Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure. Nusinersen, an antisense oligonucleotide acting on the SMN2 gene, is intrathecally administered all life long, while onasemnogene abeparvovec-xioi, a gene therapy, is administered intravenously only once. Both therapies have proven efficacy, with best outcomes obtained when administered presymptomatically. In recent years, disease-modifying therapies such as nusinersen and onasemnogene abeparvovec-xioi have changed the natural history of SMA. Methods: We observed seven SMA type I patients, who received both therapies. We compared their motor function trajectories, ventilation hours and cough assist sessions to a control group of patients who received one therapy, in order to investigate whether combination therapy may be more effective than a single intervention alone. Results: Patients who received both therapies, compared to the monotherapy cohort, had the same motor function trajectory. Moreover, it was observed that the evolution of motor function was better in the 6 months following the first therapy than in the first 6 months after adding the second treatment. Conclusions: Our results suggest that early treatment is more important than combined therapy.

Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies’ guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies.

True umbilical knot (TUK), although not a commonly encountered pathology, hasan important psychological burden on the mother and obstetrician. It has an extremely low prenatal ultrasound diagnosis rate, despite its adverse perinatal outcomes when unknown. We conducted a retrospective observational analytical study on a 7-year period (2015–2021), including all pregnancies overseen by a single fetal-maternal medicine specialist for monitoring and delivery. We analyzed the prenatal detection rate and correlations between prenatal diagnosis of TUK and pregnancy outcome in terms of associated maternal and fetal factors, time and mode of delivery, fetal weight at birth, maternal level of stress, and iatrogenic prematurity. We compared our results with an electronic search of the literature to study the relationship between TUK and prematurity. We prenatally diagnosed 16 TUKs, and there were two false positives and two undiagnosed knots. All of those women had birth at term. The main finding of the review was a small number of studies that included enough cases for analysis. The prematurity rate due to TUK is 14.2%, significantly increased compared to the general population. An umbilical artery flow velocimetry notch in twin pregnancies complicated by TUK was an important ultrasonographic finding. We consider intrauterine fetal death exceptional, and the main adverse neonatal outcome is due to iatrogenic prematurity caused by maternal anxiety of knowing the prenatal diagnosis and mode of delivery. The elective method for diagnosis should be the second-trimester ultrasound scan using three-dimensional (3D) reconstruction and cesarean delivery for a good neonatal outcome. Pregnant women should be counseled to understand the implications of iatrogenic prematurity, especially respiratory distress syndrome, to ensure these infants are delivered at term.

Introduction: Neonatal sepsis is a severe and life-threatening condition caused by pathogens in the systemic circulation within the first 28 days of life. The classical definition of neonatal sepsis implies positive central cultures, but recent findings discuss culture-negative sepsis (clinical sepsis associated with laboratory findings). Since infected neonates initially express few non-specific clinical signs and there are unreliable biochemical markers to identify sepsis in the early stages, it is essential to improve the accuracy of diagnosis and reduce unnecessary antibiotic exposure. Objective: Our study aims to assess the influence of risk factors and the utility of currently used biomarkers in culture-negative neonatal early-onset sepsis (CN-EOS). Materials and methods: We performed a retrospective study at Bucharest University Hospital, which included 131 preterm and term newborns at risk for EOS admitted in the Neonatal Intensive Care Unit (NICU) over 12 months. The neonates included were classified into two groups: confirmed negative-culture early-onset sepsis (CN-EOS) and suspected early-onset sepsis (S-EOS). Patients from both groups received antibiotic therapy from the first day of life; the type and duration of antibiotic therapy were different in the two groups. For all the patients, we measured C-reactive protein (CRP), procalcitonin (PCT) and white blood count (WBC) at birth and after 72 h, tested blood culture in the first 24 h of life and correlated the results with clinical signs and prenatal risk factors. Categorical variables were presented as frequencies and percentages, while the continuous variables were the mean and the standard deviation. The differences between the continuous variable groups were determined by Student’s t-test or the Mann–Whitney U test, whereas for the categorical variables, the Chi-square test (X²) was employed. The performance of laboratory biomarkers (CRP and PCT) in diagnosing confirmed EOS was calculated. All the tests were statistically significant at a p-value < 0.05. Results: The findings support the significance of low birth weight and gestational age and low Apgar scores as potential indicators for EOS; PROM diagnosed with chorioamnionitis and smoking during the pregnancy were also important predictive risk factors. Respiratory signs, such as apnea and respiratory distress syndrome, were most encountered in the clinical evaluation of infants with CN-EOS. Inflammatory markers were inconsistent in CN-EOS cases, proving that they are not reliable enough for initiating, continuing or stopping antibiotic therapy. Conclusions: Culture-negative neonatal sepsis remains a significant challenge for the neonatologist, since the time elapsed between the moment sepsis is suspected and the initiation of empirical therapy can make the difference between survival and death. Continued efforts are needed to develop more reliable and effective diagnostic tools for timely and appropriate intervention.

