Anencephaly: Cause, Diagnosis, Symptoms and Management
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Anencephaly is a rare and fatal congenital disability that affects brain and skull development. A neural tube defect occurs when the neural tube fails to close properly during the early stages of fetal development, leaving only a small part of the brainstem and cerebellum intact. Anencephaly is a devastating condition with no cure and is often fatal within hours or days of birth.
Anencephaly affects approximately 1 in every 10,000 births worldwide and is more common in females than males.
Cause
The exact cause of Anencephaly is unknown, but it is believed to be a combination of genetic and environmental factors. Risk factors include family history, low intake of folic acid during pregnancy, and exposure to certain chemicals and toxins.
Diagnosis
Prenatal diagnosis of Anencephaly through various methods, such as Ultrasound as early as 12 weeks of pregnancy, amniocentesis in which a small amount of amniotic fluid is removed from the sac surrounding the fetus tested for the presence of specific proteins that are associated with Anencephaly, chorionic villus sampling (CVS) where a small placenta sample is removed and tested.
Symptoms
The symptoms of Anencephaly are usually apparent at birth and include the absence of a complete brain and skull or having a small, flat head with a bulging forehead. They may also have a cleft lip and palate, widely spaced, and not fully developed eyes. Infants with Anencephaly usually cannot breathe independently and require immediate medical attention.
Management
There is no cure for Anencephaly, and management of the case focuses on providing supportive care to the infant, which may include measures to maintain the infant’s body temperature, provide oxygen, and manage any seizures or other complications. In most cases, however, infants with Anencephaly do not survive beyond a few hours or days after birth.
Women planning to become pregnant or already pregnant should take a daily folic acid supplement, which has been shown to reduce the risk of neural tube defects. It is also essential to avoid exposure to harmful chemicals and toxins during pregnancy.