Congenital Anomalies

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.

Gross abnormalities are obvious at birth, whereas many metabolic abnormalities are not immediately apparent and represent a significant, and possibly preventable, hazard to the health and well-being of the patient. In general, neonatal screening is advisable when the incidence of the disease is sufficient to warrant mass screening of the population; when the test is sufficiently sensitive to detect the disease while specific enough to minimize the stress incurred in ruling out the diagnosis; and when the disease is not only treatable, but early diagnosis is critical. Examples include phenylketonuria and congenital hypothyroidism, both of which lead to preventable and relatively silent forms of mental retardation and where delay in diagnosis can lead to irreparable loss of intelligence.


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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    Congenital Anomalies


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