Background and aim: The early identification of the former premature neonates at risk of neurologic sequelae could lead to early intervention and a better prognosis. This pilot study aimed to investigate whether the General Movement patterns observed at term-equivalent age in former premature infants could serve as predictors for guiding early intervention and improving prognosis. Materials and methods: In a population of 44 premature neonates (mean gestational age 33.59 weeks (+2.43 weeks)) examined at term-equivalent age, 10 neonates with a cramped–synchronized General Movements motor pattern were identified. These neonates were included in an early intervention program consisting of physiotherapy executed both by the therapist and by the parents at home. They were again examined at a corrected age of 12 weeks. The presence or absence of fidgety movements and the MOS-R (motor optimality score revised) was noted. The examinations were performed by certified specialists. Results: Normal fidgety movements and a MOS-R of 20–24 were presented in 9/10 of the former premature infants, with normal foot to foot contact present in 7/10, and normal hand to hand contact present in 5/10. The atypical patterns noted were side to side movements of the head in 5/10, a non-centered head in 9/10, asymmetric tonic neck reflex in 9/10 and jerky movements in 10/10. One patient presented with no fidgety movements and a MOS-R score of 9. Conclusion: Early intervention in our group of patients allowed for an improvement in the neurologic status, demonstrated by the presence of fidgety movements. We suggest that early intervention should be indicated in all premature infants that present with a cramped–synchronized GM pattern during examination at term-equivalent age. However, due to the small sample size, the absence of statistical analysis and a control group, and the limited follow-up period, the conclusions must be approached with caution.

Background/Objectives: Our research aimed to assess if correlations could be found between items evaluated at the cerebral ultrasound performed at term-equivalent age (TEA) and neuro-motor outcomes evaluated at 12 and 24 months of corrected age in a group of preterm infants. Methods: The following were assessed: the Levine Index, the diagonals of the lateral ventricles, the size of the ventricular midbody, the sinocortical distance, the width of the basal ganglia, the cortical depth at the level of the cingular sulcus and the maturation of the gyral folding. The neurologic evaluation was performed at 12 and 24 months of corrected age, according to the Amiel Tison neurologic examination, and the items from the calendar of motor acquisitions were used as outcome measures of the study—gross and fine motor subsets. The comparisons between the different groups were performed using the FANOVA test, with a statistically significant association for a p < 0.05. Results: The abnormal gross motor acquisitions at 12 months were significantly associated with an increased size of the ventricular midbody (p < 0.009) and a significantly decreased diameter of the basal ganglia (p < 0.011) on the TEA cerebral ultrasound. At 24 months, a significant association was found with increased size of the ventricular midbody (>10.33 mm) (p < 0.001), a decreased diameter of the basal ganglia (<12.9 mm) (p < 0.016), a decreased cortical depth (p < 0.021) and an immature gyral maturation pattern (p < 0.001). In the case of severely abnormal fine motor outcomes, at 12 months, there were statistically significant associations with an increased size of the ventricular midbody (p < 0.001) and an immature gyral folding pattern (p < 0.0180); at 24 months, significant associations were noted with the size of ventricular midbody (p < 0.001), a decreased diameter of the basal ganglia (p < 0.016), a decreased cortical depth (p < 0.021) and an immature gyration folding (p < 0.001). Conclusions: The abnormal gross and fine motor outcome in former premature infants at 12–24 months corrected age is significantly associated with abnormal findings in the head ultrasound examination performed at TEA reflecting both white matter (increased midbody distance) and grey matter (decreased diameter of the basal ganglia, decreased cortical depth and an immature gyration pattern) involvement.