The Symptoms, Affects, and Treatments of Congenital Anomalies
A congenital anomaly may be viewed as a physical, metabolic, or anatomic deviation from the normal pattern of development that is apparent at birth or detected during the first year of life. This can be attributed to one or more conditions and/or disorders. Mendelian genetic disorders (e.g., phenylketonuria), chromosomal abnormalities (e.g., Down syndrome), tumors (e.g., Wilms' tumor), infections (e.g., rubella, toxoplasmosis, herpes virus, cytomegalovirus, HIV, and syphilis), exposure to teratogenic agents (e.g., cocaine, tobacco, or alcohol) maternal disease (e.g., maternally transmitted autoantibodies, phenylketonuria) etc. and just pure bad luck or an unfortunate accident (e.g., a twisted umbilical cord) can all contribute to the development of a congenital anomaly. It is important to determine which of these predisposing conditions have led to the anomaly, because knowledge of the etiologic agent or agents influence not only therapy, but also prevention in the case of future pregnancies.
In contrast, galactosemia may also result in mental retardation, but the gastrointestinal distress experienced by the infant typically leads to early diagnosis, and long-term results of treatment have been disappointing—the IQ is low in many patients despite early and seemingly adequate therapy.
Read more about Congenital Fetal Anomalies (Series in Maternal Fetal Medicine) and other congenital anomalies here
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