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Association of Health Care Professionals (AHCP) Congenital Malformations and Anomalies Research Group Report Book 2009.
Objective
To examine the issues congenital malformations and anomalies, including their types, causes, diagnosis, treatment and other healthcare matters.
Methods
Clinical systematic review and experts opinions evaluations.
Results
Congenital malformations, congenital anomalies or birth defects are conditions present at birth irrespective of their causes. Malformations are abnormalities of the human form that arise during embryogenesis (the first eight weeks of development). This large group of disorders affects almost 5% of infants and includes several major groups of conditions. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visible at birth or diagnosed by screening tests. A number of defects can be detected before birth by different prenatal tests. Treatment varies depending on the defect in question. This may include therapy, medication, surgery, or assistive technology. Birth defects affected about 88 million people as of 2009.
Conclusion
Congenital disorder is an abnormality of structure and, consequently, function of the human body arising during development. These medical conditions range from mild to more severe. Some affect the organs or a single body part, while others can affect development, how the body works, or the senses. Congenital anomalies affect about 3% of pregnancies. It is possible to reduce the chance of some of these irregularities, but not all of them. Treatment of congenital malformations and anomalies may include medical and surgical treatment, including conservative management.
Keywords: congenital malformations, anomalies, birth defects, abnormality, disability, genetics, diagnosis, treatment, prevention.
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