Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.

Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mutations in the mannosyl-oligosaccharide glucosidase (glucosidase I) gene. MOGS-CDG is a rare disorder affecting the processing of N-Glycans (CDG type II) and is characterized by prominent neurological involvement including hypotonia, developmental delay, seizures and movement disorders. To the best of our knowledge, 30 patients with MOGS-CDG have been published so far. We described a child who is compound heterozygous for two novel variants in the MOGS gene. He presented Early Infantile Developmental and Epileptic Encephalopathy (EI-DEE) in the absence of other specific systemic involvement and unrevealing first-line biochemical findings. In addition to the previously described features, the patient presented a Hirschprung disease, never reported before in individuals with MOGS-CDG.

First Trimester Contingent Screening for Aneuploidies with Cell-Free Fetal DNA in Singleton Pregnancies - a Swiss Single Centre Experience.

Introduction: Switzerland was amongst the first countries to offer cell-free fetal DNA (cffDNA) testing covered by the health insurance to pregnant women with a risk ≥ 1:1000 for trisomies at first trimester combined screening (FTCS). The aim of this study is to evaluate the implementation of this contingent model in a single tertiary referral centre and its effect on gestational age at diagnosing trisomy 21. Materials and Methods: Between July 2015 and December 2020 all singleton pregnancies at 11-14 weeks of gestation without major fetal malformation were included and stratified according to their risk at FTCS. Statistical analysis was performed by GraphPad Version 9.1 for Windows. Results: 4424 pregnancies were included. Of 166 (3.8%) pregnancies with a NT ≥ 3.5 mm and/or a risk ≥ 1:10 at FCTS, 130 (78.3%) opted for direct invasive testing. 803 (18.2%) pregnancies had an intermediate risk, 692 (86.2%) of them opted for cffDNA first. 3455 (78.1%) pregnancies had a risk < 1:1000. 63 fetuses were diagnosed with trisomy 21, 47 (74.6%) directly by invasive procedures after FTCS, 16 (25.4%) by cffDNA first. Conclusions: Most women choose cffDNA or invasive testing as second tier according to national guidelines. Despite the delay associated with cffDNA testing after FCTS, 75% of all trisomy 21 are still diagnosed in the first trimester with this contingent screening model.

SARS-CoV-2 perinatal transmission and neonatal outcomes across four different waves of COVID-19 pandemic: A nationwide prospective cohort study from the Italian Society of Neonatology.

OBJECTIVES: To describe how SARS-CoV-2 infection at the time of delivery affected maternal and neonatal outcomes across four major waves of the COVID-19 pandemic in Italy. METHODS: This is a large, prospective, nationwide cohort study collecting maternal and neonatal data in case of maternal peripartum SARS-CoV-2 infection between February 2020 and March 2022. Data were stratified across the four observed pandemic waves. RESULTS: Among 5201 COVID-19-positive mothers, the risk of being symptomatic at delivery was significantly higher in the first and third waves (20.8-20.8%) than in the second and fourth (13.2-12.2%). Among their 5284 neonates, the risk of prematurity (gestational age <37 weeks) was significantly higher in the first and third waves (15.6-12.5%). The risk of intrauterine transmission was always very low, while the risk of postnatal transmission during rooming-in was higher and peaked at 4.5% during the fourth wave. A total of 80% of positive neonates were asymptomatic. CONCLUSION: The risk of adverse maternal and neonatal outcomes was significantly higher during the first and third waves, dominated by unsequenced variants and the Delta variant, respectively. Postnatal transmission accounted for most neonatal infections and was more frequent during the Omicron period. However, the paucity of symptoms in infected neonates should lead us not to separate the dyad.

Early Postnatal Infection of Neonates Born to Mothers Infected by SARS-CoV-2 Omicron Variant.

OBJECTIVES: To evaluate the rate of postnatal infection during the first month of life in neonates born to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive mothers during the predominant circulation of the omicron (B.1.1.529) variant. METHODS: This prospective, 10-center study enrolled mothers infected by SARS-CoV-2 at delivery and their infants, if both were eligible for rooming-in, between December 2021 and March 2022. Neonates were screened for SARS-CoV-2 RNA at 1 day of life (DOL), 2 to 3 DOL, before discharge, and twice after hospital discharge. Mother-infant dyads were managed under a standardized protocol to minimize the risk of viral transmission. Sequencing data in the study area were obtained from the Italian Coronavirus Disease 2019 Genomic platform. Neonates were included in the final analysis if they were born when the omicron variant represented >90% of isolates. RESULTS: Eighty-two percent (302/366) of mothers had an asymptomatic SARS-CoV-2 infection. Among 368 neonates, 1 was considered infected in utero (0.3%), whereas the postnatal infection rate during virtually exclusive circulation of the omicron variant was 12.1%. Among neonates infected after birth, 48.6% became positive during the follow-up period. Most positive cases at follow-up were detected concurrently with the peak of coronavirus disease 2019 cases in Italy. Ninety-seven percent of the infected neonates were asymptomatic. CONCLUSIONS: The risk of early postnatal infection by the SARS-CoV-2 omicron variant is higher than that reported for previously circulating variants. However, protected rooming-in practice should still be encouraged given the paucity of symptoms in infected neonates.

