of $21,000 per year. Quality improvement can minimize redundancies and inefficiencies in genetic testing in a Level IV NICU in a large tertiary care children's hospital and result in substantial cost-savings., (© 2024 Wiley Periodicals LLC.)

Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation characterized by lactic acidosis and central nervous system involvement. Knowledge of the affected metabolic pathways and clinical observations suggest that early initiation of the ketogenic diet may ameliorate the metabolic and neurologic course of the disease. We present a case in which first trimester ultrasound identified structural brain abnormalities prompting a prenatal molecular diagnosis of PDCD. Ketogenic diet, thiamine, and N-acetylcysteine were initiated in the perinatal period with good response, including sustained developmental progress. This case highlights the importance of a robust neurometabolic differential diagnosis for prenatally diagnosed structural anomalies and the use of prenatal molecular testing to facilitate rapid, genetically tailored intervention., (© 2024 Wiley Periodicals LLC.)

Glycosylphosphatidylinositols (GPIs) are a type of glycolipid responsible for anchoring many important proteins to the cell membrane surface. Defects in the synthesis of GPIs can lead to a group of multisystem disorders known as the inherited GPI deficiencies (IGDs). Homozygosity for the c.-270C > G variant in the promoter of PIGM has been associated with a IGD subtype known as glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1). The several cases reported in the literature have been described to have a milder neurologic phenotype in comparison to the other IGDs and have been treated with sodium phenylbutyrate with some degree of success. These patients typically present with portal and hepatic vein thrombosis and mostly develop absence seizures. Here we describe a patient homozygous for a nonsynonymous variant in PIGM who deceased at 9 weeks of life and had multiple physical dysmorphisms (rocker bottom feet, midline cleft palate, thickened and lichenified skin), portal vein thrombosis, CNS structural anomalies (progressive multicystic encephalomalacia and ventriculomegaly), and a neurological phenotype of a diffuse encephalopathy. This is the first known case report of a PIGM-related IGD/CDG due to a coding variant., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Background: Research has shown caseload midwifery to increase the chance of vaginal birth, but this may not be the case in settings with high vaginal birth rates in standard care. This study investigated the association between caseload midwifery and birth mode, labor interventions, and maternal and neonatal outcomes at a large obstetric unit in Denmark., Methods: Cohort study including medical records on live, singleton births fr om June 2018 until February 2022. Exposure was caseload midwifery care compared with standard midwifery care. The primary outcome was birth mode, and secondary outcomes were other outcomes of labor. Adjusted risk ratios (aRR) with 95% confidence intervals (CI) were estimated by log-binomial regression., Results: Among 16,110 pregnancies, 3162 pregnancies (19.6%) received caseload midwifery care. Caseload midwifery was associated with fewer planned cesareans (aRR 0.63 [95% CI 0.54-0.74]) and emergency cesareans (aRR 0.86 [95% CI 0.75-0.95]). No differences in labor induction, use of epidural analgesia, oxytocin augmentation, or anal sphincter tears were observed. Caseload midwifery performed more amniotomies (aRR 1.14 [95% CI 1.02-1.27]) and tended to perform more episiotomies (aRR 1.19 [95% CI 0.96-1.48]). Postpartum hemorrhage (aRR 0.90 [95% CI 0.82-0.99]) and low Apgar score were less likely (aRR 0.54 [95% CI 0.37-0.77]), and early discharge more likely (aRR 1.22 [95% CI 1.17-1.28]) in caseload midwifery., Conclusion: In caseload midwifery care, a higher vaginal birth rate was observed with no increase in adverse outcomes, mainly due to a lower likelihood of planned cesarean. Also, fewer children were born with low Apgar scores., (© 2024 The Author(s). Birth published by Wiley Periodicals LLC.)

