Question: 8. The primary preventable cause of mental retardation in infants is A. fetal alcohol syndrome. B…

Question: 8. The primary preventable cause of mental retardation in infants is A. fetal alcohol syndrome. B…

24th November 2018OffByRiseNews

This article is about congenital disorders in humans. A birth defect, also known question: 8. The primary preventable cause of mental retardation in infants is A. fetal alcohol syndrome. B… a congenital disorder, is a condition present at birth regardless of its cause.

Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Treatment varies depending on the defect in question. This may include therapy, medication, surgery, or assistive technology. Birth defects affected about 96 million people as of 2015. Much of the language used for describing congenital conditions predates genome mapping, and structural conditions are often considered separately from other congenital conditions. It is now known that many metabolic conditions may have subtle structural expression, and structural conditions often have genetic links. Several terms are used to describe congenital abnormalities.

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Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition. A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully.

Birth defect is a widely used term for a congenital malformation, i. A congenital malformation is a congenital physical anomaly that is deleterious, i. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome. Malformations often occur in the first trimester. A dysplasia is a disorder at the organ level that is due to problems with tissue development. Deformations often occur in the second or third trimester, and can be due to oligohydramnios. A disruption involves breakdown of normal tissues.

When multiple effects occur in a specified order, it is known as a sequence. When the order is not known, it is a syndrome. A limb anomaly is called a dysmelia. Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot.

Congenital anomalies of the nervous system include neural tube defects such as spina bifida, encephalocele and anencephaly. Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis. Defects can be bilateral or unilateral, and different defects often coexist in an individual child. A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.

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Other well defined genetic conditions may affect the production of hormones, receptors, structural proteins, and ion channels. The mother’s consumption of alcohol during pregnancy can cause a continuum of various permanent birth defects : cranofacial abnormalities, brain damage, intellectual disability, heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities. The prevalence of children affected is estimated at least 1 percent in U. Very few studies have investigated the links between paternal alcohol use and offspring health. However, recent animal research has shown a correlation between paternal alcohol exposure and decreased offspring birth weight. Behavioral and cognitive disorders, including difficulties with learning and memory, hyperactivity, and lowered stress tolerance have been linked to paternal alcohol ingestion. Substances whose toxicity can cause congenital disorders are called teratogens, and include certain pharmaceutical and recreational drugs in pregnancy as well as many environmental toxins in pregnancy.

These exposures include, but are not limited to, medication or drug exposures, maternal infections and diseases, and environmental and occupational exposures. Probably, the most well-known teratogenic drug is thalidomide. It was developed near the end of the 1950s by Chemie Grűnenthal as a sleep inducing aid and antiemetic. Vitamin A, is the sole vitamin which is embryotoxic even in a therapeutic dose, for example in multivitamins, because its metabolite retinoic acid, plays an important role as a signal molecule in the development of several tisues and organs. Tetracycline, an antibiotic, should never be prescribed to women of reproductive age or to children, because of its negative impact on bone mineralization and teeth mineralization.

Several anticonvulsants are known to be highly teratogenic. Hormonal contraception is considered as harmless for the embryo. All cytostatics are strong teratogens, abortion is usually recommended when pregnancy is discovered during or before chemotherapy. Drinking water is often a medium through which harmful toxins travel. Studies have shown that heavy metals, elements, nitrates, nitrites, fluoride can be carried through water and cause congenital disorders. Nitrate, which is found mostly in drinking water from ground sources, is a powerful teratogen. A case-control study in rural Australia that was conducted following frequent reports of prenatal mortality and congenital malformations found that those who drank the nitrate-infected groundwater, as opposed to rain water, ran the risk of giving birth to children with central nervous system disorders, muscoskeletal defects, and cardiac defects.

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Chlorinated and aromatic solvents such as benzene and trichloroethylene sometimes enter the water supply due to oversights in waste disposal. A case-control study on the area found that by 1986, leukemia was occurring in the children of Woburn, Massachusetts at a rate that was four times the expected rate of incidence. Fluoride, when transmitted through water at high levels, can also act as a teratogen. Two reports on fluoride exposure from China, which were controlled to account for the education level of parents, found that children born to parents who were exposed to 4.

12 PPM fluoride grew to have IQs that were, on average, seven points lower than their counterparts whose parents consumed water that contained 0. The fetus is even more susceptible to damage from carbon monoxide intake, which can be harmful when inhaled during pregnancy, usually through first or second-hand tobacco smoke. Industrial pollution can also lead to congenital defects. Over a period of 37 years, the Chisso Corporation, a petrochemical and plastics company, contaminated the waters of Minamata Bay with an estimated 27 tons of methylmercury, contaminating the local water supply.

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Landfill sites have been shown to have adverse effects on fetal development. Extensive research has been shown that landfills have several negative effects on babies born to mothers living near landfill sites: low birth weight, birth defects, spontaneous abortion, and fetal and infant mortality. Another issue regarding environmental justice is lead poisoning. If the fetus is exposed to lead during the pregnancy, this can result in learning difficulties and slowed growth. Paternal smoking prior to conception has been linked with the increased risk of congenital abnormalities in offspring.

Smoking causes DNA mutations in the germline of the father, which can be inherited by the offspring. Cigarette smoke acts as a chemical mutagen on germ cell DNA. The germ cells suffer oxidative damage, and the effects can be seen in altered mRNA production, infertility issues, and side effects in the embryonic and fetal stages of development. However, further research is needed to confirm these findings. Congenital disorders were initially believed to be the result of only hereditary factors. However, in the early 1940s, Australian pediatric ophthalmologist Norman Gregg began recognizing a pattern in which the infants arriving at his surgery were developing congenital cataracts at a higher rate than those who developed it from hereditary factors. Rubella is known to cause abnormalities of the eye, internal ear, heart, and sometimes the teeth.

