Anencephaly | Diagnosis & Treatment

How is anencephaly diagnosed?

The diagnosis of anencephaly may be made during pregnancy or at birth by physical examination. Your baby's head might appear flattened due to the abnormal brain development and missing bones of the skull.

Diagnostic tests performed during pregnancy to evaluate your baby for anencephaly include:

  • Alpha–fetoprotein: A protein produced by the fetus that is excreted into the amniotic fluid.
  • AmniocentesisA test performed to determine chromosomal and genetic disorders and certain birth defects
  • Ultrasound: A diagnostic imaging technique that uses high-frequency sound waves and a computer to create images of blood vessels, tissues and organs
  • Blood tests

How is anencephaly treated?

Sadly, there is no medical treatment for anencephaly. Due to the lack of development of babies' brains, about 75 percent of infants are stillborn and the remaining 25 percent of babies die within a few hours, days or weeks after delivery. Care focuses on providing emotional support to your family. Our social workers will offer you a network of support groups with families going through similar issues.

Also, we may recommend genetic counseling for parents to discuss the risk of recurrence in a future pregnancy as well as vitamin therapy (a prescription for folic acid) that can decrease the recurrence for ONTDs. Extra folic acid, a B vitamin, if taken one to two months prior to conception and throughout the first trimester of pregnancy, has been found to decrease the reoccurrence of ONTDs, for couples who have had a previous child with an ONTD.