Aim: To examine the relationship between preterm birth and hospitalisation for paediatric complex chronic conditions., Methods: We conducted a cohort study of 1 269 745 children born between 2006 and 2022 in Quebec, Canada. We classified preterm birth as extreme (<28 weeks), very (28-31 weeks), and moderate (32-36 weeks). The outcome was hospitalisation for complex chronic conditions, including neurologic, neuromuscular, cardiovascular, respiratory, renal, gastrointestinal, haematologic, immunologic, endocrine, and neoplastic disorders up to 16 years of age. We computed adjusted hazard ratios (HR) and 95% confidence intervals (CI) for the association between preterm birth and complex chronic conditions during 9 948 734 person-years of follow-up., Results: Hospitalisation rates for complex chronic conditions were higher for children born preterm than at term (6.88 vs. 2.24 per 1000 person-years). Preterm birth was associated with all complex chronic conditions, especially respiratory (HR 4.64, 95% CI 4.01-5.37), cardiovascular (HR 3.68, 95% CI 3.47-3.90), and neurologic disorders (HR 3.48, 95% CI 3.21-3.77). Associations were present at all ages and for all degrees of prematurity, but were strongest with extreme prematurity., Conclusion: Preterm birth increases the risk of hospitalisation for complex chronic conditions up to age 16 years. Preterm children may benefit from enhanced care throughout childhood and adolescence., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Background: Mothers and infants continue to die at alarming rates throughout the Global South. Evidence suggests that high-quality midwifery care significantly reduces preventable maternal and neonatal morbidity and mortality. This paper uses a case study approach to describe the social and institutional model at one birth center in Northern Uganda where, in over 20,000 births, there have been no maternal deaths and the neonatal mortality rate is 11/1000-a rate that is lower than many high-resource countries., Methods: This case study combined institutional ethnographic and narrative methods to explore key maternal and neonatal outcomes. The sample included birthing people who intended to or had given birth at the center, as well as the midwives, staff, stakeholders, and community health workers affiliated with the center. Data were collected through individual and small group interviews, participant observation, field notes, data and document reviews. Iterative and systematic analytical steps were followed, and all data were organized and managed with Atlas.ti software., Results: Findings describe the setting, an overview of the birth center's history, how it is situated within the community, its staffing, administration, clinical outcomes, and model of care. A synthesis of contextual variables and key outcomes as they relate to the components of the evidence-informed Quality Maternal and Newborn Care (QMNC) framework are presented. Three overarching themes were identified: (a) community knowledge and understanding, (b) community integrated care, and (c) quality care that is respectful, accessible, and available., Conclusions: This birth center is an example of care that embodies the findings and anticipated outcomes described in the QMNC framework. Replication of this model in other childbearing settings may help alleviate unnecessary perinatal morbidity and mortality., (© 2024 Wiley Periodicals LLC.)

Aim: To assess the effect of ventricular decompression on cerebral oxygenation in preterm neonates with intraventricular haemorrhage (IVH) and posthemorrhagic ventricular dilatation (PHVD) using near-infrared spectroscopy (NIRS)., Methods: Fifty-three preterm neonates born <34 weeks' gestation between 2013 and 2023 with IVH and subsequent PHVD were prospectively included. Regional cerebral oxygen saturation (rScO 2 ) as well as fractional cerebral tissue oxygen extraction (cFTOE) were analysed 2 weeks before and after ventricular decompression., Results: Ventricular decompression was performed at 18 ± 6 days of life. Patients with repeated lumbar punctures prior to ventricular drainage showed consistently higher rScO 2 and lower cFTOE levels 2 weeks before and after intervention compared to those without. Patients who underwent direct ventricular drainage showed an immediate increase in rScO 2 levels on the day of the procedure. In patients who underwent prior lumbar punctures, ventricular decompression did not yield additional acute effects on cerebral oxygenation., Conclusion: Patients who underwent repeated lumbar punctures preceding ventricular drainage consistently maintained higher rScO 2 and lower cFTOE levels during the study period. In these patients, ventricular decompression did not further affect cerebral oxygenation, as they already demonstrated improved cerebral hemodynamics, whereas an immediate improvement was observed in those without prior lumbar punctures., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Aim: The aim of this study is to prevent mask leak during ventilation in infant emergencies, appropriate facemask fitting is essential. Therefore, we investigated facial profiles during the first year of life and their correlation with the correct sizing of masks., Methods: This is a post hoc subgroup analysis of 32 healthy term infants, based on a prospective observational study performed from September 2018 to December 2019 in Tuebingen, Germany. In 3-monthly intervals, facial aspects were measured based on anatomical landmarks in three-dimensional frontal photographs to describe their changes across the first year of life. All infants were awake and breathing spontaneously; none required any anaesthesia., Results: In 130 3D images, mean distance between nasion and gnathion was 54 mm (3.3) measured at birth and 70 mm (3.5) at age 12 months. Gompertz models showed relevant growth-related changes in the facial profile in vertical but not horizontal direction. Vertical growth occurred mainly in the first 6 months. Boys and girls differed by an average of about 2 mm (boys >girls)., Conclusion: Based on our findings, it should now be verified whether the 50 mm facemasks are suitable for infants from birth to 2 months of age, respectively, the 60 mm version for infants aged three to 12 months., (© 2024 The Author(s). Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Background: Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy characterized by prominent trabeculations. Detailed characteristics of biventricular noncompaction (BiVNC) remain unknown. This study aimed to elucidate the clinical characteristics and genetic landscape of BiVNC., Methods and Results: We recruited children with left ventricular noncompaction from Japanese multi-institutional centers from 2013 to 2021. Left ventricular noncompaction was classified as BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function. In these patients, cardiomyopathy-associated genes were screened. A total of 234 patients (127 male; mean age, 4 months [range, 0-6.6 years]) were enrolled in this study, of whom 25 had BiVNC; 55, normal function; 84, dilated cardiomyopathy; 38, congenital heart disease; and 32, arrhythmia. BiVNC was diagnosed during the perinatal period in 10 patients, in whom the prevalence was higher than that in other patients. A total of 14 patients in the group with BiVNC had congenital heart disease, but not necessarily right heart lesions. Left ventricular dyskinesis was frequently observed in the lateral wall (24%) and apex (28%). Eleven pathogenic variants were found in 11 patients with BiVNC (44.0%). The group with BiVNC had a higher ratio of mitochondrial and developmental gene variants than the other groups. Among all groups, the group with BiVNC had the worst survival rate ( P =0.0009)., Conclusions: Pediatric patients with BiVNC had a high rate of ventricular dyskinesis and poor outcome. A comprehensive and careful screening for disease-causing genes and phenotype may help identify specific patients with left ventricular noncompaction and mortality-related cardiac phenotypes.

