Congenital Birth Defects Essay - 2343 Words

1.1 Congenital Birth Defects Birth defects, congenital abnormalities are terms used to describe developmental defects that are present at birth. There are a lot of genetic and environmental interactions in the complex transition from a fertilised ovum to a fully formed human being. The stage of development that the interactions are affected influences the type of birth defects. Birth defect causes can be divided into two types, genetic and environmental causes. There are also birth defects which are caused due to multifactorial inheritance (George, 2007). Genetic causes of birth defects It has been estimated that 25% of all birth defects are caused due to genetic factors and out of these 85% causes are known (Brent, 2004).†¦show more content†¦There also occur chromosomal rearrangements which are of different types, such as translocation, inversions and insertions. Translocations represent the exchange of material between two non-homologous chromosomes. Chromosomal re-arrangements can be described as balanced or unbalanced. In balanced re-arrangements chromosome materials which have been lost or gained does not appear in the analysis under light microscope whereas in unbalanced re-arrangements chromosomes are either lost or gained which results in chromosomal imbalance. This type of balanced or unbalanced re-arrangements is associated with phenotypic abnormality like birth defects (Brent, 2004). Single gene mutations They account for 6% of birth defects and they represent malformations and affect multiple systems (Young, 2005). It is important to study the inheritance pattern of these birth defects to give the families accurate genetic advice. Autosomal dominant disorder is caused due to mutations in one allele of an autosomal gene whereas in the autosomal recessive disorder mutation happens in both the allele of an autosomal gene. X-linked recessive disorder is caused due to the mutation in the genes on the X chromosome. Males are more frequently affected as they only have one normal copy of the X-linked gene which becomes mutated unlike in females. X-linked dominant disorder is caused due to mutations in the X-chromosomeShow MoreRelatedCongenital Birth Defect: Cleft Palate Essay examples1075 Words   |  5 PagesCleft palate is a congenital birth defect. Treatment of cleft palate requires the interdisciplinary efforts of a Cleft Palate/Craniofacial team, which includes speech-language pathol ogists and dentists. Approximately fifty percent of individuals who suffer from cleft palate have been shown to have disorders in speech and/or language, with the potential to benefit from treatment (LeDuc, 2008). 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Some of their physical features include, â€Å"being short in stature; flat, broad face with small ears and nose; upward slanting eyes; small mouth with short roof; protruding tongue, which can effect speech; hypotonia; heart d efects; and more.† (Heward 2013, p.137) These physical differencesRead MoreCongenital Condition Of Congenital Heart Defects1423 Words   |  6 PagesCongenital heart defects are problems intrinsic to the heart that present at birth. They develop during fetal growth in utero mainly due to genetic malformations, environmental factors, and multifactorial reasons. The environment within which the fetus develops (the uterus) is a very crucial contribution to normal fetal growth and development. It is common to find disruptions within this microenvironment; the consequent effect being the disruption of normal growth and organ developments. The timingRead MoreCongenital Diseases : Congenital Disease1210 Words   |  5 PagesCongenital disease Congenital disease (birth defect) are defects of any kind that are present at birth. However, not all are caused by a mutation in the DNA. Another way to say congenital disorder are birth defects. Congenital disease is where it â€Å"occurs at birth or even before birth†¦the incidence is 2~5% in newborn and the percentage of congenital disease related to genetic or chromosome defects was 60~70%.; the other 30% of etiology was unknown†¦ congenital disease can be categorized into chromosomeRead MoreCongenital Condition Of Congenital Heart Defects914 Words   |  4 PagesA congenital heart defect is an issue with the actual anatomy of the heart. This issue is normally presented at the time of birth. Congenital heart defects are some of the most common type of birth defect. Eight out of one thousand newborns are diagnosed with a congenital heart defect. Congenital defects can often affect any anatomical part of the heart. It can affect the valves, walls, arteries and veins ne ar the heart. Congenital defects can affect the flow of blood through the heart, they can