Electrical cardiometry in monitoring percutaneous closure of ductus arteriosus in preterm infants: a case study on five patients.

Patent ductus arteriosus closure by catheter-based interventions has become the preferred therapeutic choice. However, hemodynamic perturbances associated to this procedure have not yet been investigated. This study sought to examine the on-site hemodynamic impact caused by the procedure in preterm neonates. In this study, hemodynamic monitoring was obtained in a non-invasive way using electrical cardiometry in five preterm infants who underwent percutaneous patent ductus arteriosus closing at ASST Grande Ospedale Metropolitano Niguarda of Milan. All five infants underwent successful transcatheter closures. All patients experienced immediate hemodynamic changes upon ductal closing. Significative modifications occurred mainly in heart contractility, cardiac output, and stroke volume. In three cases, there was also a significative increase of systemic vascular resistance which persisted for 4 h after closing. While in two cases they spontaneously reduced with an amelioration of cardiac output and contractility, in the other case they were persistently high, associated with an hypertensive crisis and a progressive reduction of cardiac functions. For these reasons, milrinone was started and hemodynamic parameters returned normal in about 3 h, so therapy was discontinued.   Conclusions: Our single-center, prospective, consecutive, case series demonstrated hemodynamic aberrations due to sudden closure of a patent ductus arteriosus. Moreover, post procedural hemodynamic monitoring is important to precociously detect possible cardiac impairment and start an adequate therapy. What is Known: • It has previously suggested a temporarily impairment in cardiac output following patent ductus arteriosus closing. • Little is known about the other hemodynamic parameters during the procedure and how they change in the next hours according to the new hemodynamic status. What is New: • The persistence of increased systemic vascular resistance after percutaneous closure of ductus arteriosus could suggest the occurrence of hemodynamic complications. • Electrical cardiometry was useful to early detect postoperative hemodynamic changes.

Overview of Important Micronutrients Supplementation in Preterm Infants after Discharge: A Call for Consensus.

Preterm infants have a lower level of nutrient body stores and immature body systems, resulting in a higher risk of malnutrition. Imbalanced complementary feeding could lead to further risk of nutritional deficits and excesses. However, evidence on their nutritional requirements following hospital discharge is limited. When planning complementary feeding, appropriate micronutrient intake should be considered for their critical role in supporting various body functions. This narrative review summarizes the need for iron, zinc, vitamin D, calcium, phosphate and long-chain polyunsaturated fatty acids (LCPUFAs) supplementation in preterm infants during complementary feeding. Regarding iron and vitamin D, the scientific community is reaching an agreement on supplementation in some categories of prematures. On the contrary, there is still not enough evidence to detail possible recommendations for LCPUFAs, zinc, calcium and phosphorus supplementation. However, these micronutrients are paramount for preterms' health: LCPUFAs can promote retinal and brain development while calcium and phosphorus supplementation is essential to prevent preterms' metabolic bone disease (MBD). Waiting for a consensus on these micronutrients, it is clear how the knowledge of the heterogeneity of the prematures population can help adjust the nutritional planning regarding the growth rate, comorbidities and comprehensive clinical history of the preterm infant.

SpO2 and retinopathy of prematurity: state of the art.

AIM: To evaluate the relationship between arterial saturation values determined by pulse oximetry in the first weeks of life on the incidence of retinopathy of prematurity (ROP). METHODS: Randomized and observational studies were sought that compare the incidence of ROP in babies with high or low oxygen saturation targeting assisted by pulse oximetry. RESULTS: Over the last 15 years, evidence from experimental models of ROP and clinical studies, albeit not randomized trials, has shown a reduction in the incidence of ROP and other neonatal morbidities when very preterm newborns were targeted to a lower level of arterial oxygen saturation during their hospitalization, particularly in the first few weeks after birth. More recent evidence from randomized controlled trials confirms that targeting to a lower vs higher level of oxygenation from birth to 36 weeks postmenstrual age (PMA) or to hospital discharge reduces the incidence of ROP requiring treatment by 50% but is correlated with higher mortality rates. CONCLUSION: Future randomized, controlled trials should be designed including a cohort of infants in which a more dynamic approach to saturation targeting is adopted, i.e. lower saturation levels in the first few weeks of life and higher saturation levels after the 32 weeks of PMA.

Immunogenicity, safety and tolerability of heptavalent pneumococcal conjugate vaccine administered at 3, 5 and 11 months post-natally to pre- and full-term infants.

We assessed the immunogenicity, safety and tolerability of heptavalent pneumococcal conjugate vaccine (PCV7) administered three, five and 11 months post-natally to 46 pre-term (PT) and 46 full-term (FT) infants. After each dose, there was no significant difference between the groups in antibody levels for any of the vaccine serotypes. After the second dose, the majority of subjects in both groups showed titres of > or =0.35 microg/mL, whereas an antibody concentration of > or =1.0 microg/mL was usually reached in both PT and FT infants after the third dose. Safety and tolerability was also similar in the groups. These findings support the use of the simplified schedule that includes three doses of PCV7 in both PT and FT infants, and suggest that this may reduce costs, as well as problems related to vaccine supply and administration.