Which are the symptoms of Anencephaly?

Symptoms of Anencephaly

Anencephaly is a rare and severe birth defect that affects the development of the brain and skull during pregnancy. Babies born with anencephaly are born without parts of the brain and skull, leading to significant neurological and physical abnormalities. While the exact cause of anencephaly is unknown, it is believed to be a combination of genetic and environmental factors.

1. Absence of the skull and brain: The most prominent symptom of anencephaly is the absence of a major portion of the skull and brain. The baby's skull may be incompletely formed or completely missing, leaving the brain exposed. This condition is often visible at birth and can be distressing for parents and healthcare providers.

2. Facial abnormalities: Babies with anencephaly may exhibit various facial abnormalities. These can include a small or missing forehead, a flat nose, and an underdeveloped jaw. The eyes may be widely spaced or close together, and the ears may be low-set or malformed. These facial features can vary in severity from case to case.

3. Neurological impairments: Anencephaly affects the development of the brain, leading to severe neurological impairments. Babies with anencephaly typically have minimal to no brain function. They are unable to see, hear, or process sensory information. As a result, they do not respond to stimuli and lack normal reflexes.

4. Incomplete development of the skull: In addition to the absence of the skull, babies with anencephaly may have other skull abnormalities. The bones of the skull may be thin or improperly fused, further contributing to the physical deformities associated with this condition.

5. Poor prognosis: Unfortunately, anencephaly is a life-limiting condition. Babies born with anencephaly have a very low chance of survival beyond a few hours or days. The severe neurological and physical abnormalities make it impossible for them to sustain life outside the womb. This devastating prognosis can be emotionally challenging for families.

6. Other associated complications: Anencephaly can be associated with other birth defects or complications. These may include heart defects, spinal cord abnormalities, and gastrointestinal malformations. The presence of these additional complications can further impact the overall health and prognosis of the affected baby.

It is important to note that anencephaly is typically diagnosed during routine prenatal ultrasound examinations. In some cases, it may be detected during pregnancy through elevated levels of alpha-fetoprotein (AFP) in the mother's blood. However, confirmation of the diagnosis is usually made after birth based on the physical characteristics of the baby.

In conclusion, anencephaly is a severe birth defect characterized by the absence of parts of the brain and skull. The symptoms include the absence of the skull and brain, facial abnormalities, neurological impairments, incomplete development of the skull, poor prognosis, and potential associated complications. Early detection and diagnosis during pregnancy can help parents make informed decisions and receive appropriate support and care.