Fetal and neonatal hemolytic anemia can be caused by (γδβ)(0)-thalassemia deletions of the β-globin gene cluster. Many of these deletions have not been well characterized, and diagnostic tests are not readily available, thus hampering carrier detection, family counseling, and antenatal diagnosis. We report and define a 198 kb deletion removing the entire β-globin gene cluster, which was found in members of a multigeneration family of Irish/Scottish descent. The proband had life-threatening fetal and neonatal hemolytic anemia which subsided by 1 year of age.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pbc.24094 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Altered Connectome Topology in Newborns at Risk for Cognitive Developmental Delay: A Cross-Etiologic Study.
Hum Brain Mapp
January 2025
Center for MR Research, University Children's Hospital Zurich, Zurich, Switzerland.
The human brain connectome is characterized by the duality of highly modular structure and efficient integration, supporting information processing. Newborns with congenital heart disease (CHD), prematurity, or spina bifida aperta (SBA) constitute a population at risk for altered brain development and developmental delay (DD). We hypothesize that, independent of etiology, alterations of connectomic organization reflect neural circuitry impairments in cognitive DD.
View Article and Find Full Text PDFRetroperitoneal Teratoma in a Newborn: A Case Report and Diagnostic Insights.
Cureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFRelationship Between Maternal Serum Amyloid A Levels and Neonatal Outcomes in Preterm Births.
Cureus
December 2024
Department of Psycho-Neuroscience and Recovery, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, ROU.
This study investigated the relationship between maternal serum amyloid A (SAA) levels, a biomarker of systemic inflammation, and specific neonatal outcomes in preterm birth (PTB). The study included 66 consecutive pregnant women hospitalized for spontaneous preterm delivery (ranging from 28 to 36 gestational weeks), at the Timisoara Municipal Hospital. The study measured mSAA levels to assess their potential as predictors of fetal outcomes (respiratory distress syndrome [RDS]), as well as their association with APGAR score, neonatal leukocyte count, and C-reactive protein (CRP) levels as indicators of neonatal status and response.
View Article and Find Full Text PDFImpact of pandemic service changes on ethnic inequalities in maternal and perinatal outcomes in England: a population-based study.
BMJ Open
January 2025
Centre for Primary Care and Public Health, Queen Mary University of London Wolfson Institute of Preventive Medicine, London, UK.
Objective: In the UK and worldwide, there are substantial ethnic inequalities in maternal and perinatal care and outcomes. We aim to assess the impact of the unprecedented change in care provision during the COVID-19 pandemic on inequalities in adverse maternity outcomes.
Design: Retrospective cohort study using structured electronic health record data.
Balancing precision and affordability in assessing infant development in large-scale mortality trials: secondary analysis of a randomised controlled trial.
Arch Dis Child Fetal Neonatal Ed
January 2025
NHMRC Clinical Trials Centre, The University of Sydney, Camperdown, New South Wales, Australia.
Objective: Large-scale mortality trials require reliable secondary assessments of impairment. We compared the Ages and Stages Questionnaire (ASQ-3), a screening tool self-administered by parents, in classifying impairment using the 'gold standard' Bayley Scales of Infant Development (Bayley-III), a diagnostic tool administered by trained assessors.
Design: Analysis of 405 children around 2 years corrected age from the Australian Placental Transfusion Study, a trial conducted over 8 years.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!