The Prevalence of Congenital Anomalies in Europe
EUROCAT Central Registry, Faculty of Life and Health Sciences, University of Ulster, Newtownabbey, UK.Advances in Experimental Medicine and Biology (Impact Factor: 1.96). 01/2010; 686:349-64. DOI: 10.1007/978-90-481-9485-8_20
EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48% of all TOPFA. Congenital heart defects (CHD) were the most common non-chromosomal subgroup, at 6.5 per 1,000 births, followed by limb defects (3.8 per 1,000), anomalies of urinary system (3.1 per 1,000) and nervous system defects (2.3 per 1,000). In 2004, perinatal mortality associated with congenital anomaly was 0.93 per 1,000 births, and TOPFA 4.4 per 1,000 births, with considerable country variation. Primary prevention of congenital anomalies in the population based on controlling environmental risk factors is a crucial policy priority, including preconceptional care and whole population approaches.
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- "Nonetheless, comparing PCB levels in both groups, we found higher levels in the congenital malformation group. The incidence of congenital malformation in the present study (7.4%) was higher than those observed in Brazil (2 to 3% ), India (2.4% ), Europe (2.4% ) and United States (2.9%  "
ABSTRACT: Background: Polychlorinated biphenyls (PCBs) are food-chain contaminants that have been shown to contaminate foods worldwide. The newborn are exposed to these organochlorine compounds across the placenta and through breastfeeding. They are proven to be carcinogenic and may contribute to congenital malformation etiology. Methods: This study examined levels of five PCB congeners (28, 52, 138, 153 and 180) in umbilical cord serum samples from 148 newborns from Rio Grande do Sul state, Brazil. Serum concentrations of PCBs were analyzed by gas chromatography with electron capture detection and mass spectrometry. Results: Levels of ∑PCBs ranged from 0.35 to 55.17ng/ml in umbilical cord serum positive samples, and PCB 138 was the most prevalent congener. Only 7.4% of samples presented no PCB congener. Conclusions: Some PCB congener cord serum levels were related to the locale of the mothers' residence, smoking and drinking habits, fruit consumption, and congenital malformation.Clinica chimica acta; international journal of clinical chemistry 10/2015; 451(Pt B). DOI:10.1016/j.cca.2015.10.019 · 2.82 Impact Factor
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- "The causes of congenital anomalies include a variety of genetic and environmental factors, with the majority probably involving multifactorial aetiology. In Europe the recorded prevalence of major congenital anomalies is 23.9 per 1000 pregnancies, of which 80% were live births and 20% resulted in termination, fetal death or stillbirth (Dolk et al., 2010). "
ABSTRACT: Congenital anomalies are a significant burden on human health. Understanding the developmental origins of such anomalies is key to developing potential therapies. The Human Developmental Biology Resource (HDBR), based in London and Newcastle, UK, was established to provide embryonic and fetal material for a variety of human studies ranging from single gene expression analysis to large-scale genomic/transcriptomic studies. Increasingly, HDBR material is enabling the derivation of stem cell lines and contributing towards developments in tissue engineering. Use of the HDBR and other fetal tissue resources discussed here will contribute to the long-term aims of understanding the causation and pathogenesis of congenital anomalies, and developing new methods for their treatment and prevention.Development 09/2015; 142(18). DOI:10.1242/dev.122820 · 6.46 Impact Factor
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- "Tetralogy of Fallot (TOF) is the most common cyanotic CHD with an incidence of approximately 2.5–3.5/10,000 live births representing 5–7% of all CHD [Perry et al., 1993; Dolk et al., 2010; van der Linde et al., 2011]. Approximately 15% of TOF patients have a chromosome 22q11.2 "
ABSTRACT: Tetralogy of Fallot (TOF) (OMIM #187500) is the most frequent conotruncal congenital heart defect (CHD) with a range of intra- and extracardiac phenotypes. TBX5 is a transcription factor with well-defined roles in heart and forelimb development, and mutations in TBX5 are associated with Holt–Oram syndrome (HOS) (OMIM#142900). Here we report on the screening of 94 TOF patients for mutations in TBX5, NKX2.5 and GATA4 genes. We identified two heterozygous mutations in TBX5. One mutation was detected in a Moroccan patient with TOF, a large ostium secundum atrial septal defect and complete atrioventricular block, and features of HOS including bilateral triphalangeal thumbs and fifth finger clinodactyly. This patient carried a previously described de novo, stop codon mutation (p.R279X) located in exon 8 causing a premature truncated protein. In a second patient from Italy with TOF, ostium secundum atrial septal defect and progressive arrhythmic changes on ECG, we identified a maternally inherited novel mutation in exon 9, which caused a substitution of a serine with a leucine at amino acid position 372 (p.S372L, c.1115C>T). The mother's clinical evaluation demonstrated frequent ventricular extrasystoles and an atrial septal aneurysm. Physical examination and radiographs of the hands showed no apparent skeletal defects in either child or mother. Molecular evaluation of the p.S372L mutation demonstrated a gain-of-function phenotype. We also review the literature on the co-occurrence of TOF and HOS, highlighting its relevance. This is the first systematic screening for TBX5 mutations in TOF patients which detected mutations in two of 94 (2.1%) patients. © 2014 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 12/2014; 164(12). DOI:10.1002/ajmg.a.36783 · 2.16 Impact Factor
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