Background: Atherosclerosis develops across the life course, and variation in aortic intima-media thickness (IMT) is evident from infancy onward, although most early-life data are cross-sectional. We investigated whether abdominal aortic IMT at age 6 weeks is associated with vascular measures at 4 years and the relationship of prenatal and perinatal exposures with these measures in early childhood., Methods and Results: We analyzed data from 518 participants with 6-week and 4-year vascular measures from the Barwon Infant Study. Aortic IMT was measured at 6 weeks (mean, 6.1±SD 1.5 weeks) and aortic and carotid IMT, carotid-femoral pulse wave velocity, and blood pressure at 4 years of age (4.3±0.3 years). Associations of early-life exposures-maternal enteric microbiome, smoking and low-density lipoprotein cholesterol during pregnancy, birth weight, and gestational age-were also investigated. In the primary model, 6-week aortic IMT (649±66 μm) was associated with small differences in 4-year carotid IMT (453±45 μm) (mean difference in carotid IMT per 100 μm higher 6-week aortic IMT=7.0 μm [95% CI, 0.7-13.3]; P =0.03), with no evidence for associations with 4-year aortic IMT, pulse wave velocity, or blood pressure. Higher birth weight was associated with greater 4-year aortic IMT, and maternal smoking with higher systolic blood pressure., Conclusions: Vascular measures do not show strong evidence of tracking between infancy and early childhood. Longitudinal studies with repeated assessment beyond age 4 years would inform optimal timing of early prevention and targets for primordial prevention.

Background: Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric MYH7 -related DCM., Methods and Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.54 [interquartile range, 0.01-10.8] years) with pathogenic/likely pathogenic variants in MYH7 diagnosed with DCM at pediatric age (<18 years) followed at 13 international centers. We also explored risk factors associated with a composite end point of end-stage heart failure defined as heart transplantation or heart failure-related death. Twenty-two patients (50%) were diagnosed at age <6 months, including 7 (16%) at birth. Left ventricular (LV) hypertrabeculation features were present in 15 (38%), particularly among patients with genetic variants in the head domain. After a median follow-up of 6.1 years (interquartile range, 1.9-13.4), 15 patients (36%) required a heart transplant (n=14) or died due to end-stage heart failure (n=1), 15 patients (36%) persisted with systolic dysfunction despite treatment, 12 (29%) had a significant increase in LV ejection fraction, and 2 were lost to follow-up. Overall, end-stage heart failure event rate was 25% at 5 years. New York Heart Association class III to IV (hazard ratio [HR], 7.67 [95% CI, 2.16-27.2]; P =0.002) and LV ejection fraction ≤35% (HR, 4.00 [95% CI, 1.11-14.4]; P =0.03) were the best predictors of bad prognosis., Conclusions: Pediatric MYH7 -related DCM is characterized by early onset, frequent LV hypertrabeculation, and poor prognosis. Advanced New York Heart Association class and low LV ejection fraction emerged as predictors of end-stage heart failure.

