Archives of Disease in Childhood - Fetal and Neonatal Edition最新文献

Objective: To assess the economic consequences of initiating full milk feeds from birth compared with intravenous fluids with gradual feeding in infants born preterm.

Design: Within-trial economic evaluation alongside a prospective, multicentre, randomised controlled trial (Fluids Exclusively Enteral from Day 1). A cost-consequence approach was used (revised from the planned cost-effectiveness analysis to avoid double counting length of stay within costs).

Setting: 46 UK National Health Service (NHS) neonatal units.

Patients: Preterm infants born at 30+0to 32+6 weeks' gestation.

Interventions: Infants were allocated to either full milk feeds or gradual feeding with intravenous support within 3 hours of birth.

Main outcome measure: Resource use and costs were captured from birth to 6 weeks' corrected age. Costs were assessed from an NHS and personal social services perspective. The primary clinical outcome was length of hospital stay.

Results: 2088 infants were enrolled. There was no statistically significant difference in mean (95% CI) length of hospital stay between groups (-0.050 days (-0.638 to 0.538)). Mean total costs were £670 lower in the full milk group (95% CI: -£1562 to £223; p=0.141). Subgroup analyses suggested lower costs among infants born at 30 weeks' gestation and those below the 10th birth weight centile; no evidence of interaction was found.

Conclusions: Initiating full milk feeds from birth was associated with a modest reduction in costs compared with gradual feeding. While overall hospital stays and costs were not significantly reduced, early full feeding may offer economic advantages in selected subgroups. Further research is needed to assess long-term outcomes.

Trial registration number: ISRCTN89654042.

Objective: Currently, retinopathy of prematurity (ROP) screening requires a full retinal examination. To reduce the screening burden, we assessed whether a single optic nerve-centred image could detect treatment-requiring ROP. The objective is to investigate the use of a single image centred around the optic disc to detect treatment-requiring ROP, to reduce the burden of ROP screening with the same security of a full retinal examination.

Design: Retrospective case series.

Setting: Tertiary referral centre.

Population: Premature infants screened for ROP in a tertiary referral centre.

Main outcome: Vascular dilation and tortuosity on a scale from 1 to 5 were blindly labelled by three independent ROP experts using a 8 by 8 mm optic nerve-centred images. Images were automatically generated from images of the routine screening examinations.

Results: A total of 278 patients (556 eyes) with a mean gestational age of 28.4±2.0 weeks and a mean birth weight of 1059.7±324.0 g were included. Treatment was needed in 49 eyes (8.8%) of 25 patients. A total of 1510 image sets centred on the optic disc were obtained and analysed. When the cut-off of the vascular dilatation and tortuosity rating was fixed at 3 (equivalent to a severe preplus disease), sensitivity and specificity for the detection of prethreshold type 1 ROP were 100% and 88.9%, respectively.

Conclusions: ROP screening using a single posterior pole image could reduce stress in premature infants without degrading the quality of screening, compare to iterative dilated complete fundus examination.

Objective: To assess the contribution of rare coding genetic variants to idiopathic neonatal arterial ischaemic stroke (NAIS).

Design: Observational genetic study using trio-based whole-exome sequencing (WES).

Setting: Multicentre study.

Patients: 23 newborns diagnosed with idiopathic NAIS and their biological parents.

Interventions: WES-trio with a customised workflow for filtering and interpreting variants in de novo autosomal dominant and recessive inheritance models.

Main outcome measures: Identification of pathogenic (P) or likely pathogenic (LP) variants potentially associated with NAIS.

Results: We identified 28 unique rare de novo variants in 28 genes across 23 newborns with NAIS. Under the autosomal recessive model, no candidate genes were identified. No common P/LP variant across the 23 newborns was detected. In-silico predictors and comprehensive knowledge-driven analysis highlighted PIK3CD (p.Gln431Arg) as a candidate gene in one patient with perforant stroke. However, no more cases were identified with PIK3CD variants, and functional studies are warranted to assess its pathogenicity impact.

