Objective: The purpose of this study was to determine the relative importance of the 4-chamber view (4CV) compared with the outflow tract views (OFTVs) in prenatal screening for major congenital heart disease (CHD).
Methods: We prospectively evaluated 200 consecutive infants undergoing cardiac surgery at our institution for major CHD. By reviewing the infants' medical records and conducting bedside interviews with their parents or guardians, we evaluated detection rates both prenatally and postnatally (before and after discharge to home), and we noted any prenatally identifiable risk factors for CHD. For each infant, we determined whether the 4CV or OFTVs would be expected to have been normal or abnormal on routine midgestation screening fetal sonography.
Results: A prenatal diagnosis of CHD was made in 65 infants (33%): 30 of 124 low-risk pregnancies (24%) and 35 of 76 high-risk pregnancies (46%). An abnormal screening midgestation 4CV would have been expected in up to 63% of the infants, whereas abnormal midgestation OFTVs would have been expected in up to 91% of the infants. Thus, the potential sensitivity for detecting major CHD was higher with the OFTVs than with the 4CV (91% versus 63%; P < .001). Moreover, the OFTVs were more sensitive than the 4CV for detecting ductal-dependent forms of CHD. Diagnosis after discharge to home occurred in 39 of 135 postnatal diagnoses (29%), including many cases of isolated outflow tract abnormalities requiring early invasive intervention.
Conclusions: Cases of major neonatal CHD with OFTV abnormalities predominate over cases with 4CV abnormalities, particularly among those forms of CHD requiring early invasive intervention.
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http://dx.doi.org/10.7863/jum.2009.28.7.889 | DOI Listing |
Pediatr Surg Int
December 2024
Division of Paediatric & Neonatal Surgery, Department of Surgery, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia.
Background: In middle-income countries, healthcare systems face unique challenges in ensuring timely antenatal detection of congenital abnormalities that require pediatric surgical intervention. Early detection can significantly improve outcomes, yet resource constraints often limit access to diagnostic technologies. This study evaluates the antenatal detection rate of congenital abnormalities referred to pediatric surgical services in three Malaysian tertiary centers and examines its effect on maternal anxiety.
View Article and Find Full Text PDFSci Rep
December 2024
College of Physical Science and Technology, Yangzhou University, Yangzhou, 225009, Jiangsu, China.
Nanomaterial-biomembrane interactions constitute a critical biological process in assessing the toxicity of such materials in theoretical studies. However, many investigations simplify these interactions by using membrane models containing only one or a few lipid types, deviating significantly from the complexity of real membrane compositions. In particular, cholesterol, a ubiquitous lipid essential for regulating membrane fluidity and closely linked to various diseases, is often overlooked.
View Article and Find Full Text PDFBMJ Glob Health
December 2024
Muso, Bamako, Mali; San Francisco, USA.
Introduction: Despite recommendations from the WHO, antenatal care (ANC) coverage remains low in many low-income and middle-income countries (LMICs). Community health workers (CHWs) can play an important role in expanding ANC coverage through pregnancy identification, provision of health education, screening for complications, delivery of therapeutic care and referral to higher levels of care. However, despite the success of CHW programmes in various countries, WHO has called for additional research to develop evidence-based models that optimise CHW service delivery and that can be replicated across geographies.
View Article and Find Full Text PDFGene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
View Article and Find Full Text PDFInt J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
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