Background: There is strong interest in the evaluation of longer-term outcome metrics for congenital heart diseases (CHDs); however, registries focus on postoperative metrics., Methods and Results: Informed by user online discussion forums and scoping of national data, we selected sentinel CHDs and long-term outcome metrics suitable for routine monitoring. We then developed sentinel CHD phenotypes and algorithms for identifying treatment pathway procedures using clinical codes. Finally, we calculated the metrics within a retrospective national cohort analysis. The 9 selected sentinel CHDs had a higher-than-average prevalence, typically involved surgery in infancy, and were associated with an increased risk of late mortality. The selected metrics of survival and reinterventions at 1, 5, and 10 years were both important and feasible. The cohort included 29 319 (41.3% of all operated CHD births) English and Welsh children born with sentinel CHDs in 2000 to 2022. Example metrics at age 10 years included: survival-hypoplastic left heart syndrome: 57.6% (95% CI, 54.9%-60.4%), functionally univentricular heart: 86.7% (95% CI, 84.6%-88.9%), transposition of the great arteries: 93.1% (95% CI, 92.2%-93.9%), pulmonary atresia: 81.0% (95% CI, 79.1%-82.9%), atrioventricular septal defect: 88.5% (95% CI, 87.5%-89.5%), tetralogy of Fallot: 95.1% (95% CI, 94.4%-95.8%), aortic stenosis: 94.4% (95% CI, 93.3%-95.6%), coarctation: 96.7% (95% CI, 96.2%-97.3%), and ventricular septal defect: 96.9% 95% CI, (96.4%-97.3%); and (2) cumulative incidence of reintervention-hypoplastic left heart syndrome : 54.5% (95% CI, 51.5%-57.3%), functionally univentricular heart: 57.3% (95% CI, 53.9%-60.5%), transposition of the great arteries: 20.9% (95% CI, 19.5%-22.3%), pulmonary atresia: 66.8% (95% CI, 64.2%-69.1%), atrioventricular septal defect: 21.6% (20.3%-23.0%), tetralogy of Fallot: 26.6% (95% CI, 25.2%-28.0%), aortic stenosis: 31.2% (95% CI, 28.8%-33.6%), coarctation: 19.8% (95% CI, 18.6%-21.1%), and ventricular septal defect: 6.1% (95% CI, 5.5%-6.8%)., Conclusions: It is feasible to report important long-term outcomes of survival and reintervention for sentinel CHDs using routinely collected procedure records, adding value to national audit.

Background: Hypertensive pregnancies are associated with an increased risk of cardiovascular and neurological diseases in the offspring during later life. However, less is known about the potential impact on multi-organ phenotypes in offspring before disease symptoms occur. The objective of this systematic review was to determine the associations of fetal exposure to maternal hypertensive pregnancy with multi-organ phenotypes across developmental stages., Methods and Results: Ovid MEDLINE, EMBASE, CENTRAL (Cochrane Central Register of Controlled Trials), WoS, Scopus, CINAHL, and ClinicalTrials.gov were systematically searched until February 2024. Records were independently screened by 2 authors. Studies reporting on the structure or function of the heart, blood vessels, brain, liver, and kidneys in offspring of hypertensive pregnancies compared with a normotensive control population were included. Risk of bias was assessed using the Newcastle-Ottawa Scale. Extracted data were presented using harvest plots. Seventy-three studies including 7091 offspring of hypertensive pregnancies and 42 164 controls were identified that met the inclusion criteria. Thirty-two studies were investigations in fetuses, 24 in neonates and infants, 12 in children, 2 in adolescents, and 3 in adults. Offspring of hypertensive pregnancies had structural and functional changes in the heart compared with controls in some studies across developmental stages. Offspring of hypertensive pregnancies also had smaller occipital and parietal vessels, higher aortic intima-media thickness, and lower retinal arteriolar-to-venular ratio. Some conflicting evidence existed for other phenotypical alterations., Conclusions: There is still inconsistent evidence of multi-organ structural and functional differences in offspring of hypertensive pregnancies. The evidence base could therefore be further strengthened through well-designed and conducted prospective studies., Registration Information: www.crd.york.ac.uk. Unique Identifier: CRD42023387550.

