Anencephaly is a severe birth defect characterized by the absence of a major portion of the brain, skull, and scalp. This rare condition arises during early embryonic development and is a type of neural tube defect, impacting the formation of the central nervous system. Anencephaly profoundly affects a baby’s ability to survive.
Understanding Anencephaly
Anencephaly involves a malformation where the upper part of the neural tube, which normally develops into the brain and skull, fails to close completely. This occurs between the 23rd and 26th day after conception. Infants with anencephaly are born without a forebrain, including the cerebrum responsible for thinking and coordination, and often lack a cerebellum.
The remaining brain tissue, if present, is limited to the brainstem, which supports basic involuntary functions like breathing and heartbeat. This tissue is often exposed, lacking the protective covering of skin or bone. Babies with anencephaly may have a flattened head due to the absence of skull bones, and sometimes exhibit other physical characteristics such as folded ears or a cleft palate.
Life Expectancy and Outcomes
Anencephaly is a universally fatal condition. Most pregnancies affected by anencephaly result in miscarriage or stillbirth. For infants born alive, survival is extremely limited, typically ranging from minutes to a few hours or days after birth.
The absence of brain structures necessary for sustained life, particularly the cerebrum and cerebellum, prevents long-term survival. While some basic reflexes may be present due to the brainstem, these infants lack consciousness, vision, hearing, and the ability to feel pain. Though rare exceptions exist where an infant may survive for weeks, most succumb to cardiorespiratory arrest shortly after birth.
Causes and Prevention
Anencephaly stems from a neural tube defect where the neural tube does not close properly. While the exact cause is often unknown, it is considered multifactorial, involving a combination of genetic and environmental factors. Risk factors include uncontrolled diabetes in the mother and the use of certain antiseizure medications.
A link exists between anencephaly and folic acid deficiency. Folic acid, a B vitamin, is important for new cell creation and tissue growth. Taking 400 micrograms (mcg) of folic acid daily before and during early pregnancy can significantly reduce the risk of neural tube defects, including anencephaly. This preventative measure can potentially cut the chances of such defects in half.
Support and Care for Families
Receiving an anencephaly diagnosis can be an emotionally overwhelming experience for families. Care focuses on providing comfort and dignity for the infant during their short life. This approach, often referred to as palliative or comfort care, prioritizes the baby’s well-being and the family’s emotional needs.
Families facing this diagnosis can benefit from various support systems. Grief counseling services help parents cope with the loss of their child. Support groups and online communities also provide a space for connection and understanding, allowing families to share their experiences. Healthcare providers offer compassionate care, accurate information, and connections to these valuable resources.