The load of genetic and partially genetic disorders in man I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life

Czeizel, Andr̀ew E.; Sankaranarayanan, K.

doi:10.1016/0027-5107(84)90049-6

Cited by 91 publications

(43 citation statements)

References 20 publications

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“…Of the nearly 5000 human gene loci exhibiting characteristics of Mendelian inheritance (1) ( Table 1), many are associated with some degree ofhealth disorder. Although the frequency of any single genetic disease is low, the total incidence of genetic disorders makes a significant impact on human health (2)(3)(4)(5) (Table 2). Further, decreased infant mortality due to reductions in the toll of nutritional and infectious diseases has led to an increase in the contribution of genetic disorders to the overall human disease burden (9).…”

Section: The Human Health Issuementioning

confidence: 99%

Fertility, reproduction, and genetic disease: studies on the mutagenic effects of environmental agents on mammalian germ cells.

Shelby

Bishop

Mason

et al. 1993

Environ Health Perspect

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Because geneticaly based diseases have a major inpact on human health, the National Institute of Environmental Health Sciences (NIEHS) has conducted a research and testing program for more than a decade to address chemical induction of heritable genetic damage in the germ cells of mammals. Although most genetic disease results from preexisting mutations, a portion is due to the occurrence ofnew mutations. The supposition that exposure to mutagenic c s contributes to the occurrence of new mutations in the human population is strongly supported by the results from animal models. Such studies clearly demonstrate the potential ofemnironmental chemicals to induce mutations in both somatic and reproductive cells of mammals. This NIEHS program has become a leader in the identification ofgenetic hazards in the environment and in the acquisition of animal model data used by regulatory agencies in assessing genetic risks to human health.

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Section: The Human Health Issuementioning

confidence: 99%

Fertility, reproduction, and genetic disease: studies on the mutagenic effects of environmental agents on mammalian germ cells.

Shelby

Bishop

Mason

et al. 1993

Environ Health Perspect

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“…A Hungarian population-based study of 2,259 children based on the pediatric cardiologic examination and/or the evaluation of autopsy report of each individual child, the birth prevalence of CCVAs was 10.2 per 1000 [6]. CCVAs cause about 10 % of infant mortality, but are associated with about 25% of CAs related infant deaths [7,8].…”

Section: Introductionmentioning

confidence: 99%

Ventricular septal defects in function of maternal sociodemographic aspects

Vereczkey¹,

Kósa²,

Csáky-Szunyogh

et al. 2012

Open Medicine

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AbstractThe objective of our project is to reveal the possible etiological factors of different congenital cardiovascular abnormalities. In this study, we evaluated single ventricular septal defect (VSD) after surgical correction or with lethal outcome. The birth outcomes of these cases in the function of maternal socio-demographic features were evaluated. Data are based on 1,659 VSD cases, 2,534 matched controls and 38,151 all controls without any defects, in addition in the mothers of 19,393 malformed controls with other isolated defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. VSD had mild female excess with a higher rate of preterm birth and mainly low birth weight indicating intrauterine growth restriction of affected fetuses, particularly in males and full-term or average weighted cases. The mothers of cases with VSD had lower socioeconomic status and higher rate of smoking and particularly drinking habit. The evaluation of medically recorded pregnancy complications showed an association of gestational diabetes with a higher risk of VSD. In conclusion, the association of small localized size of VDS and obvious fetal growth restriction needs further explanation in these cases, while gestational diabetes, lower socioeconomic status and adverse lifestyle of pregnant women may have a role in the origin of VSD.

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“…The morbidity and disability experienced by surviving children also have a major impact on public health [3,4]. Ap-proximately 25% of the number of pediatric hospital admissions and one-third of the total number of pediatric hospital days are attributed to different types of CM [5,6]. This is associated with enormous costs for medical care and creates heavy psychological and emotional burdens for the affected individuals and/or their families.…”

Section: Introductionmentioning

confidence: 99%

Array-Based Comparative Genomic Hybridization Application for Revealing Genomic Micro Imbalances in Congenital Malformations

Toncheva

2009

Balkan Journal of Medical Genetics

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Birth defects affect 3-5% of live births and are a major cause of fetal, neonatal and infant morbidity and mortality in all industrialized countries. Some 40-60% of congenital physical anomalies in humans have no cause, 20% that seem to be multifactorial, 10-13% environmental and 12-25% genetic.Classical cytogenetic or common comparative genomic hybridization (CGH) methods have limited use in investigation of the whole genome because of their low resolution (5-10 Mb). Fluorescence in situ hybridization (FISH) and quantitative fluorescence polymerase chain reaction (QF-PCR) have higher resolution but do not allow genome-wide screening and require some prior knowledge regarding the suspected chromosomal abnormality and its genomic location.Because of these limitations, the impact of genetic micro imbalances as etiological factors for the development of congenital malformations (CM) is underestimated. Array-based techniques have enabled higher resolution screens for genomic imbalances in CM as they permit identification of micro aberrations with a size between 60 bp and several hundred kilobases. They make possible screening of the whole genome and detection of novel unbalanced micro structural rearrangements in a single reaction and also effective screening of new dose-dependent genes. In addition, the application of the aCGH technology has the potential to improve our understanding of the normal quantitative variants of the human genome.

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The load of genetic and partially genetic disorders in man I. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life

Cited by 91 publications

References 20 publications

Fertility, reproduction, and genetic disease: studies on the mutagenic effects of environmental agents on mammalian germ cells.

Fertility, reproduction, and genetic disease: studies on the mutagenic effects of environmental agents on mammalian germ cells.

Ventricular septal defects in function of maternal sociodemographic aspects

Array-Based Comparative Genomic Hybridization Application for Revealing Genomic Micro Imbalances in Congenital Malformations

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