Aims: To investigate whether systemic inflammatory indices and the last trimester APRI score change in PGDM and to evaluate the relationship between these alterations and perinatal outcomes., Methods: A total of 240 pregnant women, 120 of whom were pregestational diabetic (40 with T1DM and 80 with T2DM), were analyzed. In each trimester, WBC, NEU, LNF, PLT, NLR, dNLR, PLR, PNR, and SII values, and in the last trimester MON, PMR, SIRI, AST values, and APRI score were recorded and compared between PGDM and control cohorts., Results: The first trimester WBC, NEU, and LNF values were higher and the PNR values were lower, the second trimester LNF value was higher and the NLR was lower, the third trimester APRI score was higher in the PGDM group. In diabetic pregnant women, the optimal cut-off value of NEU for predicting LBW in the first trimester was 6.965 × 10⁹/L (62.5% sensitivity and 61.6% specificity), while the optimal cut-off value of the last trimester APRI score for predicting preterm delivery was 0.072 (61.9% sensitivity and 61.6% specificity). In predicting NICU, the optimal cut-off value for second trimester NLR was found to be 3.973 (70% sensitivity and 70% specificity) in the T1DM group, while the optimal cut-off values for first and second trimester LNF were 2.395 × 10⁹/L (75% sensitivity and 71.1% specificity) and 2.23 × 10⁹/L (75% sensitivity and 68.4% specificity) in the T2DM group, respectively., Conclusions: In routine clinical practice, the first trimester NLR and last trimester APRI score may be used as additional tools for predicting perinatal outcomes in pregnancies affected by PGDM., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Immune thrombocytopenic purpura (ITP) affects 1-3 out of every 10 000 pregnancies, posing significant risks to both mothers and newborns. The condition often requires careful management to prevent severe hemorrhagic events. PubMed, Embase, Scopus, and Web of Science searched for relevant literature until June 2024. A meta-analysis was performed to evaluate the effect of ITP on maternal and fetal outcomes. The results showed that antepartum hemorrhage occurred in 0.17 (95% CI = 0.12-0.25) of patients and postpartum hemorrhage occurred in 0.11 (95% CI = 0.07-0.16) of pregnant women with ITP. About 0.63 (95% CI = 0.50-0.74) of pregnant women needed treatment for ITP. The cesarean section (CS) rate was 0.48 (95% CI = 0.34-0.61), and the occurrence of preterm labor was 0.14 (95% CI = 0.07-0.24). A total of 0.32 of neonates had thrombocytopenia (95% CI = 0.18-0.52). The difference between the platelet count of those diagnosed with ITP before pregnancy and those diagnosed after pregnancy was significant (MD = -31.50, 95% CI = 51.29-11.72, p < 0.01). This meta-analysis highlights the significant impact of ITP on pregnancy, estimating risks of bleeding, CS, gestational diabetes, preterm labor, and neonatal thrombocytopenia. These findings underscore the need for vigilant monitoring and tailored management of pregnant women with ITP., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Objective: In recent years antiphospholipid syndrome (APS) as well as antiphospholipid antibodies (aPL) prevalence has demonstrated an upward trend in women during reproductive age. There is a lack of data concerning its effects on women with grand multiparity (GMP) (parity ≥5). Hence, this study aimed to assess pregnancy outcomes among GMP aPL/APS patients., Study Design: We retrospectively assembled the births of GMP women with aPL/APS, between 2017 and 2022 in the Sheba Medical Center. We compared their deliveries with those of two control groups: (1) the "aPL/APS-controls"-of pregnant women with aPL/APS and parity <5. (2) The "GMP-controls"- parity ≥5 without aPL/APS. We examined demographics, aPL characteristics, pregnancy, and neonatal outcomes between the groups., Results: In total, 42 deliveries in the study group were compared to 461 deliveries in the "aPL/APS-controls" group and 84 deliveries of the "GMP-controls." Most parameters were similar across groups. However, the study group had a higher rate of obstetric APS diagnosis (64.64% vs. 83.33%, p < 0.01) and showed significant differences such as older maternal age, higher BMI, more polyhydramnios cases, and larger babies compared to controls (33.91 vs. 36.19, p = 0.05; 23.2 vs. 28.89, p = 0.02; 3.68 vs. 11.9, p = 0.01; and 2.17 vs. 14.28, p < 0.01, respectively)., Conclusions: Our findings reveal that perinatal outcomes in aPL/APS GMP women are comparable and not inferior to those in aPL/APS women with <5 pregnancies or in comparison to the general GMP population. The minor differences observed may all be related to GMP women's older age and higher BMI., (© 2024 The Author(s). American Journal of Reproductive Immunology published by John Wiley & Sons Ltd.)

