Introduction: Congenital heart defect (CHD) is a significant cause of neonatal and infant mortality. We aimed to evaluate the incidence and pregnancy outcome of foetuses diagnosed with chromosomally normal CHD in KK Women's and Children's Hospital (KKH), Singapore, in 2008-2009.
Methods: We reviewed the medical records of pregnant women who underwent first trimester screening and were diagnosed with foetal CHD at KKH. Additional information was obtained from the Birth Defect Registry for the period 2008-2009. Foetuses with abnormal karyotype or minor lesions not expected to be detected by ultrasonography were excluded.
Results: 38 out of 9,834 euploid foetuses were diagnosed with CHD. Major defects were found in 26 (68%) foetuses, while 12 (32%) had minor CHDs. Tetralogy of Fallot, atrioventricular septal defect, hypoplastic left heart syndrome, transposition of the great arteries and ventricular septal defect constituted the five most common major CHDs observed. In 14 (54%) foetuses with prenatally diagnosed major CHD, the outcome was termination of pregnancy, while 12 (46%) pregnancies continued to birth. Among the live-born babies with major CHD, eight (67%) underwent surgery.
Conclusion: The incidence of non-chromosomal major CHD in Singapore was about 2.6 per 1,000 foetuses. A detection rate of 88.5% was achieved for major CHD during the study period. Advances in CHD management have thrown up new challenges for clinicians in the area of diagnosis, treatment and ethics. Therefore, it may be beneficial to constitute a regulatory entity as a fundamental guide to improve the future management of foetuses diagnosed with CHD.
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Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.
View Article and Find Full Text PDFAntioxidants (Basel)
January 2025
Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Congenital heart disease (CHD) represents the major cause of infant mortality related to congenital anomalies globally. The etiology of CHD is mostly multifactorial, with environmental determinants, including maternal exposure to ambient air pollutants, assumed to contribute to CHD development. While particulate matter (PM) is responsible for millions of premature deaths every year, overall ambient air pollutants (PM, nitrogen and sulfur dioxide, ozone, and carbon monoxide) are known to increase the risk of adverse pregnancy outcomes.
View Article and Find Full Text PDFFASEB J
January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Congenital heart disease (CHD) represents a major birth defect associated with substantial morbidity and mortality. Although environmental factors are acknowledged as potential contributors to CHD, the underlying mechanisms remain poorly understood. Bisphenol A (BPA), a common endocrine disruptor, has attracted significant attention due to its widespread use and associated health risks.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
January 2025
Department of Cardiology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Key Laboratory of Children's Important Organ Development and Diseases of Chongqing Municipal Health Commission, National Clinical Key Cardiovascular Specialty, Chongqing400014, China.
To investigate the disease burden, clinical characteristics and independent risk factors affecting in-hospital outcomes of children with congenital heart disease (CHD) combined with heart failure (HF) in China. (1) Descriptive study: based on the global burden of disease study 2021, available data on children under 15 years of age with CHD and HF in China from 1990 to 2021 were collected. The prevalence and trends in different age subgroups (<1 year, 1-<2 years, 2-<5 years, 5-<10 years, 10-<15 years) were analyzed, and the annual percentage change (EAPC) was estimated using linear regression.
View Article and Find Full Text PDFBMJ Paediatr Open
January 2025
Department of Pediatric Cardiology, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India
Background: Neurodevelopmental disability is a common long-term concern following surgery for congenital heart disease (CHD). Little information is available from low-resource environments where the majority of children with CHD are born. Several challenges in the CHD care continuum exist in such environments.
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