Appearance of sleep cycling has been associated with good outcome in term and preterm infants, but the normal time of its appearance has not been determined. The objectives of this study were, to ...correlate the time of sleep cycling appearance and the length of quiet sleep in neonates with different degrees of mild perinatal stress.
Three groups of term infants recorded with aEEG after birth were studied: infants delivered by planned cesarean section (group 1), infants with mild perinatal stress (group 2) and infants with mild neonatal encephalopathy (group 3). Groups were correlated with the appearance and length of quiet sleep.
In all, 132 infants were assessed. Quiet sleep appearance differed significantly between groups (p < 0.001). All infants in group 1 developed quiet sleep before the age of 6 h compared to 81% in group 2 and 52% in group 3 (p < 0.001). No differences in the quiet sleep length was found between groups. Belonging to group 3 (p < 0.001) and 1-min Apgar score (p = 0.002) significantly predicted a delay in appearance of the first quiet sleep period. Cesarean delivery significantly predicted an earlier appearance of quiet sleep (p < 0.001).
Appearance of quiet sleep after birth but not its length may be delayed in case of mild perinatal stress.
Abstract This case report describes a twin fetus diagnosed in the third trimester with an enlarging abdominal mass that was confirmed on fetal magnetic resonance imaging (MRI) to be a hepatic ...mesenchymal hamartoma (HMH) without involvement of the placenta. Serial ultrasonography demonstrated progressive enlargement of the mass and infant was delivered at 33 + 6 weeks gestational age following maternal complications. On the fifth day, at laparotomy, a huge mass connected to the lower portion of the liver was completely resected. Microscopic evaluation confirmed a hepatic mesenchymal hamartoma. Postoperative recovery was uneventful and the infant was discharged at 4 weeks. The antenatal diagnosis of the hepatic mesenchymal hamartoma by fetal MRI and subsequent follow-up by serial ultrasonography emphasizes the importance of combining these 2 modalities for optimal management of the pregnancy to allow a favorable outcome.
Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report ...our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023. We included children under 3 months of age who had a genetic confirmation of PCD, as evidenced by the presence of two pathogenic variants in recognized genes. Genetic testing targeted regional genetic variants in previously identified PCD genes. Eight patients were included. The median age at diagnosis was 12.5 days. Three (38%) were born prematurely < 34 weeks gestational age. All patients were presented with respiratory distress and hypoxemia after birth. The median duration of oxygen support was 23 days, and upper lobe atelectasis was present in five patients (63%). Congenital cardiac malformation was present in four patients. Organ laterality defects were present in four patients. Genetic mutations identified were in the DNAAF5, DNAL1, DNAAF3, and DNAH1 genes.
Conclusion
: Neonatal diagnosis of PCD is uncommon, especially in atypical presentations such as children without laterality defects or preterms. Focusing on a genetic diagnosis of the local tribal pathogenic variants promotes a potential cost-efficient test leading to earlier diagnosis. There is a need for a standardized protocol for earlier diagnosis of PCD in high-consanguinity areas.
What is Known:
• Primary ciliary dyskinesia (PCD) typically presents after birth in term neonates.
• Diagnosing PCD during neonatal and infancy stages is challenging, particularly in children without laterality defects.
What is New:
• A novel genetic-based diagnostic approach was implemented on the neonatal population in a highly consanguine community, focusing on direct testing for regional genetic variants, leading to early and rapid diagnosis of PCD.
To compare seizure burden between newborn infants treated with therapeutic hypothermia (TH) and those that were not and to compare the need for antiseizure medications (ASM) in a cohort of infants ...who were diagnosed with neonatal hypoxic-ischemic encephalopathy (HIE).
This was a retrospective cohort study on infants born after 35 weeks' gestation, diagnosed with moderate to severe HIE, monitored with amplitude-integrated electroencephalography (aEEG) and eligible for TH. Infants born before the implementation of TH in 2008 were compared with infants born thereafter who received TH. Seizure burden was assessed from aEEG as total time in minutes of seizures activity per hour of recording. Other clinical and demographic data were retrieved from a prospective local database of infants with HIE.
Overall, 149 of 207 infants were included in the study: 112 exposed to TH and 37 not exposed. Cooled infants had a lower seizure burden overall (0.4 vs 2.3 min/h, P < 0.001) and were also less likely to be treated with ASM (74% vs 100%, P < 0.001). In multivariable regression models, not exposed to TH, having a depressed aEEG background, and having higher Apgar scores were associated with higher seizure burden (incidence rate ratio: 4.78 for noncooled infants, P < 0.001); also, not exposed to TH was associated with a higher likelihood of multidrug ASM (odds ratio: 4.83, P < 0.001).
TH in infants with moderate to severe HIE is associated with significant reduction of seizure burden and ASM therapy.
National implementation of rapid trio genome sequencing (rtGS) in a clinical acute setting is essential to ensure advanced and equitable care for ill neonates.
To evaluate the feasibility, diagnostic ...efficacy, and clinical utility of rtGS in neonatal intensive care units (NICUs) throughout Israel.
This prospective, public health care-based, multicenter cohort study was conducted from October 2021 to December 2022 with the Community Genetics Department of the Israeli Ministry of Health and all Israeli medical genetics institutes (n = 18) and NICUs (n = 25). Critically ill neonates suspected of having a genetic etiology were offered rtGS. All sequencing, analysis, and interpretation of data were performed in a central genomics center at Tel-Aviv Sourasky Medical Center. Rapid results were expected within 10 days. A secondary analysis report, issued within 60 days, focused mainly on cases with negative rapid results and actionable secondary findings. Pathogenic, likely pathogenic, and highly suspected variants of unknown significance (VUS) were reported.
Diagnostic rate, including highly suspected disease-causing VUS, and turnaround time for rapid results. Clinical utility was assessed via questionnaires circulated to treating neonatologists.
A total of 130 neonates across Israel (70 54% male; 60 46% female) met inclusion criteria and were recruited. Mean (SD) age at enrollment was 12 (13) days. Mean (SD) turnaround time for rapid report was 7 (3) days. Diagnostic efficacy was 50% (65 of 130) for disease-causing variants, 11% (14 of 130) for VUS suspected to be causative, and 1 novel gene candidate (1%). Disease-causing variants included 12 chromosomal and 52 monogenic disorders as well as 1 neonate with uniparental disomy. Overall, the response rate for clinical utility questionnaires was 82% (107 of 130). Among respondents, genomic testing led to a change in medical management for 24 neonates (22%). Results led to immediate precision medicine for 6 of 65 diagnosed infants (9%), an additional 2 (3%) received palliative care, and 2 (3%) were transferred to nursing homes.
In this national cohort study, rtGS in critically ill neonates was feasible and diagnostically beneficial in a public health care setting. This study is a prerequisite for implementation of rtGS for ill neonates into routine care and may aid in design of similar studies in other public health care systems.
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