Introduction: Severe bronchiolitis (i.e., bronchiolitis requiring hospitalization) is linked to childhood asthma development. Despite a growing understanding of risk factors for developing post-bronchiolitis asthma, protective factors remain unclear. In this study, we aimed to investigate whether exposure to residential greenness between birth and bronchiolitis hospitalization is associated with asthma and atopic asthma development by age 6 years., Methods: We analyzed a US severe bronchiolitis cohort from hospitalization to age 6 years, investigating how the normalized difference vegetation index (NDVI) and chlorophyll index green (CI green), measured in small (100 m) and large (500 m) radiuses around homes, relate to asthma and atopic asthma by age 6 years. We also explored whether maternal antibiotic use, daycare attendance, and respiratory virus type during hospitalization act as effect modifiers., Results: The study cohort included 861 infants, with 239 (28%) developing asthma by age 6 years-152 atopic, 17 nonatopic, and 70 unclassified. Early life residential exposure to high NDVI and CI green levels was associated with lower odds of asthma (OR Adj for NDVI within a 100 m radius, 0.18; 95% CI, 0.05-0.78; and OR Adj for CI green levels within a 100 m radius, 0.53; 95% CI, 0.31-0.90). Associations also were significant for the development of atopic asthma (OR Adj 0.16; 95% CI, 0.03-0.96; and OR Adj 0.46; 95% CI, 0.25-0.92; respectively). Results were similar for the 500 m radius exposures. No effect modification was noted., Conclusion: In a U.S. bronchiolitis cohort, exposure to residential greenness between birth and bronchiolitis hospitalization is linked to lower asthma and atopic asthma risk by age 6 years., (© 2024 European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Moderate-late preterm-born infants experience more frequent and severe respiratory tract infections and wheezing compared to term-born infants. Decreasing the risk on respiratory tract infections and wheezing in this group is vital to improve quality of life and reduce medical consumption during infancy, but also to reduce the risk on asthma and COPD later in life. Until now, moderate-late preterm infants are underrepresented in research and mechanisms underlying their morbidity are largely unknown, although they represent 80% of all preterm-born infants. In order to protect these infants effectively, it is essential to understand the role of the immune system in early life respiratory health and to identify strategies to optimize immune development and respiratory health. This review elaborates on risk factors and preventative measures concerning respiratory tract infections and wheezing in preterm-born infants, exploring their impact on the immune system and microbiome. Factors discussed are early life antibiotic use, birth mode, feeding type and living environment. Further, differences in adaptive and innate immune maturation between term and preterm infants are discussed, as well as differences in local immune reactions in the lungs. Finally, preventative strategies are being explored, including microbiota transplantation, immune modulation (through pre-, pro-, syn- and postbiotics, bacterial lysates, vaccinations, and monoclonal antibodies) and antibiotic prophylaxis., (© 2024 The Author(s). Allergy published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.)

Objectives: The sex ratio at birth (SRB), calculated as male divided by total live births, is an important indicator of population health. Typically, male live births slightly outnumber female live births. Population events, including pandemics, can alter the SRB, with effects sometimes evident 9 months post-event, potentially due to changes in sexual behavior and/or stress levels. This study investigates the impact of the COVID-19 pandemic on the SRB in the Republic of Ireland., Methods: Publicly available monthly live birth data for Ireland were obtained from the Central Statistics Office for the period 2015 to 2021. Time series analysis predicted the SRB for 2020 using data from 2015 to 2019, with comparisons made between observed and predicted values., Results: In December 2020, 9 months after the March 2020 COVID-19 declaration, the observed SRB sharply fell to 49.44% (97.80 males for every 100 females), below the 95% prediction interval of 50.31% to 52.15%, significantly deviating from the expected male predominance. December 2020 also recorded the lowest average daily number of births (n = 145) in the study period., Conclusion: The sharp decline in the SRB in December 2020, alongside the lowest birth count, suggests reduced sexual intercourse at the population level, particularly in March 2020, aligning with recommendations from Ireland's Health Service Executive (HSE). The HSE advocated precautionary measures such as limiting partnered sex in March 2020 to mitigate the spread of COVID-19. These findings highlight the pandemic's potential impact on population dynamics and stress the importance of SRB monitoring as a low-cost and readily available health indicator, especially during national crises., (© 2024 The Author(s). American Journal of Human Biology published by Wiley Periodicals LLC.)