Other infectious agents include cytomegalovirus, the herpes simplex virus, hyperthermia, toxoplasmosis, and syphilis. For example, a lack of folic acid, a vitamin B, in the diet of a mother can cause cellular neural tube deformities that result in spina bifida. Studies with mice have found that food deprivation of the male mouse prior to conception leads to the offspring displaying significantly lower blood glucose levels. External physical shocks or constrainment due to growth in a restricted space, may result in unintended deformation or separation of cellular structures resulting in an abnormal final shape or damaged structures unable to function as expected. An example is Potter syndrome due to oligohydramnios. For multicellular organisms that develop in a womb, the physical interference or presence of other similarly developing organisms such as twins can result in the two cellular masses being integrated into a larger whole, with the combined cells attempting to continue to develop in a manner that satisfies the intended growth patterns of both cell masses.

Genetic causes of congenital anomalies include inheritance of abnormal genes from the mother or the father, as well as new mutations in one of the germ cells that gave rise to the fetus. Genetic disorders or diseases are all congenital, though they may not be expressed or recognized until later in life. Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Socioeconomic inequalities are commonly measured by the Cartairs-Morris score, Index of Multiple Deprivation, Townsend deprivation index, and the Jarman score. Relatively few studies have researched the effects of paternal radiation exposure on offspring. Following the Chernobyl disaster, it was assumed in the 1990s that the germ line of irradiated fathers suffered minisatellite mutations in the DNA, which was inherited by descendants. In the 1980s, a relatively high prevalence of pediatric leukemia cases in children living near a nuclear processing plant in West Cumbria, UK, led researchers to investigate whether the cancer was a result of paternal radiation exposure.

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A significant association between paternal irradiation and offspring cancer was found, but further research areas close to other nuclear processing plants did not produce the same results. Complications include fetal growth restriction, preeclampsia, placental abruption, pre-mature births, and stillbirth. These complications not only may put the child at risk, but also the mother. The effects of the fathers age on offspring are not yet well understood and are studied far less extensively than the effects of the mother’s age.

Fathers contribute proportionally more DNA mutations to their offspring via their germ cells than the mother, with the paternal age governing how many mutations are passed on. Research has found that there is a correlation between advanced paternal age and risk of birth defects such as limb anomalies, syndromes involving multiple systems, and Down’s syndrome. There is concrete evidence that advanced paternal age is associated with the increased likelihood that a mother will have a miscarriage or that fetal death will occur. Newborn screening tests were introduced in the early 1960s and initially dealt with just two disorders. Screening can also be carried out prenatally and can include obstetric ultrasonography to give scans such as the nuchal scan. 3D ultrasound scans can give detailed information of structural anomalies. Disability-adjusted life year for congenital anomalies per 100,000 inhabitants in 2004.

Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990. Prevalence of men was recorded for the anomalies of phylogenetically younger organs and systems. In respect of an etiology, sexual distinctions can be divided on appearing before and after differentiation of male’s gonads in during embryonic development, which begins from eighteenth week. The testosterone level in male embryos thus raises considerably. The subsequent hormonal and physiological distinctions of male and female embryos can explain some sexual differences in frequency of congenital defects. The CDC and National Birth Defect Project studied the incidence of birth defects in the US.

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Down syndrome was the most common condition with an estimated prevalence of 14. 47 per 10,000 live births, implying about 6,000 diagnoses each year. About 7,000 babies are born with a cleft palate, cleft lip or both. What are the types of birth defects? Centers for Disease Control and Prevention. What are the treatments for birth defects? GBD 2015 Mortality and Causes of Death, Collaborators.

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Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015″. How do health care providers diagnose birth defects? GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015″. 2013: a systematic analysis for the Global Burden of Disease Study 2013″. American Academy of Otolaryngology-Head and Neck Surgery. Smith’s Recognizable Patterns of Human Deformation, 3rd Edition.

The Study Outcomes

Brain malformations related to prenatal exposure to ethanol”. Fetal alcohol syndrome is now leading cause of mental retardation”. Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies”. Estimating the prevalence of fetal alcohol syndrome. Paternal exposure and counselling: Experience of a Teratology Information Service”. Paternal contribution to fetal alcohol syndrome”. Paternal Cigarette Smoking and the Risk of Childhood Cancer Among Offspring of Nonsmoking Mothers”.

JNCI Journal of the National Cancer Institute. Exposure to prescribed drugs in pregnancy and association with congenital malformations”. Review of recent epidemiological studies on paternal occupations and birth defects”. Teratogenicity of high vitamin A intake”.

Hartmann S, Brørs O, Bock J, et al. Exposure to retinoic acids in non-pregnant women following high vitamin A intake with a liver meal”. International journal for vitamin and nutrition research. Internationale Zeitschrift für Vitamin- und Ernährungsforschung.

Additional policies

Journal international de vitaminologie et de nutrition. United States National Library of Medicine. Maternal Exposure to Nitrate from Drinking Water and Diet and Risk for Neural Tube Defects”. A case-control study of childhood leukemia in Woburn, Massachusetts: the relationship between leukemia incidence and exposure to public drinking water”. In Harm’s Way: Toxic Threats to Child Development”.

British Journal of Obstetrics and Gynaecology. Methylmercury Contamination in Fish and Shellfish”. Texas School for the Blind and Visually Impaired. Preconceptional fasting of fathers alters serum glucose in offspring of mice”. Influence of paternal age, smoking, and alcohol consumption on congenital anomalies”. Inequalities in perinatal and maternal health”.