Conclusions: Trio-based WES did not identify a monogenic cause for idiopathic NAIS. Coding variants therefore appear unlikely to explain the underlying genetic base of the disease. Furthermore, PIK3CD (p.Gln431Arg) may contribute to perforant stroke, although it requires further association evidence. As the potential role of non-coding or structural variants in NAIS remains possible, genome-wide long-read sequencing approaches may provide further insights into the genetic architecture of this condition.

Objective: To describe early management of infants born to a parent with gene-positive long QT syndrome (LQTS) referred for specialist review. Review the diagnostic utility of the early neonatal and first clinic ECG.

Design: Retrospective cohort study, including a review of the first neonatal and first clinic ECG.

Setting: Quaternary paediatric-only referral hospital with specialised unit for the management of paediatric inherited cardiovascular diseases.

Patients: Infants born 2015-2022 referred in the setting of parental LQTS who subsequently underwent predictive genetic testing for a parental LQTS-causative genetic variant.

Main outcome measures: Age (at first early neonatal ECG, referral, first clinic attendance), genetic testing data, clinical course, exposure to QT-prolonging medications, neonatal hypoxia-ischaemia and cardiac events (cardiac arrest or death) in the infant's first year.The first neonatal and first clinic ECGs were evaluated for QTc and T-wave morphology, by two observers.

Results: Twenty-six infants met inclusion criteria. Eighteen (69%) were referred in the first month of life. Twelve (46%) inherited the familial LQTS variant. Fourteen (54%) commenced beta-blocker therapy to treat suspected or genetically confirmed LQTS, two subsequently ceased treatment due to a negative genetic result. There were no cardiac events. For the ECG analysis, 40 ECGs from 26 infants were reviewed (early neonatal n=14 (54%)). The first clinic ECG allowed more accurate determination of genetic status with better interobserver variability. Inclusion of T-wave morphology assessment improved its sensitivity.

Conclusions: Streamlined pathways to manage families with LQTS across institutions need to be firmly established to permit a timely diagnosis. Incorporation of formalised T-wave morphology assessment adds value.

Objective: To establish normative ranges for fetal brain volume (FBV) and investigate its relationship with gestational age, using MRI to improve the understanding of fetal brain development.

Design: A prospective, cross-sectional study.

Setting: A single-centre study conducted at a tertiary care hospital equipped with the world's only fetal-dedicated MRI system, located at Necker Hospital, Paris.

Patients: A total of 260 healthy singleton pregnancies between 16 and 36 weeks' gestation were included. Inclusion criteria required confirmed gestational age by first-trimester ultrasound, absence of fetal or maternal anomalies and no high-risk conditions impacting fetal growth.

Interventions: T2-weighted fetal MRI scans were acquired using standardised protocols. Brain and cerebellar volumes were manually segmented using dedicated three-dimensional post-processing software, with volume calculations. Manual segmentations were performed by experienced raters. Intra-rater and inter-rater reproducibility were assessed on randomly selected subsets of 50 cases each, demonstrating excellent agreement (intraclass correlation coefficient>0.96 for both comparisons).

Main outcome measures: The primary outcome was the normative range of FBV by gestational age. Secondary outcomes included identifying variations in brain growth rates during gestation.

Results: FBV increased significantly with gestational age, from a median of 20.1 cm³ at 16 weeks to 307.3 cm³ at 36 weeks. Growth rates showed the highest acceleration between 20 and 28 weeks' gestation, followed by a plateau. Linear regression demonstrated a strong correlation between FBV and gestational age (R²=0.95; p<0.001).

Conclusions: This study provides normative data on FBV, demonstrating consistent growth patterns during mid-to-late gestation. These findings highlight the potential for MRI to serve as a reference tool for monitoring fetal brain development and detecting anomalies in early pregnancy.