G6PD deficiency results from mutations in the X-linked G6PD gene. More than 200 variants are associated with enzyme deficiency: each one of them may either cause predisposition to haemolytic anaemia triggered by exogenous agents (class B variants), or may cause a chronic haemolytic disorder (class A variants). Genotype-phenotype correlations are subtle. We report a rare G6PD variant, discovered in a baby presenting with severe jaundice and haemolytic anaemia since birth: the mutation of this class A variant was found to be p.(Arg454Pro). Two variants affecting the same codon were already known: G6PD Union, p.(Arg454Cys), and G6PD Andalus, p.(Arg454His). Both these class B variants and our class A variant exhibit severe G6PD deficiency. By molecular dynamics simulations, we performed a comparative analysis of the three mutants and of the wild-type G6PD. We found that the tetrameric structure of the enzyme is not perturbed in any of the variants; instead, loss of the positively charged Arg residue causes marked variant-specific rearrangement of hydrogen bonds, and it influences interactions with the substrates G6P and NADP. These findings explain severe deficiency of enzyme activity and may account for p.(Arg454Pro) expressing a more severe clinical phenotype., (© 2024 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)

Newborn screening for Phenylketonuria (PKU) began in 1963, and since then knowledge and treatment recommendations have evolved. In the decades following newborn screening for PKU, individual and family experiences varied widely. We present narratives by people living with PKU during these years, including individuals actively following in PKU clinic and those who have been out of PKU clinic for many years. These stories describe different individual experiences, including diet discontinuation in childhood, changing treatment guidelines, and new treatments that have become available., (© 2024 The Author(s). American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)

Objectives: The regional population mortality patterns in China exhibit substantial geographical distribution characteristics. This paper aims to explore the impact and mechanisms of geographical environmental factors on regional population mortality patterns., Methods: This study first utilized the data from China's Seventh Population Census to obtain mortality patterns for the 31 provincial-level administrative regions. Subsequently, a functional regression method was employed to explore the geographical environmental driving factors of regional mortality patterns., Results: The study provides a detailed explanation of the mechanisms and marginal contributions of key geographical environmental factors at different age groups., Conclusions: (1) The impact of geographical environmental factors on mortality patterns shows distinct phased characteristics. Mortality patterns before the age of 40 years are hardly influenced by geographical environmental factors, with a noticeable impact beginning at ages 40-69 years and reaching the maximum influence after the age of 70 years. (2) In mortality patterns at ages 40-69 years, average altitude have the most substantial impact, followed by extreme low-temperature days and PM2.5 concentration. In mortality patterns at ages 70-94 years, high-temperature days have the greatest influence, followed by the impact of SO 2 concentration. (3) In comparisons based on gender, socioeconomic factors, and geographical environmental factors, gender and urban-rural differences have the most significant impact on regional population mortality patterns, followed by the influence of other socioeconomic factors, with geographical environmental factors having a relatively smaller impact., (© 2024 Wiley Periodicals LLC.)

The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years., (© 2024 The Author(s). American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)

Paediatric leukaemia has a long tail of driver mutations each of which must be 'backtracked' to samples taken at birth to identify the prenatal origin of a subtype. Presently, Bardini et al. describe the first successful backtracking of an NUTM1 rearrangement, which sheds light on the biology of this particular alteration. Continued backtracking of NUTM1 rearrangements, and all leukaemia-typical somatic alterations, is necessary to fully understand the prenatal origin of these diseases. Commentary on: Bardini et al. Prenatal origin of NUTM1 gene rearrangement in infant B-cell precursor acute lymphoblastic leukaemia. Br J Haematol 2024; 205:1883-1888., (© 2024 British Society for Haematology and John Wiley & Sons Ltd.)