National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001. Birth defects research

University of Alabama at Birmingham, Birmingham, Alabama, United States
Birth Defects Research Part A Clinical and Molecular Teratology (Impact Factor: 2.09). 11/2006; 76(11):747-56. DOI: 10.1002/bdra.20294
Source: PubMed


In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity.
Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects.
National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula.
This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects.

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Available from: Russell S Kirby, Oct 03, 2015
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    • "Down syndrome is the most common genetic cause of mental retardation [1]. Its association with Dandy-Walker malformation is extremely rare, with only 3 cases reported to date [2, 3, 4]. "
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    ABSTRACT: The association of Down syndrome (DS) with Dandy Walker malformation (DWM) is extremely rare, with only 3 cases reported to date. All cases reported have shown a bad life expectancy and a bad developmental outcome. The present case reveals the possibility of a good prognosis. A 19-month-old male patient had successful endoscopic hydrocephalus treatment and a good developmental outcome. He probably had a better outcome because of good DS and DWM prognostic parameters. Our patient suffered from a DWM with vermis identification of 2 fissures and 3 lobes and a DS with a well-preserved tonus, which was not associated with other congenital systemic defects. We may conclude that the prognosis of DS-DWM association may separately depend on the degree of clinical and neurological involvement of each malformation.
    Case Reports in Neurology 05/2014; 6(2):156-60. DOI:10.1159/000363179
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    • "There are generally very similar rates of CVM in all major geographical regions. For some CVM there are measurable differences in rates between population groups [Canfield et al., 2006; Fixler et al., 1990; Grech, 1998, 1999; Ho, 1991; McBride et al., 2005a, 2005b; Muir, 1960; Pradat et al., 2003; Schrire, 1963; Shann, 1969]. The most likely explanation for these differences lies in the distinctive genetic history of different populations. "
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    ABSTRACT: Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects.
    European journal of medical genetics 04/2014; 57(8). DOI:10.1016/j.ejmg.2014.04.010 · 1.47 Impact Factor
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    • "Down syndrome (DS), trisomy 21, is the most common chromosomal defect, with an incidence in the United States of one per seven-hundred and thirty-three live births [1] with the rate of spontaneous abortions among trisomy 21 fetuses being 7-fold that among non-trisomic fetuses. Not only is trisomy 21 the most frequent cause of mental retardation [2,3], due to the extensive number of chromosome 21 genes [4], there is an extremely high incidence of congenital anomalies such as important cardiac and gastrointestinal malformations in trisomy 21 [5]. In the brain, neuritic amyloid-β (Aβ) plaques - a characteristic neuropathological feature of Alzheimer’s disease (AD) - are a virtually certain finding in adults with DS [6-8] and have been noted in some children with DS [9]. "
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    ABSTRACT: Down syndrome (DS) is the result of triplication of chromosome 21 (trisomy 21) and is the prevailing cause of mental retardation. In addition to the mental deficiencies and physical anomalies noted at birth, triplication of chromosome 21 gene products results in the neuropathological and cognitive changes of Alzheimer's disease (AD). Mapping of the gene that encodes the precursor protein (APP) of the beta-amyloid (Abeta) present in the Abeta plaques in both AD and DS to chromosome 21 was strong evidence that this chromosome 21 gene product was a principal neuropathogenic culprit in AD as well as DS. The discovery of neuroinflammatory changes, including dramatic proliferation of activated glia overexpressing a chromosome 2 gene product - the pluripotent immune cytokine interleukin-1 (IL-1) - and a chromosome 21 gene product - S100B - in the brains of fetuses, neonates, and children with DS opened the possibility that early events in Alzheimer pathogenesis were driven by cytokines. The specific chromosome 21 gene products and the complexity of the mechanisms they engender that give rise to the neuroinflammatory responses noted in fetal development of the DS brain and their potential as accelerators of Alzheimer neuropathogenesis in DS are topics of this review, particularly as they relate to development and propagation of neuroinflammation, the consequences of which are recognized clinically and neuropathologically as Alzheimer's disease.
    Journal of Neuroinflammation 07/2013; 10(1):84. DOI:10.1186/1742-2094-10-84 · 5.41 Impact Factor
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