What is Anencephaly?

Anencephaly is a rare condition where a baby’s brain and skull do not fully develop during early pregnancy. This occurs when the neural tube, which forms the brain and spine, doesn’t close completely.

This means the baby cannot develop higher brain functions and typically survives only a short time after birth. This is a heartbreaking and overwhelming diagnosis, and your CHRISTUS care team is here to provide compassionate care and support during this time.

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What Causes Anencephaly?

Anencephaly is caused by a neural tube defect when the baby’s skull and brain do not form properly during early pregnancy.

A combination of genetic and environmental factors can cause anencephaly. These factors include insufficient intake of folic acid or other nutrients before and during pregnancy, exposure to some drugs or toxins, and certain infections during pregnancy.

Diagnosis

Anencephaly is typically diagnosed during pregnancy through routine ultrasounds, which can detect abnormalities in the baby’s brain and skull development. Additional tests, like maternal blood work may be recommended to confirm the diagnosis. These early screenings allow your family to receive the information and support you need to navigate this challenging time.

Signs & Symptoms

Common signs and symptoms include:

  • An absence of most or all cranial bones results in a baby with an open, unprotected brain
  • Absence of most or all of the scalp, revealing exposed brain tissue
  • Absence of the cerebrum, which is the largest part of the brain
  • Absence of a functioning brain stem, which controls breathing and heartbeat
  • Abnormal eye development that may include small eyes or no eyes at all
  • Low birth weight
  • Flattened facial features
  • Small head size

Risk Factors

Risk Factors for anencephaly include:

  • Genetics: the risk for anencephaly is higher if there is a family history of neural tube defects or if either parent has a chromosomal abnormality.
  • Using drugs or alcohol during pregnancy can increase the risk of anencephaly.
  • Low Folate Levels: Folate, also known as folic acid, is a vital vitamin found in leafy greens and beans. Taking a daily prenatal vitamin with 400 mcg of folic acid before and during pregnancy can help support your baby’s healthy development.
  • Certain infections such as toxoplasmosis, rubella, herpes, syphilis, and chickenpox can increase the risk for anencephaly.

CHRISTUS Children's - The Fetal Care Center

When an anomaly is detected, the Fetal Care Center at CHRISTUS Children's in San Antonio connects you and your family with pediatric specialists, providing expert care and support no matter where you plan to deliver your baby.

Visit the Fetal Care Center