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This results in conditions such as conjoined twins , and the resulting merged organism may die at birth when it must leave the life-sustaining environment of the womb and must attempt to sustain its biological processes independently. Genetic causes of birth defects 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.

Male germ cells mutate at a much faster rate than female germ cells, and as the father ages, the DNA of the germ cells mutates quickly. Genetic disorders are all congenital present at birth , though they may not be expressed or recognized until later in life. Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene a recessive disorder or of only one of the two copies a dominant disorder. Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome.

Chromosomal disorders involve the loss or duplication of larger portions of a chromosome or an entire chromosome containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ systems. In the meta-analysis, data from individual studies were collected from up until Relatively few studies have researched the effects of paternal radiation exposure on offspring.

Following the Chernobyl disaster, it was assumed in the s that the germ line of irradiated fathers suffered minisatellite mutations in the DNA, which was inherited by descendants.

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Birth defect

In the s, 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. 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. Certain birth complications can occur more often in advanced maternal age greater than 35 years. 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. This is because, as humans age, male germ cells acquire mutations at a much faster rate than female germ cells.

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Advanced paternal age has also been linked to increased risk of achondroplasia and Apert syndrome. Offspring born to fathers under the age of 20 show increased risk of being affected by patent ductus arteriosus, ventricular septal defects, and the tetralogy of Fallot. It is hypothesized that this may be due to environmental exposures or lifestyle choices.

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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 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.

Of these, the majority are chromosomal anomalies. Folate supplements decrease the risk of neurotube defects. Tentative evidence supports the role of L-arginine in decreasing the risk of intrauterine growth restriction. Newborn screening tests were introduced in the early s and initially dealt with just two disorders. Since then tandem mass spectrometry , gas chromatography—mass spectrometry , and DNA analysis has made it possible for a much larger range of disorders to be screened.

Newborn screening mostly measures metabolite and enzyme activity using a dried blood spot sample.


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Screening can also be carried out prenatally and can include obstetric ultrasonography to give scans such as the nuchal scan. Congenital anomalies resulted in about , deaths per year in down from , in Many studies have found that the frequency of occurrence of certain congenital malformations depends on the sex of the child table. Among children with one kidney, there are approximately twice as many males, whereas among children with three kidneys there are approximately 2. The same pattern is observed among infants with excessive number of ribs, vertebrae, teeth and other organs which in a process of evolution have undergone reduction—among them there are more females.

Contrarily, among the infants with their scarcity, there are more males. Anencephaly is shown to occur approximately twice as frequently in females. Seven to ten percent of all children [ clarification needed ] will require extensive medical care to diagnose or treat a birth defect. Rajewski and A.

Sherman have analyzed the frequency of congenital anomalies in relation to the system of the organism. 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. It is difficult to explain the observed differences in the frequency of birth defects between the sexes by the details of the reproductive functions or the influence of environmental and social factors.

Key findings include:. From Wikipedia, the free encyclopedia. This article is about congenital disorders in humans. For animals, see Teratology. Main article: Inborn error of metabolism. Main articles: Fetal alcohol spectrum disorder and Fetal alcohol syndrome. Further information: Developmental toxicity , Drugs in pregnancy , and Environmental toxins and fetal development. Main article: Vertically transmitted infection. Further information: Nutrition in pregnancy and Folate deficiency. Main article: Genetic disorder. See also: List of genetic disorders. Main articles: Advanced maternal age and Paternal age effect.

Hannon Dec 15, Retrieved 17 Jan Retrieved 8 December Centers for Disease Control and Prevention. Retrieved Philadelphia: Saunders. Retrieved 29 October J Pediatr. Alcohol Alcohol. A summary". Alcohol Res Health. Reproductive Toxicology.

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Addiction Biology. Genetic Alliance. Hum Reprod Update. New York: Wiley-Liss. Human Reproduction. Obstetrics and Gynecology. Asian Journal of Andrology. Occupational and Environmental Medicine. Praha: Karolinum Press. International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition. United States National Library of Medicine. American Journal of Epidemiology. Science of the Total Environment. Bibcode : ScTEn. May 90—2. Retrieved 7 December British Journal of Obstetrics and Gynaecology.

CSA British Medical Bulletin. National Humanities Center. Retrieved 9 December Mayo Clinic. Langman's Medical Embryology 5th ed. Symptoms and Treatment RSS. MedlinePlus Medical Encyclopedia. Texas School for the Blind and Visually Impaired. Changing Preconceptions. London: Health Education Authority. Gregory March Human Reproduction Update. April Current Opinion in Obstetrics and Gynecology. Acta Obstetricia et Gynecologica Scandinavica. February Annual Review of Psychology. World Health Organization. Teratology in the Twentieth Century Plus Ten.

Springer Netherlands. Retrieved 28 October British Journal of Cancer. Radiation Effects Research Foundation. Bibcode : Natur. Bibcode : PLoSO.. July Sante in French. BMC Pregnancy and Childbirth. Ugeskrift for Laeger. Inborn Errors of Metabolism. Advances in Clinical Chemistry.

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North Am. In: Mathematical treatment of medical-biological information. Fetal and maternal serum gonadotropin and sex steroid concentrations". Retrieved October 1, Chromosome abnormalities Q90—Q99 , Turner syndrome 45,X. Categories : Congenital disorders Animal developmental biology.

Hidden categories: Webarchive template wayback links CS1 errors: missing periodical Articles with inconsistent citation formats CS1 French-language sources fr All articles with unsourced statements Articles with unsourced statements from August Wikipedia articles needing clarification from November RTT. Namespaces Article Talk. Views Read Edit View history. In other projects Wikimedia Commons. By using this site, you agree to the Terms of Use and Privacy Policy. Congenital disorder, congenital disease, congenital deformity, congenital anomaly [1]. A boy with Down syndrome , one of the most common birth defects [2].

Medical genetics , pediatrics.