AETIOLOGY AND CONSEQUENCES OF CONGENITAL MALFORMATIONS


The development of the embryo is dependent on genetic influences. However, environmental conditions can also exert an important effect. It therefore follows that congenital abnormalities may occur either as a result of genetic or Enviromental defect or by combination of both (Foghl  Anderson, 2000). Genetic factors may cause many single anomalies and syndromes and may operate via simple Mendelian or multifactorial
inheritance (Merck, 2003).

 They are of chromosomal origins and in some cases from external agents (Mutagens) influencing the chromosomes. (Saladin, 1996). Environmental factors include toxins radiation, diet, drugs, disease etc. This generally causes various anomalies with extreme consequences. While genetic abnormalities will have well defined impact upon development. Maternally derived effects can be harder to define and variable, depending on different factors e.g. time, exposure and combination of other factors (Hills, 1999).

         Genetic cause’s accounts for 51% of major malformations were 9.5% are due to chromosomal abnormalities, 3.3% are due to single mutant genes, 23.8% due to multifactorial inheritance and 14.3% due to uncertain patterns of inheritance. Teratogens such as drugs and other environmental factors were identified as causing about 32% of all malformations. However, unknown cause accounted for 43% of all malformations (McKeon, 1976).

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