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Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.
Front Genet
December 2024
Department of Obstetrics, Zhangzhou Municipal Hospital Affiliated to Fujian Medical University, Zhangzhou, China.
Introduction: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by intrauterine and postnatal growth retardation. The pathogenic alterations and phenotypes are heterogeneous.
Methods: Here, we present a rare pedigree of duplications with different methylation patterns in 11p15.
Effect of short message service reminders in improving optimal antenatal care, skilled birth attendance and postnatal care in low-and middle-income countries: a systematic review and meta-analysis.
BMC Med Inform Decis Mak
December 2024
Department of Health Informatics, Institute of Public Health, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Background: Digital health has emerged as a promising solution for enhancing health system in the recent years, showing significant potential in improving service outcomes, particularly in low and middle-income countries where accessing essential health service is challenging. This review aimed to determine the effectiveness of short message services on focused antenatal care, skilled birth attendance, and postnatal care improvement in low and middle-income countries.
Method: Electronic databases such as PubMed, EMBASE, Scopus, Cochrane, and Google and Google Scholar were searched.
Assessment of Brain Development in Children With Congenital Diaphragmatic Hernia - an Automated Brain Segmentation Approach.
In Vivo
December 2024
Department of Neuroradiology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Background/aim: Congenital diaphragmatic hernia (CDH) is a critical condition affecting newborns, which often results in long-term morbidities, including neurodevelopmental delays, which affect cognitive, motor, and behavioral functions. These delays are believed to stem from prenatal and postnatal factors, such as impaired lung development and chronic hypoxia, which disrupt normal brain growth. Understanding the underlying mechanisms of these neurodevelopmental impairments is crucial for improving prognosis and patient outcomes, particularly as advances in treatments like ECMO have increased survival rates but also pose additional risks for neurodevelopment.
View Article and Find Full Text PDFApproaching Universal Prenatal Detection of Significant Cardiovascular Malformations in Nevada.
Prenat Diagn
December 2024
Children's Heart Center Nevada, Las Vegas, Nevada, USA.
Objective: To report our recent experience with prenatal detection of significant cardiovascular malformations (CVMs) in Nevada's state-wide maternal population receiving prenatal care.
Methods: We queried our databases for those with significant CVMs diagnosed pre- or postnatally between May 1, 2021, and April 30, 2024. We defined CVMs as those that required, would have required, or will likely require a therapeutic procedure in the first 12 months.
Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.
Pediatr Cardiol
December 2024
Division of Cardiology, Department of Pediatrics, Stanford University School of Medicine, Lucile Packard Children's Hospital, Palo Alto, CA, USA.
Absence of the ductus arteriosus (DA) is common in tetralogy of Fallot (TOF), occurring in up to 30% of cases. Yet, the clinical course and fetal echocardiographic features are not well described, limiting prenatal counseling. This study examines the fetal echocardiographic characteristics and perinatal outcomes in children with TOF absent DA (TOF/ADA), comparing them to those with a DA (TOF/DA).
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