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Inbreeding coefficients of various populations in Europe and Asia. Offspring of biologically related persons are subject to the possible effects of inbreeding, such as congenital birth defects. The chances of such disorders are increased when the biological parents are more closely related.
The birth defects crisis due to the medication thalidomide in the 1960s, where thousands of children were born with defects ranging from brain damage to truncated and missing arms and legs is an example of how a seemingly miracle medication supposed to prevent morning sickness instead had disastrous consequences. [3]
The diagnosis of harlequin-type ichthyosis relies on both physical examination and laboratory tests. Physical assessment at birth is vital for the initial diagnosis of harlequin ichthyosis. Physical examination reveals characteristic symptoms of the condition, especially the abnormalities in the skin surface of newborns.
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.
In the orthodox community, an organization called Dor Yeshorim carries out anonymous genetic screening of couples before marriage to reduce the risk of children with genetic diseases being born. [54] The program educates young people on medical genetics and screens school-aged children for any disease genes.
In Finland about one in five persons carries a gene defect associated with at least one Finnish heritage disease, and about one in 500 children born is affected. [4] Most of the gene defects are autosomal recessives , so that if both the mother and father carry the same defect, the chance that their child will have the associated disease is 1 in 4.
Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease. Most cancers, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases.
Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. [1] The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. [2]